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KRIT1 KRIT1 ankyrin repeat containing [ Homo sapiens (human) ]

Gene ID: 889, updated on 5-Mar-2024

Summary

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Official Symbol
KRIT1provided by HGNC
Official Full Name
KRIT1 ankyrin repeat containingprovided by HGNC
Primary source
HGNC:HGNC:1573
See related
Ensembl:ENSG00000001631 MIM:604214; AllianceGenome:HGNC:1573
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAM; CCM1
Summary
This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Ubiquitous expression in testis (RPKM 10.9), thyroid (RPKM 10.0) and 25 other tissues See more
Orthologs
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Genomic context

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See KRIT1 in Genome Data Viewer
Location:
7q21.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92198969..92246100, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93440257..93487387, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91828283..91875414, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr7:91763126-91763952 and GRCh37_chr7:91763953-91764779 Neighboring gene cytochrome P450 family 51 subfamily A member 1 Neighboring gene MPRA-validated peak6634 silencer Neighboring gene MPRA-validated peak6635 silencer Neighboring gene MPRA-validated peak6636 silencer Neighboring gene CYP51A1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18367 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18368 Neighboring gene microRNA 1285-1 Neighboring gene Sharpr-MPRA regulatory region 5961 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:91888982-91890181 Neighboring gene ankyrin repeat and IBR domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92052283-92052783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18370 Neighboring gene transmembrane BAX inhibitor motif containing 7, pseudogene Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants. Ricci C, et al. J Mol Neurosci, 2021 Sep. PMID 33651268, Free PMC Article
  2. KRIT1 as a possible new player in melanoma aggressiveness. Ercoli J, et al. Arch Biochem Biophys, 2020 Sep 30. PMID 32735866
  3. Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation. Manole AK, et al. Am J Med Genet A, 2020 May. PMID 32100472, Free PMC Article
  4. Postzygotic mosaicism in cerebral cavernous malformation. Rath M, et al. J Med Genet, 2020 Mar. PMID 31446422, Free PMC Article
  5. A novel large deletion in CCM1 gene in a Tunisian family. Tinsa F, et al. Rev Neurol (Paris), 2019 Mar. PMID 30314744

See all (141) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
    Title: A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
  2. Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
    Title: Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
  3. KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.
    Title: KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.
  4. Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1.
    Title: Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1.
  5. Protein kinase Calpha regulates the nucleocytoplasmic shuttling of KRIT1.
    Title: Protein kinase Cα regulates the nucleocytoplasmic shuttling of KRIT1.
  6. Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
    Title: Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
  7. Postzygotic mosaicism in cerebral cavernous malformation.
    Title: Postzygotic mosaicism in cerebral cavernous malformation.
  8. Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
    Title: Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
  9. KRIT1 as a possible new player in melanoma aggressiveness.
    Title: KRIT1 as a possible new player in melanoma aggressiveness.
  10. CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.
    Title: CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.
Submit: New GeneRIF Correction See all GeneRIFs (96)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase regulator activity TAS
Traceable Author Statement
more info
 PubMed 
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell redox homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell redox homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endothelium development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in integrin activation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of endothelial cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of angiogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of establishment of cell polarity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in small GTPase-mediated signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular space HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
krev interaction trapped protein 1
Names
ankyrin repeat-containing protein Krit1
cerebral cavernous malformations 1 protein
krev interaction trapped 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012964.1 RefSeqGene

    Range
    5001..52132
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_650

mRNA and Protein(s)

  1. NM_001013406.2 → NP_001013424.1  krev interaction trapped protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001013424.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate 5' exon, and lacks 2 exons in the 5' UTR and an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 2 lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS34679.1
    UniProtKB/TrEMBL
    A0A8I5KW41
    Related
    ENSP00000378011.2, ENST00000394503.6
    Conserved Domains (5) summary
    smart00295
    Location:373 → 592
    B41; Band 4.1 homologues
    cd13197
    Location:588 → 687
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:306 → 338
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:282 → 363
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  2. NM_001350669.1 → NP_001337598.1  krev interaction trapped protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 5 and 7, encodes isoform 2.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS34679.1
    UniProtKB/TrEMBL
    A0A8I5KW41
    Conserved Domains (5) summary
    smart00295
    Location:373 → 592
    B41; Band 4.1 homologues
    cd13197
    Location:588 → 687
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:306 → 338
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:282 → 363
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  3. NM_001350670.1 → NP_001337599.1  krev interaction trapped protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 5 and 6, encodes isoform 2.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS34679.1
    UniProtKB/TrEMBL
    A0A8I5KW41
    Related
    ENSP00000508543.1, ENST00000689556.1
    Conserved Domains (5) summary
    smart00295
    Location:373 → 592
    B41; Band 4.1 homologues
    cd13197
    Location:588 → 687
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:306 → 338
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:282 → 363
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  4. NM_001350671.1 → NP_001337600.1  krev interaction trapped protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC000120
    Conserved Domains (4) summary
    smart00295
    Location:183 → 402
    B41; Band 4.1 homologues
    cd00204
    Location:53 → 173
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:398 → 497
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:53 → 80
    ANK; ANK repeat [structural motif]

  5. NM_001350672.1 → NP_001337601.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 1-4 and 10-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  6. NM_001350673.1 → NP_001337602.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 1-4, 9, and 11-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000510015.1, ENST00000686094.1
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  7. NM_001350674.1 → NP_001337603.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 1-4, 9, 10, and 12-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  8. NM_001350675.1 → NP_001337604.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 1-4, 9-11, and 13-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000391675.2, ENST00000458177.7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  9. NM_001350676.1 → NP_001337605.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 1-4, 9-12, and 14-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000388076.2, ENST00000444960.6
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  10. NM_001350677.1 → NP_001337606.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 1-4, 9-13, and 15-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  11. NM_001350678.1 → NP_001337607.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 1-4, 9-14, and 16-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  12. NM_001350679.1 → NP_001337608.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variants 1-4, 9-15, and 17-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000509139.1, ENST00000686527.1
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  13. NM_001350680.1 → NP_001337609.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (34), as well as variants 1-4 and 9-33, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  14. NM_001350681.1 → NP_001337610.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variants 1-4, 9-16, and 18-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  15. NM_001350682.1 → NP_001337611.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18), as well as variants 1-4, 9-17, and 19-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  16. NM_001350683.1 → NP_001337612.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19), as well as variants 1-4, 9-18, and 20-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  17. NM_001350684.1 → NP_001337613.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20), as well as variants 1-4, 9-19, and 21-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  18. NM_001350685.1 → NP_001337614.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21), as well as variants 1-4, 9-20, and 22-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000509514.1, ENST00000692157.1
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  19. NM_001350686.1 → NP_001337615.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22), as well as variants 1-4, 9-21, and 23-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000509617.1, ENST00000687135.1
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  20. NM_001350687.1 → NP_001337616.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (23), as well as variants 1-4, 9-22, and 24-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000509209.1, ENST00000688665.1
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  21. NM_001350688.1 → NP_001337617.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (24), as well as variants 1-4, 9-23, and 25-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  22. NM_001350689.1 → NP_001337618.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (25), as well as variants 1-4, 9-24, and 26-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000509832.1, ENST00000690720.1
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  23. NM_001350690.1 → NP_001337619.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (26), as well as variants 1-4, 9-25, and 27-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  24. NM_001350691.1 → NP_001337620.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (27), as well as variants 1-4, 9-26, and 28-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  25. NM_001350692.1 → NP_001337621.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (28), as well as variants 1-4, 9-27, and 29-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  26. NM_001350693.1 → NP_001337622.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (29), as well as variants 1-4, 9-28, and 30-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  27. NM_001350694.1 → NP_001337623.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (30), as well as variants 1-4, 9-29, and 31-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  28. NM_001350695.1 → NP_001337624.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (31), as well as variants 1-4, 9-30, and 32-34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000508564.1, ENST00000692807.1
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  29. NM_001350696.1 → NP_001337625.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (32), as well as variants 1-4, 9-31, 33, and 34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000510733.1, ENST00000690529.1
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  30. NM_001350697.1 → NP_001337626.1  krev interaction trapped protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (33), as well as variants 1-4, 9-32, and 34, encodes isoform 1.
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  31. NM_004912.4 → NP_004903.2  krev interaction trapped protein 1 isoform 1

    See identical proteins and their annotated locations for NP_004903.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the 5' exon but has an alternate segment in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000410909.2, ENST00000412043.6
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  32. NM_194454.3 → NP_919436.1  krev interaction trapped protein 1 isoform 1

    See identical proteins and their annotated locations for NP_919436.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks 2 exons but has an alternate exon in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AC000120
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000378013.2, ENST00000394505.7
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  33. NM_194455.1 → NP_919437.1  krev interaction trapped protein 1 isoform 1

    See identical proteins and their annotated locations for NP_919437.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has 2 alternate exons in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AF388384
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000344668.2, ENST00000340022.6
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  34. NM_194456.1 → NP_919438.1  krev interaction trapped protein 1 isoform 1

    See identical proteins and their annotated locations for NP_919438.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) includes 4 exons in the 5' UTR. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AF296765, AF388384, AJ294850
    Consensus CDS
    CCDS5624.1
    UniProtKB/Swiss-Prot
    A6NNU0, O00522, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
    UniProtKB/TrEMBL
    A0A8I5KUF9, A4D1F7
    Related
    ENSP00000378015.1, ENST00000394507.5
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd00204
    Location:291 → 411
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    92198969..92246100 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    93440257..93487387 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00522.2 GenPept UniProtKB/Swiss-Prot:O00522

Gene LinkOut

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