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Krit1 KRIT1, ankyrin repeat containing [ Mus musculus (house mouse) ]

Gene ID: 79264, updated on 21-Apr-2024

Summary

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Official Symbol
Krit1provided by MGI
Official Full Name
KRIT1, ankyrin repeat containingprovided by MGI
Primary source
MGI:MGI:1930618
See related
Ensembl:ENSMUSG00000000600 AllianceGenome:MGI:1930618
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ccm1; 2010007K12Rik; A630036P20Rik
Summary
Predicted to enable microtubule binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in cell redox homeostasis; negative regulation of angiogenesis; and regulation of establishment of cell polarity. Acts upstream of or within positive regulation of protein binding activity. Located in cytoplasm. Part of protein-containing complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; eye; and reproductive system. Used to study cerebral cavernous malformation. Human ortholog(s) of this gene implicated in cerebral cavernous malformation and cerebral cavernous malformation 1. Orthologous to human KRIT1 (KRIT1 ankyrin repeat containing). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E14 (RPKM 7.1), CNS E11.5 (RPKM 6.7) and 24 other tissues See more
Orthologs
human all
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Genomic context

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Location:
5 A1; 5 2.26 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (3853156..3894515)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (3803156..3844515)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 50624 Neighboring gene STARR-seq mESC enhancer starr_12317 Neighboring gene transmembrane BAX inhibitor motif containing 7 Neighboring gene ankyrin repeat and IBR domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E4742 Neighboring gene STARR-seq mESC enhancer starr_12318 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_12319 Neighboring gene mitochondrial transcription termination factor 1a Neighboring gene Rps4x retrotransposed pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Role of pericytes in the development of cerebral cavernous malformations. Dai Z, et al. iScience, 2022 Dec 22. PMID 36465134, Free PMC Article
  2. β1 integrin monoclonal antibody treatment ameliorates cerebral cavernous malformations. McCurdy S, et al. FASEB J, 2022 Dec. PMID 36349990, Free PMC Article
  3. Heterozygous Loss of KRIT1 in Mice Affects Metabolic Functions of the Liver, Promoting Hepatic Oxidative and Glycative Stress. Mastrocola R, et al. Int J Mol Sci, 2022 Sep 22. PMID 36232456, Free PMC Article
  4. KRIT1-mediated regulation of neutrophil adhesion and motility. Nobiletti N, et al. FEBS J, 2023 Feb. PMID 36107440, Free PMC Article
  5. VEGF signalling enhances lesion burden in KRIT1 deficient mice. DiStefano PV, et al. J Cell Mol Med, 2020 Jan. PMID 31746130, Free PMC Article

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cerebral cavernous malformation proteins, CCM1, CCM2 and CCM3, are decreased in metastatic lesions in a murine breast carcinoma model.
    Title: Cerebral cavernous malformation proteins, CCM1, CCM2 and CCM3, are decreased in metastatic lesions in a murine breast carcinoma model.
  2. KRIT1-mediated regulation of neutrophil adhesion and motility.
    Title: KRIT1-mediated regulation of neutrophil adhesion and motility.
  3. Heterozygous Loss of KRIT1 in Mice Affects Metabolic Functions of the Liver, Promoting Hepatic Oxidative and Glycative Stress.
    Title: Heterozygous Loss of KRIT1 in Mice Affects Metabolic Functions of the Liver, Promoting Hepatic Oxidative and Glycative Stress.
  4. KRIT1 loss-mediated upregulation of NOX1 in stromal cells promotes paracrine pro-angiogenic responses.
    Title: KRIT1 loss-mediated upregulation of NOX1 in stromal cells promotes paracrine pro-angiogenic responses.
  5. VEGF signalling enhances lesion burden in KRIT1 deficient mice.
    Title: VEGF signalling enhances lesion burden in KRIT1 deficient mice.
  6. KRIT1 loss of function mutation causes aortic endothelial dysfunction.
    Title: KRIT1 Deficiency Promotes Aortic Endothelial Dysfunction.
  7. this study shows that KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress
    Title: KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease.
  8. our data indicate that ROS signaling is critical for the loss of barrier function following genetic deletion of KRIT1.
    Title: Up-regulation of NADPH oxidase-mediated redox signaling contributes to the loss of barrier function in KRIT1 deficient endothelium.
  9. Data show that the reduced expression of thrombospondin1 (TSP1) that follows Krit1 inactivation contributes to cavernous malformation (CCM) lesion pathogenesis.
    Title: Thrombospondin1 (TSP1) replacement prevents cerebral cavernous malformations.
  10. Lesions develop in a stereotypic location and pattern, preceded by endothelial hypersprouting as confirmed in a zebrafish model of disease. The vascular defects seen with loss of Ccm1 suggest a defect in endothelial flow response.
    Title: Lack of CCM1 induces hypersprouting and impairs response to flow.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (8)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

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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 MGI

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

General protein information

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Preferred Names
krev interaction trapped protein 1
Names
cerebral cavernous malformations 1 protein homolog
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.

mRNA and Protein(s)

  1. NM_001170552.1 → NP_001164023.1  krev interaction trapped protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001164023.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Isoform 2 is also known as Krit1B.
    Source sequence(s)
    AK041574, AK087107, AY328895, BB853405, BB855141, BY150935
    Consensus CDS
    CCDS51409.1
    UniProtKB/TrEMBL
    Q5U463
    Related
    ENSMUSP00000132375.2, ENSMUST00000171023.8
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:292 → 386
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
    cl17171
    Location:636 → 696
    PH-like; Pleckstrin homology-like domain

  2. NM_030675.3 → NP_109600.2  krev interaction trapped protein 1 isoform 1

    See identical proteins and their annotated locations for NP_109600.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Isoform 1 is also known as Krit1A.
    Source sequence(s)
    AK041574, AK087107, BB619038, BB855141, BC141042
    Consensus CDS
    CCDS39002.1
    UniProtKB/Swiss-Prot
    Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0
    UniProtKB/TrEMBL
    B2RUA8, Q5U463
    Related
    ENSMUSP00000078985.5, ENSMUST00000080085.9
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    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]
    pfam12796
    Location:292 → 386
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

RNA

  1. NR_033173.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK041574, AK087107, BB591998, BC054819

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    3853156..3894515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030254912.1 → XP_030110772.1  krev interaction trapped protein 1 isoform X2

    UniProtKB/TrEMBL
    Q5U463
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:292 → 386
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
    cl17171
    Location:636 → 696
    PH-like; Pleckstrin homology-like domain

  2. XM_006503617.4 → XP_006503680.1  krev interaction trapped protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006503680.1

    UniProtKB/Swiss-Prot
    Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0
    UniProtKB/TrEMBL
    B2RUA8, Q5U463
    Related
    ENSMUSP00000143559.2, ENSMUST00000200386.5
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    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]
    pfam12796
    Location:292 → 386
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  3. XM_006503618.5 → XP_006503681.1  krev interaction trapped protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006503681.1

    UniProtKB/Swiss-Prot
    Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0
    UniProtKB/TrEMBL
    B2RUA8, Q5U463
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    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]
    pfam12796
    Location:292 → 386
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

  4. XM_030254911.2 → XP_030110771.1  krev interaction trapped protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0
    UniProtKB/TrEMBL
    B2RUA8, Q5U463
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    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]
    pfam12796
    Location:292 → 386
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6S5J6.1 GenPept UniProtKB/Swiss-Prot:Q6S5J6

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