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CASK calcium/calmodulin dependent serine protein kinase [ Homo sapiens (human) ]

Gene ID: 8573, updated on 11-Apr-2024

Summary

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Official Symbol
CASKprovided by HGNC
Official Full Name
calcium/calmodulin dependent serine protein kinaseprovided by HGNC
Primary source
HGNC:HGNC:1497
See related
Ensembl:ENSG00000147044 MIM:300172; AllianceGenome:HGNC:1497
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
CMG; FGS4; LIN2; TNRC8; hCASK; CAGH39; CAMGUK; MICPCH; MRXSNA
Summary
This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
Xp11.4
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (41514934..41923554, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (40919852..41328508, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (41374187..41782807, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 15169 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:41244756-41245273 Neighboring gene RNA, 7SL, cytoplasmic 15, pseudogene Neighboring gene DEAD-box helicase 3 X-linked Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29557 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:41334409-41335000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29560 Neighboring gene GEMIN7 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:41376070-41376571 Neighboring gene nyctalopin Neighboring gene RNA, U6 small nuclear 1321, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20777 Neighboring gene NANOG hESC enhancer GRCh37_chrX:41464273-41464774 Neighboring gene uncharacterized LOC124905180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:41570764-41571264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:41571265-41571765 Neighboring gene RNA, 7SL, cytoplasmic 144, pseudogene Neighboring gene YWHAZ pseudogene 10 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:41577964-41578464 Neighboring gene G protein-coupled receptor 34 Neighboring gene ribosomal protein S15a pseudogene 39 Neighboring gene G protein-coupled receptor 82 Neighboring gene NANOG hESC enhancer GRCh37_chrX:41662134-41662675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20779 Neighboring gene RNA, U6 small nuclear 202, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:41944854-41946053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29562 Neighboring gene ATP5MC2 pseudogene 4 Neighboring gene RNA, U6 small nuclear 630, pseudogene

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. Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating α-synuclein in Parkinson's disease. Zhang Q, et al. Int J Biochem Cell Biol, 2023 Apr. PMID 36754160
  2. Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders. Yang K, et al. Mol Genet Genomic Med, 2022 Nov. PMID 36168867, Free PMC Article
  3. Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. Dubbs H, et al. Am J Med Genet A, 2022 Sep. PMID 35670295
  4. Functional analysis of CASK transcript variants expressed in human brain. Tibbe D, et al. PLoS One, 2021. PMID 34133460, Free PMC Article
  5. CASK related disorder: Epilepsy and developmental outcome. Giacomini T, et al. Eur J Paediatr Neurol, 2021 Mar. PMID 33640666

See all (164) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
    Title: Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
  2. Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating alpha-synuclein in Parkinson's disease.
    Title: Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating α-synuclein in Parkinson's disease.
  3. Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
    Title: Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
  4. Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
    Title: Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
  5. Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
    Title: Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
  6. Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.
    Title: Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.
  7. Functional analysis of CASK transcript variants expressed in human brain.
    Title: Functional analysis of CASK transcript variants expressed in human brain.
  8. Exploration of the Hsa-miR-1587-Protein Interaction and the Inhibition to CASK.
    Title: Exploration of the Hsa-miR-1587-Protein Interaction and the Inhibition to CASK.
  9. CASK related disorder: Epilepsy and developmental outcome.
    Title: CASK related disorder: Epilepsy and developmental outcome.
  10. Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
    Title: Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
Submit: New GeneRIF Correction See all GeneRIFs (55)

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

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

Clone Names

  • FLJ22219, FLJ31914

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables guanylate kinase activity TAS
Traceable Author Statement
more info
 PubMed 
enables neurexin family protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in GDP metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in GMP metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in calcium ion import IEA
Inferred from Electronic Annotation
more info
  
involved_in cell adhesion TAS
Traceable Author Statement
more info
 PubMed 
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cellular response to growth factor stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of keratinocyte proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of calcium ion import IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
  
located_in actin cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
colocalizes_with basement membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in basement membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in focal adhesion HDA PubMed 
located_in nuclear lamina IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in presynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in vesicle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
peripheral plasma membrane protein CASK
Names
calcium/calmodulin-dependent serin protein kinase
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase
protein lin-2 homolog
trinucleotide repeat containing 8
NP_001119526.1
NP_001119527.1
NP_001354650.1
NP_001397674.1
NP_003679.2
XP_006724629.1
XP_011542295.1
XP_011542296.1
XP_011542297.1
XP_011542298.1
XP_011542299.1
XP_047298557.1
XP_054184003.1
XP_054184004.1
XP_054184005.1
XP_054184006.1
XP_054184007.1
XP_054184008.1
XP_054184009.1

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_016754.2 RefSeqGene

    Range
    4481..413101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001126054.3 → NP_001119526.1  peripheral plasma membrane protein CASK isoform 2

    See identical proteins and their annotated locations for NP_001119526.1

    Status: REVIEWED

    Source sequence(s)
    AL158144, AL353691, AL445239, AL603754, AL627402
    Consensus CDS
    CCDS48095.1
    UniProtKB/TrEMBL
    B7ZKY2
    Related
    ENSP00000495291.2, ENST00000646120.2
    Conserved Domains (6) summary
    smart00569
    Location:348 → 401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:593 → 654
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488 → 568
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd14094
    Location:8 → 307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:710 → 883
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406 → 456
    L27; L27 domain

  2. NM_001126055.3 → NP_001119527.1  peripheral plasma membrane protein CASK isoform 3

    See identical proteins and their annotated locations for NP_001119527.1

    Status: REVIEWED

    Source sequence(s)
    AL158144, AL353691, AL445239, AL603754, AL627402
    Consensus CDS
    CCDS48094.1
    UniProtKB/TrEMBL
    B7ZKY2
    Related
    ENSP00000494183.1, ENST00000644347.1
    Conserved Domains (6) summary
    smart00569
    Location:342 → 395
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:587 → 648
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:482 → 562
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd14094
    Location:8 → 307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:709 → 882
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:400 → 450
    L27; L27 domain

  3. NM_001367721.1 → NP_001354650.1  peripheral plasma membrane protein CASK isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL158144, AL353691, AL445239, AL603754, AL627402
    Consensus CDS
    CCDS94598.1
    UniProtKB/Swiss-Prot
    A6NES1, B7ZKY0, O14936, O43215, Q17RI4, Q59HA0, Q5VT16, Q5VT17, Q5VT18, Q5VT19, Q66T42, Q9BYH6, Q9NYB2, Q9NYB3
    UniProtKB/TrEMBL
    B7ZKY2
    Related
    ENSP00000367405.1, ENST00000378163.7
    Conserved Domains (6) summary
    smart00569
    Location:348 → 401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:616 → 677
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488 → 568
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd14094
    Location:8 → 307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:738 → 911
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406 → 456
    L27; L27 domain

  4. NM_001410745.1 → NP_001397674.1  peripheral plasma membrane protein CASK isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL158144, AL353691, AL445239, AL603754, AL627402
    Consensus CDS
    CCDS94597.1
    UniProtKB/TrEMBL
    A0A2R8YE77
    Related
    ENSP00000495357.1, ENST00000644219.1

  5. NM_003688.4 → NP_003679.2  peripheral plasma membrane protein CASK isoform 1

    See identical proteins and their annotated locations for NP_003679.2

    Status: REVIEWED

    Source sequence(s)
    AL158144, AL353691, AL445239, AL603754, AL627402
    Consensus CDS
    CCDS14257.1
    UniProtKB/TrEMBL
    B7ZKY2
    Related
    ENSP00000494788.1, ENST00000645566.1
    Conserved Domains (6) summary
    smart00569
    Location:348 → 401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:616 → 677
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488 → 568
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd14094
    Location:8 → 307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:733 → 906
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406 → 456
    L27; L27 domain

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    41514934..41923554 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724566.4 → XP_006724629.1  peripheral plasma membrane protein CASK isoform X6

    See identical proteins and their annotated locations for XP_006724629.1

    UniProtKB/TrEMBL
    B7ZKY2
    Related
    ENSP00000398007.3, ENST00000442742.7
    Conserved Domains (6) summary
    smart00569
    Location:342 → 395
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:575 → 636
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:482 → 562
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd14094
    Location:8 → 307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:697 → 870
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:400 → 450
    L27; L27 domain

  2. XM_047442601.1 → XP_047298557.1  peripheral plasma membrane protein CASK isoform X3

    UniProtKB/TrEMBL
    A0A2U3TZM1
    Related
    ENSP00000367400.2, ENST00000378158.6

  3. XM_011543996.3 → XP_011542298.1  peripheral plasma membrane protein CASK isoform X5

    UniProtKB/TrEMBL
    B7ZKY2
    Conserved Domains (6) summary
    smart00569
    Location:348 → 401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:581 → 642
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488 → 568
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd14094
    Location:8 → 313
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:703 → 876
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406 → 456
    L27; L27 domain

  4. XM_011543995.3 → XP_011542297.1  peripheral plasma membrane protein CASK isoform X4

    See identical proteins and their annotated locations for XP_011542297.1

    UniProtKB/TrEMBL
    A0A7I2RJN6, B7ZKY2
    Related
    ENSP00000400526.4, ENST00000421587.8
    Conserved Domains (6) summary
    smart00569
    Location:348 → 401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:593 → 654
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488 → 568
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd14094
    Location:8 → 313
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:715 → 888
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406 → 456
    L27; L27 domain

  5. XM_011543994.3 → XP_011542296.1  peripheral plasma membrane protein CASK isoform X2

    See identical proteins and their annotated locations for XP_011542296.1

    UniProtKB/TrEMBL
    B7ZKY2
    Conserved Domains (6) summary
    smart00569
    Location:348 → 401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:604 → 665
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488 → 568
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd14094
    Location:8 → 313
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:726 → 899
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406 → 456
    L27; L27 domain

  6. XM_011543993.3 → XP_011542295.1  peripheral plasma membrane protein CASK isoform X1

    See identical proteins and their annotated locations for XP_011542295.1

    UniProtKB/TrEMBL
    B7ZKY2
    Conserved Domains (6) summary
    smart00569
    Location:348 → 401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:616 → 677
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488 → 568
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd14094
    Location:8 → 313
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:738 → 911
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406 → 456
    L27; L27 domain

  7. XM_011543997.4 → XP_011542299.1  peripheral plasma membrane protein CASK isoform X7

    UniProtKB/TrEMBL
    A0A2R8Y6F8
    Related
    ENSP00000495510.2, ENST00000646087.2
    Conserved Domains (6) summary
    smart00569
    Location:157 → 210
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:425 → 486
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:297 → 377
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:547 → 720
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:215 → 265
    L27; L27 domain
    cl21453
    Location:1 → 122
    PKc_like; Protein Kinases, catalytic domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    40919852..41328508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328033.1 → XP_054184008.1  peripheral plasma membrane protein CASK isoform X6

  2. XM_054328030.1 → XP_054184005.1  peripheral plasma membrane protein CASK isoform X3

    UniProtKB/TrEMBL
    A0A2U3TZM1

  3. XM_054328032.1 → XP_054184007.1  peripheral plasma membrane protein CASK isoform X5

  4. XM_054328031.1 → XP_054184006.1  peripheral plasma membrane protein CASK isoform X4

    UniProtKB/TrEMBL
    A0A7I2RJN6

  5. XM_054328029.1 → XP_054184004.1  peripheral plasma membrane protein CASK isoform X2

  6. XM_054328028.1 → XP_054184003.1  peripheral plasma membrane protein CASK isoform X1

  7. XM_054328034.1 → XP_054184009.1  peripheral plasma membrane protein CASK isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14936.3 GenPept UniProtKB/Swiss-Prot:O14936

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