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

Gene ID: 8573, updated on 8-Jul-2018
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; Vega:OTTHUMG00000021378
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
See CASK in Genome Data Viewer
Location:
Xp11.4
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (41514934..41923525, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (41374187..41782415, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 15, pseudogene Neighboring gene DEAD-box helicase 3 X-linked Neighboring gene gem nuclear organelle associated protein 7 pseudogene Neighboring gene nyctalopin Neighboring gene RNA, U6 small nuclear 1321, pseudogene Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene Neighboring gene RNA, 7SL, cytoplasmic 144, pseudogene Neighboring gene G protein-coupled receptor 34 Neighboring gene ribosomal protein S15a pseudogene 39 Neighboring gene G protein-coupled receptor 82 Neighboring gene RNA, U6 small nuclear 202, pseudogene Neighboring gene ATP synthase membrane subunit c locus 2 pseudogene 4 Neighboring gene RNA, U6 small nuclear 630, pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-28)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

ClinGen Genome Curation PagePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22219, FLJ31914

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
guanylate kinase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
GDP metabolic process IEA
Inferred from Electronic Annotation
more info
 
GMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cellular response to growth factor stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of keratinocyte proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
ciliary membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
nuclear lamina IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
presynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
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_003679.2
XP_005272743.1
XP_006724629.1
XP_011542295.1
XP_011542296.1
XP_011542297.1
XP_011542298.1
XP_011542299.1
XP_024308241.1

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_016754.1 RefSeqGene

    Range
    5001..413101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001119526.1

    Status: REVIEWED

    Description
    Transcript Variant: Transcript Variant: This variant (2) contains an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AB208859, AL445239, BC117311, DN993605
    Consensus CDS
    CCDS48095.1
    UniProtKB/Swiss-Prot
    O14936
    Related
    ENSP00000400526.3, OTTHUMP00000226872, ENST00000421587.7, OTTHUMT00000379057
    Conserved Domains (6) summary
    smart00569
    Location:348401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:593654
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488568
    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:8307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:710883
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406456
    L27; L27 domain
  2. NM_001126055.2NP_001119527.1  peripheral plasma membrane protein CASK isoform 3

    See identical proteins and their annotated locations for NP_001119527.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons and use an alternate in-frame splice site compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
    Source sequence(s)
    AB208859, AF035582, AK313399, AL445239, BC117311
    Consensus CDS
    CCDS48094.1
    UniProtKB/Swiss-Prot
    O14936
    Related
    ENSP00000494183.1, OTTHUMP00000023159, ENST00000644347.1, OTTHUMT00000056282
    Conserved Domains (6) summary
    smart00569
    Location:342395
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:587648
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:482562
    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:8307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:709882
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:400450
    L27; L27 domain
  3. NM_003688.3NP_003679.2  peripheral plasma membrane protein CASK isoform 1

    See identical proteins and their annotated locations for NP_003679.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AB208859, AF032119, AL445239, BC117311, DN993605
    Consensus CDS
    CCDS14257.1
    UniProtKB/Swiss-Prot
    O14936
    Related
    ENSP00000494788.1, OTTHUMP00000023160, ENST00000645566.1, OTTHUMT00000056283
    Conserved Domains (6) summary
    smart00569
    Location:348401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:616677
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488568
    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:8307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:733906
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406456
    L27; L27 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    41514934..41923525 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724566.3XP_006724629.1  peripheral plasma membrane protein CASK isoform X6

    See identical proteins and their annotated locations for XP_006724629.1

    Related
    ENSP00000398007.3, ENST00000442742.7
    Conserved Domains (6) summary
    smart00569
    Location:342395
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:575636
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:482562
    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:8307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:697870
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:400450
    L27; L27 domain
  2. XM_005272686.4XP_005272743.1  peripheral plasma membrane protein CASK isoform X2

    See identical proteins and their annotated locations for XP_005272743.1

    Related
    ENSP00000495357.1, OTTHUMP00000023162, ENST00000644219.1, OTTHUMT00000056285
    Conserved Domains (6) summary
    smart00569
    Location:342395
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:610671
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:482562
    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:8307
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:732905
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:400450
    L27; L27 domain
  3. XM_011543996.2XP_011542298.1  peripheral plasma membrane protein CASK isoform X5

    Conserved Domains (6) summary
    smart00569
    Location:348401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:581642
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488568
    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:8313
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:703876
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406456
    L27; L27 domain
  4. XM_011543995.2XP_011542297.1  peripheral plasma membrane protein CASK isoform X4

    See identical proteins and their annotated locations for XP_011542297.1

    Related
    ENSP00000495510.1, ENST00000646087.1
    Conserved Domains (6) summary
    smart00569
    Location:348401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:593654
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488568
    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:8313
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:715888
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406456
    L27; L27 domain
  5. XM_011543994.2XP_011542296.1  peripheral plasma membrane protein CASK isoform X3

    See identical proteins and their annotated locations for XP_011542296.1

    Related
    ENSP00000367400.2, ENST00000378158.6
    Conserved Domains (6) summary
    smart00569
    Location:348401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:604665
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488568
    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:8313
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:726899
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406456
    L27; L27 domain
  6. XM_011543993.2XP_011542295.1  peripheral plasma membrane protein CASK isoform X1

    See identical proteins and their annotated locations for XP_011542295.1

    Conserved Domains (6) summary
    smart00569
    Location:348401
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:616677
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:488568
    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:8313
    STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
    pfam00625
    Location:738911
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:406456
    L27; L27 domain
  7. XM_011543997.3XP_011542299.1  peripheral plasma membrane protein CASK isoform X7

    Conserved Domains (6) summary
    smart00569
    Location:157210
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12081
    Location:425486
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    cd00992
    Location:297377
    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:547720
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:215265
    L27; L27 domain
    cl21453
    Location:1122
    PKc_like; Protein Kinases, catalytic domain
  8. XM_024452473.1XP_024308241.1  peripheral plasma membrane protein CASK isoform X8

    Conserved Domains (6) summary
    smart00569
    Location:157210
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12035
    Location:390451
    SH3_MPP1-like; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)-like proteins
    cd00992
    Location:297377
    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:512685
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:215265
    L27; L27 domain
    cl21453
    Location:1122
    PKc_like; Protein Kinases, catalytic domain
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