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

Gene ID: 8573, updated on 7-Aug-2014
Official Symbol
CASKprovided by HGNC
Official Full Name
calcium/calmodulin-dependent serine protein kinase (MAGUK family)provided by HGNC
Primary source
HGNC:1497
Locus tag
RP11-540L11.1
See related
Ensembl:ENSG00000147044; HPRD:02164; 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; 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, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
See CASK in Epigenomics, MapViewer
Location:
Xp11.4
Exon count:
27
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (41514934..41923155, 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 DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked Neighboring gene gem (nuclear organelle) associated protein 7 pseudogene Neighboring gene nyctalopin Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide pseudogene Neighboring gene ribosomal protein S15a pseudogene 39 Neighboring gene G protein-coupled receptor 34 Neighboring gene G protein-coupled receptor 82 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4 Neighboring gene protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
FG syndrome 4
MedGen: C1845546 OMIM: 300422 GeneReviews: Not available
Compare labs
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
MedGen: C2677903 OMIM: 300749 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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 
neurexin family protein binding IEA
Inferred from Electronic Annotation
more info
 
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
calcium ion import IEA
Inferred from Electronic Annotation
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide phosphorylation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of calcium ion import IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
colocalizes_with basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
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
peripheral plasma membrane protein CASK
hCASK
protein lin-2 homolog
trinucleotide repeat containing 8
calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase
NP_001119526.1
NP_001119527.1
NP_003679.2

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 

    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 proteins identical to 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
    Conserved Domains (7) summary
    cd12081
    Location:593654
    Blast Score: 346
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    smart00220
    Location:12276
    Blast Score: 775
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00071
    Location:714879
    Blast Score: 275
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:488568
    Blast Score: 200
    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:710883
    Blast Score: 587
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:405454
    Blast Score: 163
    L27; L27 domain
    cl09925
    Location:12274
    Blast Score: 564
    PKc_like; Protein Kinases, catalytic domain
  2. NM_001126055.2NP_001119527.1  peripheral plasma membrane protein CASK isoform 3

    See proteins identical to 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
    ENSP00000400526, OTTHUMP00000023159, ENST00000421587, OTTHUMT00000056282
    Conserved Domains (7) summary
    cd12081
    Location:587648
    Blast Score: 345
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    smart00220
    Location:12276
    Blast Score: 774
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00071
    Location:713878
    Blast Score: 275
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:482562
    Blast Score: 200
    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:709882
    Blast Score: 587
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:399448
    Blast Score: 163
    L27; L27 domain
    cl09925
    Location:12274
    Blast Score: 564
    PKc_like; Protein Kinases, catalytic domain
  3. NM_003688.3NP_003679.2  peripheral plasma membrane protein CASK isoform 1

    See proteins identical to 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
    Conserved Domains (7) summary
    cd12081
    Location:616677
    Blast Score: 346
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    smart00220
    Location:12276
    Blast Score: 779
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00071
    Location:737902
    Blast Score: 276
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:488568
    Blast Score: 200
    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:733906
    Blast Score: 588
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:405454
    Blast Score: 163
    L27; L27 domain
    cl09925
    Location:12274
    Blast Score: 566
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    41514934..41923155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724566.1XP_006724629.1  

    See proteins identical to XP_006724629.1

    Conserved Domains (7) summary
    cd12081
    Location:575636
    Blast Score: 346
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    smart00220
    Location:12276
    Blast Score: 773
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00071
    Location:701866
    Blast Score: 274
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:482562
    Blast Score: 199
    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:697870
    Blast Score: 587
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:399448
    Blast Score: 163
    L27; L27 domain
    cl09925
    Location:12274
    Blast Score: 564
    PKc_like; Protein Kinases, catalytic domain
  2. XM_006724565.1XP_006724628.1  

    See proteins identical to XP_006724628.1

    Conserved Domains (7) summary
    cd12081
    Location:598659
    Blast Score: 346
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    smart00220
    Location:12276
    Blast Score: 777
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00071
    Location:724889
    Blast Score: 275
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:482562
    Blast Score: 200
    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:720893
    Blast Score: 588
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:399448
    Blast Score: 163
    L27; L27 domain
    cl09925
    Location:12274
    Blast Score: 565
    PKc_like; Protein Kinases, catalytic domain
  3. XM_005272686.2XP_005272743.1  

    See proteins identical to XP_005272743.1

    Related
    ENSP00000322727
    Conserved Domains (7) summary
    cd12081
    Location:610671
    Blast Score: 346
    SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
    smart00220
    Location:12276
    Blast Score: 779
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00071
    Location:736901
    Blast Score: 276
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:482562
    Blast Score: 200
    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:732905
    Blast Score: 588
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:399448
    Blast Score: 164
    L27; L27 domain
    cl09925
    Location:12274
    Blast Score: 565
    PKc_like; Protein Kinases, catalytic domain

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    39105639..39513256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    41406782..41814790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)