InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CASK

Summary

InnateDB Protein

IDBP-368154.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CASK

Protein Name

calcium/calmodulin-dependent serine protein kinase (MAGUK family)

Synonyms

CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8;

Species

Homo sapiens

Ensembl Protein

ENSP00000398007

InnateDB Gene

IDBG-57627 (CASK)

Protein Structure

UniProt Annotation

Function

Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1.

Subcellular Localization

Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.

Disease Associations

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus. {ECO:0000269PubMed:19165920, ECO:0000269PubMed:19377476}. Note=The disease is caused by mutations affecting the gene represented in this entry.FG syndrome 4 (FGS4) [MIM:300422]: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. {ECO:0000269PubMed:19200522}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver. {ECO:0000269PubMed:11003712}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 81 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	81 [view]
Protein-Protein	80 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004385	guanylate kinase activity
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups

Biological Process

GO:0001953	negative regulation of cell-matrix adhesion
GO:0006468	protein phosphorylation
GO:0007155	cell adhesion
GO:0010839	negative regulation of keratinocyte proliferation
GO:0030198	extracellular matrix organization
GO:0046939	nucleotide phosphorylation
GO:0061045	negative regulation of wound healing
GO:0090288	negative regulation of cellular response to growth factor stimulus

Cellular Component

GO:0005604	basement membrane
GO:0005652	nuclear lamina
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005911	cell-cell junction
GO:0015629	actin cytoskeleton
GO:0016363	nuclear matrix
GO:0042734	presynaptic membrane
GO:0060170	ciliary membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR001452 SH3 domain
IPR001478 PDZ domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR004172 L27
IPR008144 Guanylate kinase-like
IPR008145 Guanylate kinase/L-type calcium channel beta subunit
IPR011009 Protein kinase-like domain
IPR011511 Variant SH3 domain
IPR014775 L27, C-terminal
IPR020635 Tyrosine-protein kinase, catalytic domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM