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MGP003608

UniProt Annotations

Entry Information
Gene Namecalcium/calmodulin-dependent serine protein kinase (MAGUK family)
Protein EntryCSKP_HUMAN
UniProt IDO14936
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Name=1; IsoId=O14936-1; Sequence=Displayed; Name=2; IsoId=O14936-2; Sequence=VSP_024426; Name=3; IsoId=O14936-3; Sequence=VSP_024422, VSP_024424; Name=4; IsoId=O14936-4; Sequence=VSP_024424, VSP_024426; Name=5; IsoId=O14936-5; Sequence=VSP_024421, VSP_024423, VSP_024424; Name=6; IsoId=O14936-6; Sequence=VSP_024425, VSP_024426; Note=Gene prediction confirmed by EST data.;
Biophysicochemical PropertiesKinetic parameters: KM=563 uM for ATP {ECO:0000269|PubMed:18423203}; Note=Kinetics of autophosphorylation assay were measured, rather than phosphorylation of an exogenous substrate.;
Catalytic ActivityATP + a protein = ADP + a phosphoprotein.
CofactorNote=Unlike other protein kinases, does not require a divalent cation such as magnesium for catalytic activity. {ECO:0000269|PubMed:18423203};
DiseaseFG syndrome 4 (FGS4) [MIM:300422]: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. {ECO:0000269|PubMed:19200522}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMental 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:0000269|PubMed:19165920, ECO:0000269|PubMed:19377476}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe first L27 domain binds DLG1 and the second L27 domain probably binds LIN7. {ECO:0000250}.
DomainThe protein kinase domain mediates the interaction with FCHSD2.
Enzyme RegulationDiffers from archetypal CaMK members in that the kinase domain exhibits a constitutively active conformation and the autoinhibitory region does not engage in direct contact with the ATP-binding cleft, although it still binds Ca(2+)/CAM. {ECO:0000269|PubMed:18423203}.
FunctionMultidomain 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.
InteractionQ8WXD9:CASKIN1; NbExp=4; IntAct=EBI-1215506, EBI-970261; Q12929:EPS8; NbExp=3; IntAct=EBI-1215506, EBI-375576; P41134:ID1; NbExp=3; IntAct=EBI-1215506, EBI-1215527; O14910:LIN7A; NbExp=3; IntAct=EBI-1215506, EBI-2513988; Q63373:Nrxn1 (xeno); NbExp=3; IntAct=EBI-1215506, EBI-1780696; Q9Y2J0:RPH3A; NbExp=3; IntAct=EBI-1215506, EBI-1216802; P34741:SDC2; NbExp=2; IntAct=EBI-1215506, EBI-1172957;
SimilarityBelongs to the MAGUK family. {ECO:0000305}.
SimilarityContains 1 guanylate kinase-like domain. {ECO:0000255|PROSITE-ProRule:PRU00100}.
SimilarityContains 1 PDZ (DHR) domain. {ECO:0000255|PROSITE- ProRule:PRU00143}.
SimilarityContains 1 protein kinase domain. {ECO:0000255|PROSITE-ProRule:PRU00159}.
SimilarityContains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule:PRU00192}.
SimilarityContains 2 L27 domains. {ECO:0000255|PROSITE- ProRule:PRU00365}.
SimilarityIn the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
SubunitBinds WHRN and NRXN1 cytosolic tail. Interacts with CASKIN1, APBA1, LIN7(A/B/C) and L27 domain of DLG1 and isoform 2 of DLG4 (By similarity). CASK and LIN7 form two mutually exclusive tripartite complexes with APBA1 or CASKIN1 (By similarity). Interacts with FCHSD2. Interacts with TSPYL2. Part of a complex containing CASK, TBR1 and TSPYL2 (By similarity). Identified in a complex with ACTN4, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By similarity). Interacts with KIRREL3. {ECO:0000250, ECO:0000269|PubMed:18423203, ECO:0000269|PubMed:19012874, ECO:0000269|PubMed:9660868}.
Tissue SpecificityUbiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver. {ECO:0000269|PubMed:11003712}.
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