Version 5.4
Homo sapiens Gene: CASK
Summary
InnateDB Gene IDBG-57627.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CASK
Gene Name calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Synonyms CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8;
Species Homo sapiens
Ensembl Gene ENSG00000147044
Encoded Proteins
IDBP-57629
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
IDBP-57631
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
IDBP-57633
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
IDBP-57635
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
IDBP-57637
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
IDBP-57643
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
IDBP-368153
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
IDBP-368154
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:41514934-41923463
Strand Reverse strand
Band p11.4
Transcripts
ENST00000378179 ENSP00000367421
ENST00000378168 ENSP00000367410
ENST00000378166 ENSP00000367408
ENST00000378163 ENSP00000367405
ENST00000378158 ENSP00000367400
ENST00000378154 ENSP00000367396
ENST00000421587 ENSP00000400526
ENST00000442742 ENSP00000398007
ENST00000472704
ENST00000469265
ENST00000486402
ENST00000468986
ENST00000477823
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
GO:0042043 neurexin family protein binding
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:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046939 nucleotide phosphorylation
GO:0061045 negative regulation of wound healing
GO:0070509 calcium ion import
GO:0090280 positive regulation of calcium ion import
GO:0090288 negative regulation of cellular response to growth factor stimulus
Cellular Component
GO:0005604 basement membrane
GO:0005634 nucleus
GO:0005652 nuclear lamina
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016363 nuclear matrix
GO:0042734 presynaptic membrane
GO:0045202 synapse
GO:0060170 ciliary membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
ENSMUSG00000031012
View Gene Order
Ortholuge
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000020136
Not yet available
Ortholuge
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
REACT_111155
Cell-Cell communication pathway
REACT_118779
Extracellular matrix organization pathway
REACT_23832
Nephrin interactions pathway
REACT_163942
Syndecan interactions pathway
REACT_163874
Non-integrin membrane-ECM interactions pathway
KEGG
hsa04530
Tight junction pathway
INOH
PID BIOCARTA
PID NCI
syndecan_2_pathway
Syndecan-2-mediated signaling events
syndecan_3_pathway
Syndecan-3-mediated signaling events
syndecan_1_pathway
Syndecan-1-mediated signaling events
Cross-References
SwissProt
TrEMBL Q5JS72
UniProt Splice Variant
Entrez Gene 8573
UniGene Hs.495984 Hs.664020
RefSeq NM_001126055 NM_003688 NM_001126054
HUGO HGNC:1497
OMIM 300172
CCDS CCDS48094 CCDS14257 CCDS48095
HPRD 02164
IMGT
EMBL AL158144 AL353691 AL445239 AL603754 AL627402
GenPept
RNA Seq Atlas 8573

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca