• Gene id: 8573

Gene Summary

• Gene Symbol: CASK   Gene   UCSC   Ensembl
• Aliases: CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8, hCASK
• Gene name: calcium/calmodulin dependent serine protein kinase
• Alternate names: peripheral plasma membrane protein CASK, 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,
• Gene location: Xp11.4 (41923553: 41514933)     Exons: 28     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 610275

Protein Summary

• Protein general information: O14936  
  • Name: Peripheral plasma membrane protein CASK (hCASK) (EC 2.7.11.1) (Calcium/calmodulin dependent serine protein kinase) (Protein lin 2 homolog)
  • Length: 926  
  • Mass: 105123
  • 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
• Sequence:

  MADDDVLFEDVYELCEVIGKGPFSVVRRCINRETGQQFAVKIVDVAKFTSSPGLSTEDLKREASICHMLKHPHIV
  ELLETYSSDGMLYMVFEFMDGADLCFEIVKRADAGFVYSEAVASHYMRQILEALRYCHDNNIIHRDVKPHCVLLA
  SKENSAPVKLGGFGVAIQLGESGLVAGGRVGTPHFMAPEVVKREPYGKPVDVWGCGVILFILLSGCLPFYGTKER
  LFEGIIKGKYKMNPRQWSHISESAKDLVRRMLMLDPAERITVYEALNHPWLKERDRYAYKIHLPETVEQLRKFNA
  RRKLKGAVLAAVSSHKFNSFYGDPPEELPDFSEDPTSSGLLAAERAVSQVLDSLEEIHALTDCSEKDLDFLHSVF
  QDQHLHTLLDLYDKINTKSSPQIRNPPSDAVQRAKEVLEEISCYPENNDAKELKRILTQPHFMALLQTHDVVAHE
  VYSDEALRVTPPPTSPYLNGDSPESANGDMDMENVTRVRLVQFQKNTDEPMGITLKMNELNHCIVARIMHGGMIH
  RQGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNS
  VSDLPSTTQPKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSP
  ELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVFDQLDLVTYEEVVKLPAFKRKTLVLLGAHGV
  GRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRK
  IHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEID
  ETIRHLEEAVELVCTAPQWVPVSWVY

• Structural information:
  • Protein Domains: (12..27-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (343..39-)
    (/note="L27-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00365-)
    (402..45-)
    (/note="L27-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU003-)
  • Interpro: IPR035473  IPR008145  IPR008144  IPR020590  IPR011009   IPR014775  IPR004172  IPR036892  IPR027417  IPR001478  IPR036034  IPR000719  IPR036028  IPR001452  
  • Prosite: PS00856 PS50052 PS51022 PS50106 PS50011 PS50002
  • CDD: cd12081
  • PDB: 1KGD 1KWA 1ZL8 3C0G 3C0H 3C0I 3MFR 3MFS 3MFT 3MFU 3TAC
  • PDBsum: 1KGD 1KWA 1ZL8 3C0G 3C0H 3C0I 3MFR 3MFS 3MFT 3MFU 3TAC
  • DIP: 38727
  • STRING: ENSP00000367408
• Other Databases: GeneCards:  CASK  Malacards:  CASK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005604	basement membrane	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0010839	negative regulation of keratinocyte proliferation	IDA	biological process
GO:0005652	nuclear lamina	IDA	cellular component
GO:0090288	negative regulation of cellular response to growth factor stimulus	IMP	biological process
GO:0061045	negative regulation of wound healing	IMP	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004385	guanylate kinase activity	TAS	molecular function
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0070509	calcium ion import	IEA	biological process
GO:0090280	positive regulation of calcium ion import	IEA	biological process
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031982	vesicle	IEA	cellular component
GO:0042043	neurexin family protein binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005604	basement membrane	IDA	colocalizes with
GO:0005730	nucleolus	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0005652	nuclear lamina	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0001953	negative regulation of cell-matrix adhesion	IMP	biological process
GO:0010839	negative regulation of keratinocyte proliferation	IMP	biological process
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0060170	ciliary membrane	ISS	cellular component
GO:0061045	negative regulation of wound healing	IMP	biological process
GO:0090288	negative regulation of cellular response to growth factor stimulus	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0046710	GDP metabolic process	IEA	biological process
GO:0046037	GMP metabolic process	IEA	biological process
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
FG syndrome	KEGG:H00894
MICPCH syndrome	KEGG:H01921
FG syndrome	KEGG:H00894
MICPCH syndrome	KEGG:H01921
FG syndrome	PMID:19200522
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881