CASK

CASK
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1KGD, 1KWA, 1ZL8, 3C0G, 3C0H, 3C0I, 3MFR, 3MFS, 3MFT, 3MFU, 3TAC
Dynodwyr
Cyfenwau	CASK, CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8, calcium/calmodulin-dependent serine protein kinase (MAGUK family), calcium/calmodulin dependent serine protein kinase, hCASK
Dynodwyr allanol	OMIM: 300172 HomoloGene: 2736 GeneCards: CASK
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • nucleotide binding • protein kinase activity • guanylate kinase activity • calmodulin binding • kinase activity • protein serine/threonine kinase activity • neurexin family protein binding • GO:0001948, GO:0016582 protein binding • ATP binding Cydrannau o'r gell • cytoplasm • nuclear lamina • fesigl • cytosol • bilen • focal adhesion • nuclear matrix • Cellbilen • synapse • basolateral plasma membrane • nucleolus • ciliary membrane • actin cytoskeleton • presynaptic membrane • cnewyllyn cell • basement membrane • cell-cell junction • Schaffer collateral - CA1 synapse Prosesau biolegol • negative regulation of cellular response to growth factor stimulus • negative regulation of keratinocyte proliferation • phosphorylation • calcium ion import • negative regulation of cell-matrix adhesion • protein phosphorylation • positive regulation of calcium ion import • cell adhesion • negative regulation of wound healing • GO:0010554 neurotransmitter secretion • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • GMP metabolic process • GDP metabolic process • regulation of synaptic vesicle exocytosis Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	8573	n/a
Ensembl	ENSG00000147044	n/a
UniProt	O14936	n/a
RefSeq (mRNA)	NM_001126054 NM_001126055 NM_003688 NM_001367721	n/a
RefSeq (protein)	NP_001119526 NP_001119527 NP_003679 NP_001354650	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn CASK yw CASK a elwir hefyd yn Calcium/calmodulin dependent serine protein kinase (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom X dynol, band Xp11.4.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn CASK.

• CMG
• FGS4
• LIN2
• TNRC8
• hCASK
• CAGH39
• CAMGUK
• MICPCH
• MRXSNA

Llyfryddiaeth

• "High expression of CASK correlates with progression and poor prognosis of colorectal cancer. ". Tumour Biol. 2014. PMID 24927672.
• CASK-Related Disorders. 1993. PMID 24278995.
• "Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). ". PLoS One. 2017. PMID 28783747.
• "A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. ". Am J Med Genet A. 2017. PMID 28139025.
• "Calcium/calmodulin-dependent serine protein kinase CASK modulates the L-type calcium current.". Cell Calcium. 2017. PMID 27720444.