RASA1

RASA1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1WER, 1WQ1, 2GQI, 2J05, 2J06, 2M51, 4FSS, 2GSB
Dynodwyr
Cyfenwau	RASA1, CM-AVM, CMAVM, GAP, PKWS, RASA, RASGAP, p120GAP, p120RASGAP, RAS p21 protein activator 1, p120, CMAVM1
Dynodwyr allanol	OMIM: 139150 HomoloGene: 2168 GeneCards: RASA1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • potassium channel inhibitor activity • GO:0001948, GO:0016582 protein binding • GTPase binding • signaling receptor binding • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity • phosphotyrosine residue binding • GO:0006184 GTPase activity Cydrannau o'r gell • cytoplasm • cytosol • intrinsic component of the cytoplasmic side of the plasma membrane • ruffle • Cellbilen Prosesau biolegol • GO:1904089 negative regulation of neuron apoptotic process • negative regulation of cell adhesion • GO:0007243 intracellular signal transduction • blood vessel morphogenesis • ephrin receptor signaling pathway • GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 regulation of GTPase activity • mitotic cytokinesis • MAPK cascade • negative regulation of Ras protein signal transduction • negative regulation of cell-matrix adhesion • vasculogenesis • regulation of actin filament polymerization • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity • regulation of RNA metabolic process • regulation of cell shape • GO:0072468 signal transduction • negative regulation of apoptotic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5921	n/a
Ensembl	ENSG00000145715	n/a
UniProt	P20936	n/a
RefSeq (mRNA)	NM_002890 NM_022650	n/a
RefSeq (protein)	NP_002881 NP_072179	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 RASA1 yw RASA1 a elwir hefyd yn RAS p21 protein activator 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 5, band 5q14.3.

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 RASA1.

• GAP
• PKWS
• RASA
• p120
• CMAVM
• CM-AVM
• RASGAP
• p120GAP
• p120RASGAP

Llyfryddiaeth

• "Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. ". Am J Med Genet A. 2015. PMID 26096958.
• "Downregulation of Ras GTPase‑activating protein 1 is associated with poor survival of breast invasive ductal carcinoma patients. ". Oncol Rep. 2015. PMID 25394563.
• "Down-regulation of RASA1 Is Associated with Poor Prognosis in Human Hepatocellular Carcinoma. ". Anticancer Res. 2017. PMID 28179330.
• "RNA-binding protein QKI-5 inhibits the proliferation of clear cell renal cell carcinoma via post-transcriptional stabilization of RASA1 mRNA. ". Cell Cycle. 2016. PMID 27767378.
• "RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.". Am J Med Genet A. 2016. PMID 26969842.