VHL

VHL
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	4WQO, 1LM8, 1LQB, 1VCB, 3ZRC, 3ZRF, 3ZTC, 3ZTD, 3ZUN, 4AJY, 4AWJ, 4B95, 4B9K, 4BKS, 4BKT, 4W9C, 4W9D, 4W9E, 4W9F, 4W9G, 4W9H, 4W9I, 4W9J, 4W9K, 4W9L
Dynodwyr
Cyfenwau	VHL, HRCA1, RCA1, VHL1, pvon Hippel-Lindau tumor suppressor
Dynodwyr allanol	OMIM: 608537 HomoloGene: 465 GeneCards: VHL
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity; • transcription factor binding; • GO:0050372 ubiquitin-protein transferase activity; • GO:0001948, GO:0016582 protein binding; • enzyme binding;
Cydrannau o'r gell	• cytoplasm; • cytosol; • VCB complex; • bilen; • nucleoplasm; • Reticwlwm endoplasmig; • mitocondria; • cnewyllyn cell;
Prosesau biolegol	• GO:0009373 regulation of transcription, DNA-templated; • protein stabilization; • negative regulation of apoptotic process; • GO:1901227 negative regulation of transcription by RNA polymerase II; • proteolysis; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • positive regulation of cell differentiation; • GO:0000767 cell morphogenesis; • regulation of transcription from RNA polymerase II promoter in response to hypoxia; • negative regulation of transcription from RNA polymerase II promoter in response to hypoxia; • negative regulation of cell population proliferation; • negative regulation of gene expression; • protein ubiquitination; • post-translational protein modification; • negative regulation of receptor signaling pathway via JAK-STAT;
	Sources:Amigo / QuickGO
Orthologau
	7428
	n/a
	ENSG00000134086
	n/a
	P40337
	n/a
	NM_000551; NM_198156; NM_001354723
	n/a
	NP_000542; NP_937799; NP_001341652; NP_000542.1
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn VHL yw VHL a elwir hefyd yn von Hippel-Lindau tumor suppressor isoform 2 a Von Hippel-Lindau tumor suppressor (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 3, band 3p25.3.^[2]

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 VHL.

RCA1
VHL1
pVHL
HRCA1

Llyfryddiaeth

"Expression of von Hippel-Lindau tumor suppressor protein (pVHL) characteristic of tongue cancer and proliferative lesions in tongue epithelium. ". BMC Cancer. 2017. PMID 28549422.
"Prognostic and predictive value of VHL gene alteration in renal cell carcinoma: a meta-analysis and review. ". Oncotarget. 2017. PMID 28103578.
"Deregulated expression of VHL mRNA variants in papillary thyroid cancer. ". Mol Cell Endocrinol. 2017. PMID 28089820.
"The Clinicopathological Significance of Epigenetic Silencing of VHL Promoter and Renal Cell Carcinoma: A Meta-Analysis. ". Cell Physiol Biochem. 2016. PMID 27997886.
"VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.". Genet Test Mol Biomarkers. 2016. PMID 27617348.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] VHL - Cronfa NCBI

[1]

[2]