Von Hippel-Lindau tumor suppressor gene

VHL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 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
Identifiers
Aliases	VHL, HRCA1, RCA1, VHL1, pvon Hippel-Lindau tumor suppressor
External IDs	OMIM: 608537 MGI: 103223 HomoloGene: 465 GeneCards: VHL
Gene location (Human) Chr. Chromosome 3 (human) Band 3p25.3 Start 10,141,008 bp End 10,152,220 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 E3|6 52.81 cM Start 113,623,959 bp End 113,631,633 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • ubiquitin protein ligase activity • transcription factor binding • ubiquitin-protein transferase activity • protein binding • enzyme binding Cellular component • cytoplasm • cytosol • VCB complex • membrane • nucleoplasm • endoplasmic reticulum • mitochondrion • nucleus Biological process • regulation of transcription, DNA-templated • protein stabilization • negative regulation of apoptotic process • negative regulation of transcription from RNA polymerase II promoter • proteolysis • positive regulation of transcription, DNA-templated • positive regulation of cell differentiation • 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 proliferation • negative regulation of gene expression • protein ubiquitination • post-translational protein modification • negative regulation of JAK-STAT cascade Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7428	22346
Ensembl	ENSG00000134086	ENSMUSG00000033933
UniProt	P40337	P40338
RefSeq (mRNA)	NM_000551 NM_198156 NM_001354723	NM_009507
RefSeq (protein)	NP_000542 NP_937799 NP_001341652 NP_000542.1	NP_033533
Location (UCSC)	Chr 3: 10.14 – 10.15 Mb	Chr 3: 113.62 – 113.63 Mb
PubMed search

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

7428

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