• Gene id: 7428

Gene Summary

• Gene Symbol: VHL   Gene   UCSC   Ensembl
• Aliases: HRCA1, RCA1, VHL1, pVHL
• Gene name: von Hippel-Lindau tumor suppressor
• Alternate names: von Hippel-Lindau disease tumor suppressor, elongin binding protein, protein G7, von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase,
• Gene location: 3p25.3 (10141777: 10153666)     Exons: 4     NC_000003.12
• Gene summary(Entrez): Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by thi
• OMIM: 618865

Protein Summary

• Protein general information: P40337  
  • Name: von Hippel Lindau disease tumor suppressor (Protein G7) (pVHL)
  • Length: 213  
  • Mass: 24153
  • Tissue specificity: Expressed in the adult and fetal brain and kidney.
• Sequence:

  MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPRPVLRSVNSREPSQVI
  FCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFRDAGTHDGLLVNQTELFVPSLNVDGQPIFAN
  ITLPVYTLKERCLQVVRSLVKPENYRRLDIVRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD

• Structural information:
  • Interpro: IPR002714  IPR024048  IPR037139  IPR024053  IPR037140   IPR036208  IPR022772  
  • CDD: cd05468
  • PDB: 1LM8 1LQB 1VCB 3ZRC 3ZRF 3ZTC 3ZTD 3ZUN 4AJY 4AWJ 4B95 4B9K 4BKS 4BKT 4W9C 4W9D 4W9E 4W9F 4W9G 4W9H 4W9I 4W9J 4W9K 4W9L 4WQO 5LLI 5N4W 5NVV 5NVW 5NVX 5NVY 5NVZ 5NW0 5NW1 5NW2 5T35 6BVB 6FMI 6FMJ 6FMK 6GFX 6GFY 6GFZ 6GMN 6GMQ 6GMR 6GMX 6HAX 6HAY 6HR2 6I7Q 6I7R 6R6H 6R7F 6SIS
  • PDBsum: 1LM8 1LQB 1VCB 3ZRC 3ZRF 3ZTC 3ZTD 3ZUN 4AJY 4AWJ 4B95 4B9K 4BKS 4BKT 4W9C 4W9D 4W9E 4W9F 4W9G 4W9H 4W9I 4W9J 4W9K 4W9L 4WQO 5LLI 5N4W 5NVV 5NVW 5NVX 5NVY 5NVZ 5NW0 5NW1 5NW2 5T35 6BVB 6FMI 6FMJ 6FMK 6GFX 6GFY 6GFZ 6GMN 6GMQ 6GMR 6GMX 6HAX 6HAY 6HR2 6I7Q 6I7R 6R6H 6R7F 6SIS
  • DIP: 32585
  • STRING: ENSP00000256474
• Other Databases: GeneCards:  VHL  Malacards:  VHL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990756	ubiquitin ligase-substrate adaptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016567	protein ubiquitination	IDA	biological process
GO:0030891	VCB complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008134	transcription factor binding	TAS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0016567	protein ubiquitination	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	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: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:0005515	protein binding	IPI	molecular function
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0046426	negative regulation of receptor signaling pathway via JAK-STAT	IMP	biological process
GO:0061428	negative regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA	biological process
GO:0050821	protein stabilization	NAS	biological process
GO:0043066	negative regulation of apoptotic process	NAS	biological process
GO:0000902	cell morphogenesis	NAS	biological process
GO:0016567	protein ubiquitination	IMP	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005739	mitochondrion	NAS	cellular component
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:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045597	positive regulation of cell differentiation	NAS	biological process
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0019899	enzyme 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

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04120	Ubiquitin mediated proteolysis
hsa04066	HIF-1 signaling pathway
hsa05211	Renal cell carcinoma

Diseases

Associated diseases	References
Malignant paraganglioma	KEGG:H01510
Congenital polycythemia	KEGG:H00236
Renal cell carcinoma	KEGG:H00021
von Hippel-Lindau syndrome	KEGG:H00559
Malignant paraganglioma	KEGG:H01510
Congenital polycythemia	KEGG:H00236
Renal cell carcinoma	KEGG:H00021
von Hippel-Lindau syndrome	KEGG:H00559
Pheochromocytoma	PMID:12500216
Hypertension	PMID:12500216
pancreatic cancer	PMID:9488521
pancreatic ductal carcinoma	PMID:19065635
renal cell carcinoma	PMID:15932632
Polycythemia	PMID:16210343
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