• Gene id: 391104

Gene Summary

• Gene Symbol: VHLL   Gene   UCSC   Ensembl
• Aliases: VHLP, VLP
• Gene name: VHL like
• Alternate names: von Hippel-Lindau-like protein, VHL pseudogene, VHL-like protein, von Hippel-Lindau tumor suppressor like,
• Gene location: 1q22 (156299306: 156298623)     Exons: 1     NC_000001.11
• Gene summary(Entrez): Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation

Protein Summary

• Protein general information: Q6RSH7  
  • Name: von Hippel Lindau like protein (VHL like protein) (VLP)
  • Length: 139  
  • Mass: 15781
  • Tissue specificity: Abundantly expressed in the placenta. {ECO
• Sequence:

  MPWRAGNGVGLEAQAGTQEAGPEEYCQEELGAEEEMAARAAWPVLRSVNSRELSRIIICNHSPRIVLPVWLNYYG
  KLLPYLTLLPGRDFRIHNFRSHPWLFRDARTHDKLLVNQTELFVPSSNVNGQPVFANITLQCIP

• Structural information:
  • Interpro: IPR024053  IPR037140  IPR036208  IPR022772  
  • CDD: cd05468
  • STRING: ENSP00000464258
• Other Databases: GeneCards:  VHLL  Malacards:  VHLL

Gene ontology

GO accession	Term name	Evidence code	Go category
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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq