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VHLL VHL like [ Homo sapiens (human) ]

Gene ID: 391104, updated on 5-Aug-2018

Summary

Official Symbol
VHLLprovided by HGNC
Official Full Name
VHL likeprovided by HGNC
Primary source
HGNC:HGNC:30666
See related
Ensembl:ENSG00000189030 Vega:OTTHUMG00000024058
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VLP; VHLP
Summary
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 of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpreted as a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in this RefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicates that this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions as a dominant-negative VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan 2010]
Orthologs

Genomic context

See VHLL in Genome Data Viewer
Location:
1q22
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (156298624..156299637, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156268415..156269428, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SMG5, nonsense mediated mRNA decay factor Neighboring gene Sharpr-MPRA regulatory regions 9834 and 13552 Neighboring gene transmembrane protein 79 Neighboring gene glycosylated lysosomal membrane protein Neighboring gene chaperonin containing TCP1 subunit 3 Neighboring gene TSSK6 activating cochaperone Neighboring gene Rh family B glycoprotein (gene/pseudogene)

Genomic regions, transcripts, and products

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
VCB complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
von Hippel-Lindau-like protein
Names
VHL pseudogene
VHL-like protein
von Hippel-Lindau tumor suppressor like

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001004319.2NP_001004319.1  von Hippel-Lindau-like protein

    See identical proteins and their annotated locations for NP_001004319.1

    Status: REVIEWED

    Source sequence(s)
    AA324790, AL589685, AY494836
    UniProtKB/Swiss-Prot
    Q6RSH7
    Related
    ENSP00000464258.1, OTTHUMP00000262305, ENST00000339922.4, OTTHUMT00000060590
    Conserved Domains (1) summary
    cl03381
    Location:45126
    pVHL; von Hippel-Landau (pVHL) tumor suppressor protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    156298624..156299637 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_012639.1: Suppressed sequence

    Description
    NG_012639.1: This RefSeq was removed because the protein coding status of this gene is questionable.
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