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    VHLL VHL like [ Homo sapiens (human) ]

    Gene ID: 391104, updated on 17-Sep-2024

    Summary

    Official Symbol
    VHLLprovided by HGNC
    Official Full Name
    VHL likeprovided by HGNC
    Primary source
    HGNC:HGNC:30666
    See related
    Ensembl:ENSG00000189030 MIM:619650; AllianceGenome:HGNC:30666
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    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
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    Genomic context

    See VHLL in Genome Data Viewer
    Location:
    1q22
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156298624..156299307, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155437091..155437774, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156268415..156269098, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SMG5 nonsense mediated mRNA decay factor Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:156252643-156253614 Neighboring gene Sharpr-MPRA regulatory regions 9834 and 13552 Neighboring gene transmembrane protein 79 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156271210-156271710 Neighboring gene MPRA-validated peak424 silencer Neighboring gene glycosylated lysosomal membrane protein Neighboring gene chaperonin containing TCP1 subunit 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156297025-156297871 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:156297872-156298717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1859 Neighboring gene TSSK6 activating cochaperone Neighboring gene Rh family B glycoprotein

    Genomic regions, transcripts, and products

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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)

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    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_001004319.3NP_001004319.1  von Hippel-Lindau-like protein

      See identical proteins and their annotated locations for NP_001004319.1

      Status: VALIDATED

      Source sequence(s)
      AL589685
      UniProtKB/Swiss-Prot
      A1L4M4, Q6RSH7
      Related
      ENSP00000464258.2, ENST00000339922.5
      Conserved Domains (1) summary
      cl03381
      Location:45126
      pVHL; von Hippel-Landau (pVHL) tumor suppressor protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      156298624..156299307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155437091..155437774 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.