VBP1 VHL binding protein 1
Gene ID: 7411, updated on 19-Sep-2024Gene type: protein coding
Also known as: PFD3; PFDN3; VBP-1; HIBBJ46
- See all available tests in GTR for this gene
- Go to complete Gene record for VBP1
- Go to Variation Viewer for VBP1 variants
Summary
The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. The encoded protein functions as a chaperone protein, and may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. Alternative splicing and the use of alternate transcription start sites results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Jan 2015]
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (155197007..155239841)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VBP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- VBP1 @ LOVD
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