VHLL
von Hippel-Lindau-like protein
Also known as: VHLL_HUMAN, VHLP, VLP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6RSH7
- Gene
- VHLL
- Ensembl
- ENSG00000189030
- Chromosome
- 1
- Canonical length
- 139 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
139 residues, UniProt reviewed canonical sequence.
>Q6RSH7|VHLL
1 MPWRAGNGVG LEAQAGTQEA GPEEYCQEEL GAEEEMAARA AWPVLRSVNS RELSRIIICN
61 HSPRIVLPVW LNYYGKLLPY LTLLPGRDFR IHNFRSHPWL FRDARTHDKL LVNQTELFVP
121 SSNVNGQPVF ANITLQCIPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VHLL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 0.5 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 0.5 nTPM
- retina: 0.3 nTPM
- esophagus: 0.1 nTPM
- pancreas: 0.1 nTPM
- skeletal muscle: 0.1 nTPM
- testis: 0.1 nTPM
Single-cell type
- endometrial secretory cells: 0.3 nCPM
- suprabasal keratinocytes: 0.3 nCPM
- corticotrophs: 0.1 nCPM
- endometrial luminal cells: 0.1 nCPM
- myonuclei: 0.1 nCPM
- pancreatic islet cells: 0.1 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 3.8 nTPM
- cerebral cortex: 1.8 nTPM
- white matter: 1.6 nTPM
- hypothalamus: 1.4 nTPM
- basal ganglia: 1.2 nTPM
- hippocampal formation: 1.2 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD missense Z
- 0.43
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
Protein domainsUniProt · Pfam · InterPro
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads VHLL as an antibody target. Whether an autoantibody or antibody against VHLL could matter depends on whether native VHLL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VHLL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label VHLL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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