VHL - von Hippel-Lindau tumor suppressor Gene
Also Known as RCA1; VHL1; pVHL; HRCA1
Species: Homo sapiens
About VHL
This gene has 6 transcripts (splice variants), 168 orthologues, 1 paralogue and is associated with 102 phenotypes. Ubiquitous expression in lymph node (RPKM 12.2), spleen (RPKM 10.0) and 25 other tissues.
Summary
This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. In addition to oxygen-related gene expression, this protein plays a role in many Other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]
VHL Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000551.4 | NP_000542.1 | von Hippel-Lindau disease tumor suppressor isoform 1 |
| NM_001354723.2 | NP_001341652.1 | von Hippel-Lindau disease tumor suppressor isoform 3 |
| NM_198156.3 | NP_937799.1 | von Hippel-Lindau disease tumor suppressor isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
11641274 | GOA |
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
11641274 | GOA |
| enables molecular adaptor activity |
EXP
EXP: Inferred from Experiment
|
10205047 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7660122 | GOA |
| enables transcription elongation factor activity |
IDA
IDA: Inferred from direct assay
|
7660122 | GOA |
| enables ubiquitin-like ligase-substrate adaptor activity |
IDA
IDA: Inferred from direct assay
|
24899725 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
34290272 | GOA |
| is active in intracellular non-membrane-bounded organelle |
EXP
EXP: Inferred from Experiment
|
14963040 | GOA |
VHL Protein Structure
VHL: VHL beta domain (58 - 213)
- 0
- 100
- 200
- 213 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
von Hippel-Lindau disease tumor suppressor |
|
VHL Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
VHL | P40337 | FN1 | Homo sapiens | P02751 | 18323857 | |
|
Intra
|
VHL | P40337 | RNF139 | Homo sapiens | Q8WU17 | 12032852 | |
|
Cross
|
VHL | P40337 | P0C6X7-PRO_0000037322 | Human SARS coronavirus | P0C6X7-PRO_0000037322 | 25732088 | |
|
Cross
|
VHL | P40337 | P0C6X7-PRO_0000037322 | Human SARS coronavirus | P0C6X7-PRO_0000037322 | 25732088 | |
|
Cross
|
VHL | P40337 | P0C6X7-PRO_0000037322 | Human SARS coronavirus | P0C6X7-PRO_0000037322 | 25732088 | |
|
Intra
|
VHL | P40337 | PRKCZ | Homo sapiens | Q05513 | 17350623 | |
|
Intra
|
VHL | P40337 | PRKCZ | Homo sapiens | Q05513 | 17350623 | |
|
Intra
|
VHL | P40337 | RACK1 | Homo sapiens | P63244 | 20871634 | |
|
Intra
|
VHL | P40337 | RACK1 | Homo sapiens | P63244 | 20871634 | |
|
Intra
|
VHL | P40337 | RACK1 | Homo sapiens | P63244 | 20871634 | |
|
Cross
|
VHL | P40337 | Hif1a | Mus musculus | Q61221 | 11292862 | |
|
Cross
|
VHL | P40337 | Hif1a | Mus musculus | Q61221 | 11292862 | |
|
Intra
|
VHL | P40337 | HIF1A | Homo sapiens | Q16665 | 11292862 | |
|
Intra
|
VHL | P40337 | HIF1A | Homo sapiens | Q16665 | 21602890 | |
|
Intra
|
VHL | P40337 | HIF1A | Homo sapiens | Q16665 | 11292862 | |
|
Intra
|
VHL | P40337 | HIF1A | Homo sapiens | Q16665 | 34818544 | |
|
Intra
|
VHL | P40337 | CUL2 | Homo sapiens | Q13617 | 15601820 | |
|
Intra
|
VHL | P40337 | CUL2 | Homo sapiens | Q13617 | 33961781 | |
|
Intra
|
VHL | P40337 | CUL2 | Homo sapiens | Q13617 | 15601820 | |
|
Intra
|
VHL | P40337 | CUL2 | Homo sapiens | Q13617 | 25661653 | |
|
Intra
|
VHL | P40337 | CUL2 | Homo sapiens | Q13617 | 18323857 | |
|
Intra
|
VHL | P40337 | CUL2 | Homo sapiens | Q13617 | 17353931 | |
|
Intra
|
VHL | P40337 | MDFI | Homo sapiens | Q99750 | 25416956 | |
|
Intra
|
VHL | P40337 | TGM2 | Homo sapiens | P21980 | 21625219 | |
|
Intra
|
VHL | P40337 | TGM2 | Homo sapiens | P21980 | 21625219 | |
|
Intra
|
VHL | P40337 | TGM2 | Homo sapiens | P21980 | 21625219 | |
|
Intra
|
VHL | P40337 | PRMT1 | Homo sapiens | Q99873 | 23455924 |
Recombinant VHL Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P76124 | VHL Protein, Human (His) | P40337 (M1-D213) | ≥ 90%, as determined by reducing SDS-PAGE. |
VHL Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80517 | VHL Antibody (YA683) | IHC-P | Human |
| HY-P86001 | VHL Antibody (YA5693) | IHC-P, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Von Hippel-Lindau Syndrome |
|
|
| Erythrocytosis, Familial, 2 |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Pheochromocytoma |
|
|
| Retinal Hemangioblastoma |
|
|
| Acute Biphenotypic Leukemia |
|
|
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Hemangioblastoma |
|
|
| Microcystic Adenoma |
|
|
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
|
| Cystadenoma |
|
|
| Polycythemia |
|
|
| Paraganglioma |
|
|
| Primary Polycythemia |
|
|
| Multiple Endocrine Neoplasia |
|
|
| Hemangioma Of Liver |
|
|
| Collecting Duct Carcinoma |
|
|
| Kidney Cancer |
|
|
| Hepatoblastoma |
|
|
| Tuberous Sclerosis |
|
|
| Multiple Endocrine Neoplasia, Type Iia |
|
|
| Leiomyomatosis |
|
|
| Fumarate Hydratase Deficiency |
|
|
| Pancreatic Serous Cystadenoma |
|
|
| Cystic Kidney Disease |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Neurofibromatosis |
|
|
| Oncocytoma |
|
|
| Neurofibromatosis, Type I |
|
|
| Central Nervous System Hemangioma |
|
|
| Cardiovascular Organ Benign Neoplasm |
|
|
| Thyroid Carcinoma, Familial Medullary |
|
|
| Hemangioma |
|
|
| Middle Ear Adenocarcinoma |
|
|
| Multiple Endocrine Neoplasia, Type I |
|
|
| Hereditary Renal Cell Carcinoma |
|
|
| Lung Cancer |
|
|
| Polycystic Kidney Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | VHL | VGNC | VGNC:97325 |
| Rattus norvegicus | VHL | RGD | RGD:3960 |
| Mus musculus | VHL | MGD | MGI:103223 |
| Others | VHL | NCBI |