Gene
vhl
- ID
- ZDB-GENE-070112-1042
- Name
- von Hippel-Lindau tumor suppressor
- Symbol
- vhl Nomenclature History
- Previous Names
-
- zgc:158722 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including hemopoiesis; pronephric duct development; and regulation of signal transduction. Predicted to be located in endoplasmic reticulum and plasma membrane. Predicted to be part of VCB complex. Predicted to be active in nucleus. Is expressed in several structures, including lateral mesoderm; liver; nervous system; otic vesicle; and pleuroperitoneal region. Used to study clear cell renal cell carcinoma; familial erythrocytosis 2; and von Hippel-Lindau disease. Human ortholog(s) of this gene implicated in several diseases, including pancreatic cancer (multiple); pheochromocytoma; polycythemia (multiple); renal cell carcinoma; and von Hippel-Lindau disease. Orthologous to several human genes including VHL (von Hippel-Lindau tumor suppressor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 53 figures from 17 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
hu2081 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
hu2117 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
ihb2015001 | Allele with one deletion | Exon 1 | Unknown | TALEN | |
ihb2015002 | Allele with one insertion | Exon 1 | Unknown | TALEN | |
sa40757 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sou13 | Allele with one delins | Exon 1 | Unknown | CRISPR | |
zf3942 | Allele with one delins | Exon 1 | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-vhl | Kim et al., 2020 | |
CRISPR2-vhl | Wu et al., 2021 | |
CRISPR3-vhl | Zhang et al., 2023 | |
MO1-vhl | N/A | (3) |
MO2-vhl | N/A | (4) |
MO3-vhl | N/A | Bonventre et al., 2013 |
TALEN1-vhl | (3) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
familial erythrocytosis 2 | Alliance | Erythrocytosis, familial, 2 | 263400 |
nonpapillary renal cell carcinoma | Alliance | Renal cell carcinoma, somatic | 144700 |
pheochromocytoma | Alliance | Pheochromocytoma | 171300 |
von Hippel-Lindau disease | Alliance | von Hippel-Lindau syndrome | 193300 |
Hemangioblastoma, cerebellar, somatic |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR022772 | von Hippel-Lindau disease tumour suppressor, beta/alpha domain |
Domain | IPR024048 | von Hippel-Lindau disease tumour suppressor, alpha domain |
Domain | IPR024053 | von Hippel-Lindau disease tumour suppressor, beta domain |
Homologous_superfamily | IPR036208 | VHL superfamily |
Homologous_superfamily | IPR037139 | von Hippel-Lindau disease tumour suppressor, alpha domain superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | VHL superfamily | von Hippel-Lindau disease tumour suppressor, alpha domain | von Hippel-Lindau disease tumour suppressor, alpha domain superfamily | von Hippel-Lindau disease tumour suppressor, beta/alpha domain | von Hippel-Lindau disease tumour suppressor, beta domain | von Hippel-Lindau disease tumour suppressor, beta domain superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:A1L296 | InterPro | 175 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-28N18 | ZFIN Curated Data | |
Encodes | cDNA | MGC:158722 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001080684 (1) | 1165 nt | ||
Genomic | GenBank:BX936393 (1) | 204873 nt | ||
Polypeptide | UniProtKB:A1L296 (1) | 175 aa |
- Yue, Y., Tang, Y., Huang, H., Zheng, D., Liu, C., Zhang, H., Liu, Y., Li, Y., Sun, X., Lu, L. (2023) VBP1 negatively regulates CHIP and selectively inhibits the activity of hypoxia-inducible factor (HIF)-1α but not HIF-2α. The Journal of biological chemistry. 299(6):104829
- Zhang, R., Ma, Z., Wang, J., Fan, C. (2023) HIF signaling overactivation inhibits lateral line neuromast development through Wnt in zebrafish. Gene. 898:148077
- Do, T.C., Lau, J.W., Sun, C., Liu, S., Kha, K.T., Lim, S.T., Oon, Y.Y., Kwan, Y.P., Ma, J.J., Mu, Y., Liu, X., Carney, T.J., Wang, X., Xing, B. (2022) Hypoxia deactivates epigenetic feedbacks via enzyme-derived clicking proteolysis-targeting chimeras. Science advances. 8:eabq2216
- Samarasinghe, K.T.G., Jaime-Figueroa, S., Burgess, M., Nalawansha, D.A., Dai, K., Hu, Z., Bebenek, A., Holley, S.A., Crews, C.M. (2021) Targeted degradation of transcription factors by TRAFTACs: TRAnscription Factor TArgeting Chimeras. Cell chemical biology. 28(5):648-661.e5
- Wrighton, P.J., Shwartz, A., Heo, J.M., Quenzer, E.D., LaBella, K.A., Harper, J.W., Goessling, W. (2021) Quantitative intravital imaging reveals in vivo dynamics of physiological-stress induced mitophagy. Journal of Cell Science. 134(4):
- Wu, S., Chen, K., Xu, T., Ma, K., Gao, L., Fu, C., Zhang, W., Jing, C., Ren, C., Deng, M., Chen, Y., Zhou, Y., Pan, W., Jia, X. (2021) Tpr Deficiency Disrupts Erythroid Maturation With Impaired Chromatin Condensation in Zebrafish Embryogenesis. Frontiers in cell and developmental biology. 9:709923
- Fan, S., Wang, J., Yu, G., Rong, F., Zhang, D., Xu, C., Du, J., Li, Z., Ouyang, G., Xiao, W. (2020) TET is targeted for proteasomal degradation by the PHD-pVHL pathway to reduce DNA hydroxymethylation. The Journal of biological chemistry. 295(48):16299-16313
- Kim, H.R., Santhakumar, K., Markham, E., Baldera, D., Greenald, D., Bryant, H.E., El-Khamisy, S.F., van Eeden, F.J. (2020) Investigation of the role of VHL-HIF signaling in DNA repair and apoptosis in zebrafish. Oncotarget. 11:1109-1130
- Klems, A., van Rijssel, J., Ramms, A.S., Wild, R., Hammer, J., Merkel, M., Derenbach, L., Préau, L., Hinkel, R., Suarez-Martinez, I., Schulte-Merker, S., Vidal, R., Sauer, S., Kivelä, R., Alitalo, K., Kupatt, C., van Buul, J.D., le Noble, F. (2020) The GEF Trio controls endothelial cell size and arterial remodeling downstream of Vegf signaling in both zebrafish and cell models. Nature communications. 11:5319
- Lei, Z., Klasson, T.D., Brandt, M.M., van de Hoek, G., Logister, I., Cheng, C., Doevendans, P.A., Sluijter, J.P.G., Giles, R.H. (2020) Control of Angiogenesis via a VHL/miR-212/132 Axis. Cells. 9(4):
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