Gene
vhll
- ID
- ZDB-GENE-081022-78
- Name
- von Hippel-Lindau tumor suppressor like
- Symbol
- vhll Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Acts upstream of or within DNA repair. Predicted to be located in endoplasmic reticulum and plasma membrane. Predicted to be part of VCB complex. Predicted to be active in nucleus. 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 human VHL (von Hippel-Lindau tumor suppressor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Kim et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
i216 | Allele with one deletion | Unknown | Unknown | zinc finger nuclease |
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No data available
Human Disease
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:B3DHE4 | InterPro | 158 |
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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-6A5 | ZFIN Curated Data | |
Encodes | cDNA | MGC:194223 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001128792 (1) | 523 nt | ||
Genomic | GenBank:BX119963 (1) | 229125 nt | ||
Polypeptide | UniProtKB:B3DHE4 (1) | 158 aa |
No data available
- 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
- Li, J., Ling, Y., Huang, W., Sun, L., Li, Y., Wang, C., Zhang, Y., Wang, X., Dahlgren, R.A., Wang, H. (2018) Regulatory mechanisms of miR-96 and miR-184 abnormal expressions on otic vesicle development of zebrafish following exposure to β-diketone antibiotics. Chemosphere. 214:228-238
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- van Rooijen, E., Voest, E.E., Logister, I., Korving, J., Schwerte, T., Schulte-Merker, S., Giles, R.H., and van Eeden, F.J. (2009) Zebrafish mutants in the von Hippel-Lindau (VHL) tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia. Blood. 113(25):6449-6460
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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