Gene
vps33b
- ID
- ZDB-GENE-050327-73
- Name
- VPS33B late endosome and lysosome associated
- Symbol
- vps33b Nomenclature History
- Previous Names
-
- zgc:110803
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Acts upstream of or within intrahepatic bile duct development. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be part of CORVET complex. Predicted to be active in lysosome. Is expressed in gut; liver; and pancreas. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita; arthrogryposis, renal dysfunction, and cholestasis 1; cholestasis; kidney disease; and progressive familial intrahepatic cholestasis. Orthologous to human VPS33B (VPS33B late endosome and lysosome associated).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Matthews et al., 2005
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Matthews et al., 2005
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa9761 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa12663 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa27045 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31593 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34177 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-vps33b | N/A | (2) |
| MO2-vps33b | N/A | (2) |
| MO3-vps33b | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arthrogryposis, renal dysfunction, and cholestasis 1 | Alliance | Arthrogryposis, renal dysfunction, and cholestasis 1 | 208085 |
| Cholestasis, progressive familial intrahepatic, 12 | 620010 | ||
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | 620009 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR001619 | Sec1-like protein |
| Homologous_superfamily | IPR027482 | Sec1-like, domain 2 |
| Homologous_superfamily | IPR036045 | Sec1-like superfamily |
| Homologous_superfamily | IPR043127 | Sec1-like, domain 3a |
| Homologous_superfamily | IPR043154 | Sec1-like, domain 1 |
| Homologous_superfamily | IPR043155 | Vacuolar protein sorting-associated protein 33, domain 3b |
Domain Details Per Protein
| Protein | Additional Resources | Length | Sec1-like, domain 1 | Sec1-like, domain 2 | Sec1-like, domain 3a | Sec1-like protein | Sec1-like superfamily | Vacuolar protein sorting-associated protein 33, domain 3b |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q58EN8 | InterPro | 617 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
vps33b-201
(1)
|
Ensembl | 2,634 nt | ||
| mRNA |
vps33b-202
(1)
|
Ensembl | 1,899 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-25J19 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:110803 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001014348 (1) | 2665 nt | ||
| Genomic | GenBank:CR382298 (1) | 244811 nt | ||
| Polypeptide | UniProtKB:Q58EN8 (1) | 617 aa |
- 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
- Wilkins, B.J., and Pack, M. (2013) Zebrafish models of human liver development and disease. Comprehensive Physiology. 3(3):1213-1230
- Eauclaire, S.F., Cui, S., Ma, L., Matous, J., Marlow, F.L., Gupta, T., Burgess, H.A., Abrams, E.W., Kapp, L.D., Granato, M., Mullins, M.C., and Matthews, R.P. (2012) Mutations in vacuolar H(+)-ATPase subunits lead to biliary developmental defects in zebrafish. Developmental Biology. 365(2):434-444
- Matthews, R.P., Plumb-Rudewiez, N., Lorent, K., Gissen, P., Johnson, C.A., Lemaigre, F., and Pack, M. (2005) Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6. Development (Cambridge, England). 132(23):5295-5306
- 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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