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
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 | 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
|
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