VIPAS39 Gene Summary [Human]
Involved in endosome to lysosome transport and intracellular protein transport. Acts upstream of or within collagen metabolic process and peptidyl-lysine hydroxylation. Located in Golgi apparatus and endosome. Implicated in arthrogryposis, renal dysfunction, and cholestasis 2. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | VIPAS39 |
| Official Name | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog [Source:HGNC Symbol;Acc:HGNC:20347] |
| Ensembl ID | ENSG00000151445 |
| Bio databases IDs | |
| Aliases | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog, VPS33B interacting protein, apical-basolateral polarity regulator, Spermatogenesis-defective protein 39 homolog |
| Synonyms | 6720456H09RIK, 9330175H22RIK, C14orf133, hSPE-39, SPE-39, VIPAR, VPS16B, VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human VIPAS39 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- arthrogryposis, renal dysfunction, and cholestasis type 2
- arthrogryposis, renal dysfunction, cholestasis
- arthrogryposis, renal dysfunction, and cholestasis type 1
regulated by
- L-glutamic acid
- RABGEF1
- phycocyanobilin
role in cell
- integrity
- organization
- appearance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- endosomes
- Golgi Apparatus
- trans Golgi network
- alpha granules
- recycling endosomes
- early endosomes
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VIPAS39 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- intracellular transport
- spermatogenesis
- peptidyl-lysine hydroxylation
- cell differentiation
- phagosome-lysosome fusion
- vacuolar transport
- endosome to lysosome transport
- collagen fibril organization
- intracellular protein transport
- post-translational protein modification
- collagen metabolic process
Cellular Component
Where in the cell the gene product is active
- early endosome
- endosome
- cytoplasm
- late endosome
- Golgi apparatus
- recycling endosome
- HOPS complex
Molecular Function
What the gene product does at the molecular level
- protein binding