VPS13B Gene Summary [Human]
This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | VPS13B |
| Official Name | vacuolar protein sorting 13 homolog B [Source:HGNC Symbol;Acc:HGNC:2183] |
| Ensembl ID | ENSG00000132549 |
| Bio databases IDs | |
| Aliases | vacuolar protein sorting 13 homolog B, bridge-like lipid transfer protein family member 5B |
| Synonyms | 1810042B05RIK, 2310042E16RIK, 4732488H20, BLTP5B, C330002D13RIK, CHS1, COH1, Cohh1, D230005K13, KIAA0532, LOC102555534, vacuolar protein sorting 13B, vacuolar protein sorting 13 homolog B |
| 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 VPS13B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Vacuolar-sorting-associated 13 protein C-terminal
- N-terminal region of Chorein or VPS13
- zDHHC ankyrin repeat binding domain
- Autophagy-related protein C terminal domain
- phosphatidylinositol binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- Cohen syndrome
- retinitis pigmentosa
- hereditary disorder
- congenital long QT syndrome
- severe COVID-19
- hippocampal atrophy
- major depression
- microcephaly
- cholelithiasis
regulates
- collagen
role in cell
- apoptosis
- morphology
- formation
- formation in
- assembly
- association
- abnormal morphology
- transformation
- lack
- disruption
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- perinuclear region
- cellular membrane
- Golgi Apparatus
- ER-to-Golgi intermediate compartment
- Golgi membrane
- trans Golgi network
- acrosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VPS13B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acrosome assembly
- lipid transport
- central nervous system development
- vesicle-mediated transport
- neuron projection development
- Golgi organization
- nervous system development
- slow endocytic recycling
- adipose tissue development
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- acrosomal membrane
- Golgi membrane
- recycling endosome membrane
- lysosomal membrane
- endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-3-phosphate binding