SAR1B Gene Summary [Human]
The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | SAR1B |
| Official Name | secretion associated Ras related GTPase 1B [Source:HGNC Symbol;Acc:HGNC:10535] |
| Ensembl ID | ENSG00000152700 |
| Bio databases IDs | |
| Aliases | secretion associated Ras related GTPase 1B |
| Synonyms | 2310075M17RIK, 2900019I22Rik, ANDD, CMRD, GTBPB, SAR1P, SARA1B, SARA2, SARB, secretion associated Ras related GTPase 1B, secretion associated, Ras related GTPase 1B |
| 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 SAR1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sar1p-like members of the Ras-family of small GTPases
- ADP-ribosylation factor family
- small GTP-binding protein domain
- 50S ribosome-binding GTPase
- small monomeric GTPase
- GTPase
- enzyme
- protein binding
- ADP-ribosylation factor
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Anderson disease
- hereditary disorder
- hypocholesterolemia
- acute graft-vs-host disease
- Parkinson disease
role in cell
- expression in
- number
- response by
- synthesis in
- fitness
- beta-oxidation in
- peroxidation in
- tubulation
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
- endoplasmic reticulum mitochondria contact site
- cellular membrane
- vesicles
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- Golgi stacks
- lysosome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SAR1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane organization
- lipid homeostasis
- cargo loading into COPII-coated vesicle
- intracellular protein transport
- antigen processing and presentation of peptide antigen via MHC class I
- COPII vesicle coating
- lipoprotein transport
- regulation of COPII vesicle coating
- ER to Golgi vesicle-mediated transport
- vesicle organization
- positive regulation of protein exit from endoplasmic reticulum
- regulation of lipid transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Golgi cisterna membrane
- ER to Golgi transport vesicle membrane
- cytosol
- endoplasmic reticulum exit site
- lysosomal membrane
- COPII vesicle coat
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- metal ion binding
- GTPase activity
- small monomeric GTPase activity