TMBIM1 Gene Summary [Human]
Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi apparatus; endosome membrane; and lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TMBIM1 |
| Official Name | transmembrane BAX inhibitor motif containing 1 [Source:HGNC Symbol;Acc:HGNC:23410] |
| Ensembl ID | ENSG00000135926 |
| Bio databases IDs | |
| Aliases | transmembrane BAX inhibitor motif containing 1 |
| Synonyms | 2310061B02Rik, LFG3, mKIAA4161, MST100, MSTP100, PP1201, RECS1, Tmbib1, transmembrane BAX inhibitor motif containing 1 |
| 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 TMBIM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- death receptor binding
- Inhibitor of apoptosis-promoting Bax1
- BAX inhibitor (BI)-1/YccA-like protein family
- 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
- COVID-19
- colorectal cancer
- cardiac damage
- gallstone
- cystic medial degeneration
- cardiovascular disorder
- Moyamoya disease
role in cell
- production in
- transmembrane potential
- differentiation
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
- intracellular membrane-bounded organelle
- cellular membrane
- Plasma Membrane
- Golgi Apparatus
- specific granule membrane
- Golgi membrane
- lysosome membrane
- endosomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMBIM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of catalytic activity
- positive regulation of blood vessel remodeling
- negative regulation of apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- membrane
- endoplasmic reticulum
- endosome membrane
- Golgi apparatus
- plasma membrane
- lysosomal membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- death receptor binding