GHITM Gene Summary [Human]
Involved in inner mitochondrial membrane organization and negative regulation of release of cytochrome c from mitochondria. Located in mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | GHITM |
| Official Name | growth hormone inducible transmembrane protein [Source:HGNC Symbol;Acc:HGNC:17281] |
| Ensembl ID | ENSG00000165678 |
| Bio databases IDs | |
| Aliases | growth hormone inducible transmembrane protein, transmembrane BAX inhibitor motif containing 5 |
| Synonyms | 1010001P14Rik,BAE30441,Clone 42,DERP2,Growth hormone-inducible transmembrane,growth hormone inducible transmembrane protein,HSPC282,MICS1,My021,PTD010,TMBIM5 |
| Species | Human, Homo sapiens |
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 GHITM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Inhibitor of apoptosis-promoting Bax1
- BAX inhibitor (BI)-1/YccA-like protein family
- calcium:hydrogen antiporter
- protein 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
- Huntington disease
role in cell
- disorganization
- morphology
- disorganization in
- organization
- fragmentation in
- aggregation in
- aggregation
- transport in
- mitochondrial respiration in
- fragmentation
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
- cellular membrane
- Mitochondria
- endoplasmic reticulum membrane
- mitochondrial membrane
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GHITM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of release of cytochrome c from mitochondria
- apoptotic process
- calcium ion transport
- inner mitochondrial membrane organization
- mitochondrial calcium ion transport
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium:hydrogen antiporter activity