OSTM1 Gene Summary [Human]
This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | OSTM1 |
| Official Name | osteoclastogenesis associated transmembrane protein 1 [Source:HGNC Symbol;Acc:HGNC:21652] |
| Ensembl ID | ENSG00000081087 |
| Bio databases IDs | |
| Aliases | osteoclastogenesis associated transmembrane protein 1, CLCN7 accessory beta subunit, grey-lethal |
| Synonyms | 1200002H13Rik, GIPN, GL, HSPC019, LOC100362414, OPTB5, osteoclastogenesis associated transmembrane protein 1, osteopetrosis associated transmembrane protein 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 OSTM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Osteopetrosis-associated transmembrane protein 1 precursor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive osteopetrosis type 5
- psoriasis
- reactive gliosis
- astigmatism
role in cell
- expression in
- accumulation in
- survival
- accumulation
- maturation
- activation
- quantity
- cell viability
- differentiation
- loss
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
- Plasma Membrane
- cytosol
- lysosome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OSTM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- osteoclast differentiation
- transepithelial chloride transport
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- cytosol
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding