SMOC1 Gene Summary [Human]
This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Details
| Type | Processed Transcript |
| Official Symbol | SMOC1 |
| Official Name | SPARC related modular calcium binding 1 [Source:HGNC Symbol;Acc:HGNC:20318] |
| Ensembl ID | ENSG00000198732 |
| Bio databases IDs | |
| Aliases | SPARC related modular calcium binding 1 |
| Synonyms | 2600002F22Rik, OAS, SPARC related modular calcium binding 1, SRG |
| 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 SMOC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EFh_SPARC_EC
- Thyroglobulin_1 repeat associated disordered domain
- TY
- extracellular matrix binding
- protein binding
- KAZAL_FS
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- lung adenocarcinoma
- lung adenocarcinoma formation
- microphthalmia with limb anomalies
- B cell cancer
- atherosclerosis
- hereditary disorder
- plasma cell neoplasm
- mature B-cell neoplasia
- osteoporosis
role in cell
- phosphorylation in
- organization
- differentiation
- aggregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- zona pellucida
- extracellular matrix
- lamina lucida
- basement membrane
- lamina fibroreticularis
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMOC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- eye development
- limb development
- extracellular matrix organization
- cell differentiation
- regulation of osteoblast differentiation
Cellular Component
Where in the cell the gene product is active
- basement membrane
- extracellular space
Molecular Function
What the gene product does at the molecular level
- extracellular matrix binding
- protein binding
- calcium ion binding
- heparin binding