Gene
smoc1
- ID
- ZDB-GENE-110310-7
- Name
- SPARC related modular calcium binding 1
- Symbol
- smoc1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity and extracellular matrix binding activity. Involved in optic cup morphogenesis involved in camera-type eye development. Human ortholog(s) of this gene implicated in microphthalmia with limb anomalies. Is expressed in brain; head; optic cup; and optic vesicle. Orthologous to human SMOC1 (SPARC related modular calcium binding 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| microphthalmia with limb anomalies | Alliance | Microphthalmia with limb anomalies | 206920 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR000716 | Thyroglobulin type-1 |
| Domain | IPR002350 | Kazal domain |
| Domain | IPR019577 | SPARC/Testican, calcium-binding domain |
| Domain | IPR037639 | SMOC-1, extracellular calcium-binding domain |
| Family | IPR051950 | Developmental regulator and protease inhibitor |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR036058 | Kazal domain superfamily |
| Homologous_superfamily | IPR036857 | Thyroglobulin type-1 superfamily |
Domain Details Per Protein
| Protein | Length | Developmental regulator and protease inhibitor | EF-Hand 1, calcium-binding site | EF-hand domain pair | Kazal domain | Kazal domain superfamily | SMOC-1, extracellular calcium-binding domain | SPARC/Testican, calcium-binding domain | Thyroglobulin type-1 | Thyroglobulin type-1 superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PE18
|
505 | |||||||||
|
UniProtKB:A0A8M9PNJ3
|
503 | |||||||||
|
UniProtKB:A0A8M9P007
|
514 | |||||||||
|
UniProtKB:A0A8M9P8R7
|
488 | |||||||||
|
UniProtKB:A0A8M9P010
|
499 | |||||||||
|
UniProtKB:A0A8M9PNJ7
|
467 | |||||||||
|
UniProtKB:A0A8M9PKH8
|
516 | |||||||||
|
UniProtKB:A0A8M9PE24
|
486 | |||||||||
|
UniProtKB:A0A8M9P8R3
|
505 | |||||||||
|
UniProtKB:A0A8M9PKI3
|
502 | |||||||||
|
UniProtKB:E7EDQ9
|
461 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available