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 enable extracellular matrix binding activity and heparin binding activity. Acts upstream of or within optic cup morphogenesis involved in camera-type eye development; pectoral fin morphogenesis; and positive regulation of BMP signaling pathway. Predicted to be located in extracellular region. Predicted to be active in basement membrane and extracellular space. Is expressed in brain; head; optic cup; optic vesicle; and pectoral fin. Human ortholog(s) of this gene implicated in microphthalmia with limb anomalies. 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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 505 | |||||||||
| UniProtKB:A0A8M9PNJ3 | InterPro | 503 | |||||||||
| UniProtKB:A0A8M9P007 | InterPro | 514 | |||||||||
| UniProtKB:A0A8M9P8R7 | InterPro | 488 | |||||||||
| UniProtKB:A0A8M9P010 | InterPro | 499 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001201393 (1) | 1386 nt | ||
| Genomic | GenBank:LO018422 (1) | 102821 nt | ||
| Polypeptide | UniProtKB:A0A8M9PKH8 (1) | 516 aa |
- Carey, C.M., Hollins, H.L., Schmid, A.V., Gagnon, J.A. (2024) Distinct features of the regenerating heart uncovered through comparative single-cell profiling. Biology Open. 13(4):
- Cadete, F., Francisco, M., Freitas, R. (2023) Bmp-signaling and the finfold size in zebrafish: implications for the fin-to-limb transition. Evolution; international journal of organic evolution. 77(5):1262-1271
- Mateus, R., Holtzer, L., Seum, C., Hadjivasiliou, Z., Dubois, M., Jülicher, F., Gonzalez-Gaitan, M. (2020) BMP Signaling Gradient Scaling in the Zebrafish Pectoral Fin. Cell Reports. 30:4292-4302.e7
- Holzer, G., Morishita, Y., Fini, J.B., Lorin, T., Gillet, B., Hughes, S., Tohmé, M., Deléage, G., Demeneix, B., Arvan, P., Laudet, V. (2016) Thyroglobulin Represents a Novel Molecular Architecture of Vertebrates. The Journal of biological chemistry. 291(32):16553-66
- Fuller-Carter, P.I., Carter, K.W., Anderson, D., Harvey, A.R., Giles, K.M., Rodger, J. (2015) Integrated analyses of zebrafish miRNA and mRNA expression profiles identify miR-29b and miR-223 as potential regulators of optic nerve regeneration. BMC Genomics. 16:591
- Wang, Y., Yang, L., Zhou, K., Zhang, Y., Song, Z., He, S. (2015) Evidence for adaptation to the Tibetan Plateau inferred from Tibetan loach transcriptomes. Genome biology and evolution. 7(11):2970-82
- Varshney, G.K., Zhang, S., Gildea, D.E., Wolfsberg, T.G., and Burgess, S.M. (2013) The Zebrafish Insertion Collection (ZInC): a web based, searchable collection of zebrafish mutations generated by DNA insertion. Nucleic acids research. 41(D1):D861-864
- Abouzeid, H., Boisset, G., Favez, T., Youssef, M., Marzouk, I., Shakankiry, N., Bayoumi, N., Descombes, P., Agosti, C., Munier, F.L., and Schorderet, D.F. (2011) Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome. American journal of human genetics. 88(1):92-98
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