• Gene id: 64093

Gene Summary

• Gene Symbol: SMOC1   Gene   UCSC   Ensembl
• Aliases: OAS
• Gene name: SPARC related modular calcium binding 1
• Alternate names: SPARC-related modular calcium-binding protein 1, secreted modular calcium-binding protein 1,
• Gene location: 14q24.2 (69879387: 70032365)     Exons: 12     NC_000014.9
• Gene summary(Entrez): 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 isof
• OMIM: 618679

Protein Summary

• Protein general information: Q9H4F8  
  • Name: SPARC related modular calcium binding protein 1 (Secreted modular calcium binding protein 1) (SMOC 1)
  • Length: 434  
  • Mass: 48163
  • Tissue specificity: Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen. {ECO
• Sequence:

  MLPARCARLLTPHLLLVLVQLSPARGHRTTGPRFLISDRDPQCNLHCSRTQPKPICASDGRSYESMCEYQRAKCR
  DPTLGVVHRGRCKDAGQSKCRLERAQALEQAKKPQEAVFVPECGEDGSFTQVQCHTYTGYCWCVTPDGKPISGSS
  VQNKTPVCSGSVTDKPLSQGNSGRKDDGSKPTPTMETQPVFDGDEITAPTLWIKHLVIKDSKLNNTNIRNSEKVY
  SCDQERQSALEEAQQNPREGIVIPECAPGGLYKPVQCHQSTGYCWCVLVDTGRPLPGTSTRYVMPSCESDARAKT
  TEADDPFKDRELPGCPEGKKMEFITSLLDALTTDMVQAINSAAPTGGGRFSEPDPSHTLEERVVHWYFSQLDSNS
  SNDINKREMKPFKRYVKKKAKPKKCARRFTDYCDLNKDKVISLPELKGCLGVSKEGRLV

• Structural information:
  • Protein Domains: (37..8-)
    (/note="Kazal-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00798-)
    (92..15-)
    1 (/note="Thyroglobulin-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00500-)
    (224..29-)
    2 (/note="Thyroglobulin-type-1)
    (/evidence="ECO:00-)
  • Interpro: IPR011992  IPR018247  IPR002350  IPR036058  IPR037639   IPR019577  IPR000716  IPR036857  
  • Prosite: PS00018 PS51465 PS00484 PS51162
  • CDD: cd16240 cd00191
  • STRING: ENSP00000355110
• Other Databases: GeneCards:  SMOC1  Malacards:  SMOC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045667	regulation of osteoblast differentiation	IMP	biological process
GO:0060173	limb development	IMP	biological process
GO:0001654	eye development	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0050840	extracellular matrix binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005604	basement membrane	IEA	cellular component

Diseases

Associated diseases	References
Microphthalmia with limb anomalies	KEGG:H02134
Microphthalmia with limb anomalies	KEGG:H02134
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq