InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMOC1

Summary

InnateDB Protein

IDBP-10558.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMOC1

Protein Name

SPARC related modular calcium binding 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000355110

InnateDB Gene

IDBG-10556 (SMOC1)

Protein Structure

UniProt Annotation

Function

Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation. {ECO:0000269PubMed:20359165, ECO:0000269PubMed:21194678, ECO:0000269PubMed:21194680}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269PubMed:12130637, ECO:0000269PubMed:20359165}. Note=In or around the basement membrane.

Disease Associations

Ophthalmoacromelic syndrome (OAS) [MIM:206920]: A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases. {ECO:0000269PubMed:21194678, ECO:0000269PubMed:21194680, ECO:0000269PubMed:21750680, ECO:0000269PubMed:23646827}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen. {ECO:0000269PubMed:12130637}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0050840	extracellular matrix binding

Biological Process

GO:0001654	eye development
GO:0007165	signal transduction
GO:0010811	positive regulation of cell-substrate adhesion
GO:0030154	cell differentiation
GO:0030198	extracellular matrix organization
GO:0045667	regulation of osteoblast differentiation
GO:0060173	limb development