Entity Details

Primary name SMOC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H4F8
EntryNameSMOC1_HUMAN
FullNameSPARC-related modular calcium-binding protein 1
TaxID9606
Evidenceevidence at protein level
Length434
SequenceStatuscomplete
DateCreated2003-10-31
DateModified2021-06-02

Ontological Relatives

GenesSMOC1

GO terms

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GOName
GO:0001654 eye development
GO:0005509 calcium ion binding
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0008201 heparin binding
GO:0030154 cell differentiation
GO:0030198 extracellular matrix organization
GO:0045667 regulation of osteoblast differentiation
GO:0050840 extracellular matrix binding
GO:0060173 limb development

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000716 Thyroglobulin type-1DomainDomain
IPR002350 Kazal domainDomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR018247 EF-Hand 1, calcium-binding siteSiteBinding site
IPR019577 SPARC/Testican, calcium-binding domainDomainDomain
IPR036058 Kazal domain superfamilyFamilyHomologous superfamily
IPR036857 Thyroglobulin type-1 superfamilyFamilyHomologous superfamily
IPR037639 SMOC-1, extracellular calcium-binding domainDomainDomain

Diseases

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Disease IDSourceNameDescription
206920 OMIMOphthalmoacromelic syndrome (OAS)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. The disease is caused by variants affecting the gene represented in this entry.