Entity Details

Primary name CORA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IZC6
EntryNameCORA1_HUMAN
FullNameCollagen alpha-1(XXVII) chain
TaxID9606
Evidenceevidence at transcript level
Length1860
SequenceStatuscomplete
DateCreated2008-01-15
DateModified2021-06-02

Ontological Relatives

GenesCOL27A1

GO terms

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GOName
GO:0003431 growth plate cartilage chondrocyte development
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005583 fibrillar collagen trimer
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0031012 extracellular matrix
GO:0046872 metal ion binding
GO:0062023 collagen-containing extracellular matrix

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000885 Fibrillar collagen, C-terminalDomainDomain
IPR001791 Laminin G domainDomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat
IPR013320 Concanavalin A-like lectin/glucanase domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615155 OMIMSteel syndrome (STLS)A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval-shaped face, hypertelorism and broad nasal bridge. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
CORA1_HUMANMCPH1_HUMANBioGRID29150431 details