Entity Details

Primary name COL27A1
Entity type gene
Source Source Link

Details

PrimaryID85301
RefseqGeneNG_034260
SymbolCOL27A1
Namecollagen type XXVII alpha 1 chain
Chromosome9
Location9q32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-31
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCORA1_HUMAN

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

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

2 interactions

InteractorPartnerSourcesPublicationsLink
COL27A1MCPH1BioGRID29150431 details
COL27A1CUL7BioGRID31343991 details