Entity Details

Primary name COHA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UMD9
EntryNameCOHA1_HUMAN
FullNameCollagen alpha-1(XVII) chain
TaxID9606
Evidenceevidence at protein level
Length1497
SequenceStatuscomplete
DateCreated2004-02-02
DateModified2021-06-02

Ontological Relatives

GenesCOL17A1

GO terms

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GOName
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0007160 cell-matrix adhesion
GO:0008544 epidermis development
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030056 hemidesmosome
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0031012 extracellular matrix
GO:0031581 hemidesmosome assembly
GO:0050776 regulation of immune response
GO:0062023 collagen-containing extracellular matrix

Subcellular Location

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Subcellular Location
Cell junction
Membrane
Secreted

Domains

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DomainNameCategoryType
IPR008160 Collagen triple helix repeatRepeatRepeat

Diseases

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Disease IDSourceNameDescription
226650 OMIMGeneralized atrophic benign epidermolysis bullosa (GABEB)A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. The disease is caused by variants affecting the gene represented in this entry.
122400 OMIMEpithelial recurrent erosion dystrophy (ERED)A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. The disease is caused by variants affecting the gene represented in this entry.