collagen type VII alpha 1 chain
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:collagen_alpha-1(VII)_chain
COL7A1 protein |
| gptkbp:component |
anchoring fibrils
|
| gptkbp:discoveredBy |
1992
|
| gptkbp:Entrez_Gene_ID |
1294
|
| gptkbp:expressedIn |
gptkb:skin
mucous membranes |
| gptkbp:foundIn |
humans
other mammals |
| gptkbp:function |
structural support
|
| gptkbp:gene |
gptkb:COL7A1
|
| gptkbp:locatedIn |
basement membrane
|
| gptkbp:locatedOnChromosome |
3p21.31
|
| gptkbp:molecularWeight |
~290 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:dystrophic_epidermolysis_bullosa
|
| gptkbp:OMIM |
120120
|
| gptkbp:subunit |
collagen VII
|
| gptkbp:UniProtID |
gptkb:Q02388
|
| gptkbp:bfsParent |
gptkb:COL7A1
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
collagen type VII alpha 1 chain
|