Statements (29)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
gptkb:OI4
Ehlers-Danlos syndrome collagen type I alpha-1 chain |
gptkbp:approvedBy |
gptkb:collagen_type_I_alpha_1_chain
|
gptkbp:approvedSymbol |
gptkb:COL1A1
|
gptkbp:associatedWith |
gptkb:Caffey_disease
gptkb:Dermatosparaxis Ehlers-Danlos syndrome Osteogenesis imperfecta Idiopathic osteoporosis |
gptkbp:Entrez_Gene_ID |
1277
ENSG00000108821 |
gptkbp:function |
encodes the pro-alpha1 chains of type I collagen
major structural component of bone, skin, and connective tissue |
gptkbp:HGNC_ID |
gptkb:HGNC:2192
|
https://www.w3.org/2000/01/rdf-schema#label |
HGNC:2192
|
gptkbp:locatedOnChromosome |
17
|
gptkbp:location |
extracellular matrix
|
gptkbp:locusType |
gptkb:17q21.33
gene with protein product |
gptkbp:OMIM |
120150
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:previousSymbols |
COL1A1A
|
gptkbp:proteinFamily |
collagen family
|
gptkbp:RefSeq |
NM_000088
|
gptkbp:UniProtID |
P02452
|
gptkbp:bfsParent |
gptkb:COL14A1
|
gptkbp:bfsLayer |
7
|