HGNC:2192

GPTKB entity

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