Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:Ehlers-Danlos_syndrome
gptkb:OI4 collagen type I alpha-1 chain |
| gptkbp:approvedBy |
gptkb:collagen_type_I_alpha_1_chain
|
| gptkbp:approvedSymbol |
gptkb:COL1A1
|
| gptkbp:associatedWith |
gptkb:Ehlers-Danlos_syndrome
gptkb:Caffey_disease gptkb:Dermatosparaxis 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
|
| gptkbp:locatedOnChromosome |
17
|
| gptkbp:location |
gptkb: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
|
| https://www.w3.org/2000/01/rdf-schema#label |
HGNC:2192
|