|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:collagen_alpha-1(I)_chain
gptkb:OI4
gptkb:Ehlers-Danlos_syndrome_type_I
collagen of skin, bone, tendon, ligament, cornea, and vessel walls
collagen type I alpha-1 chain
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Caffey_disease
Ehlers-Danlos syndrome
Osteogenesis imperfecta
Idiopathic osteoporosis
|
|
gptkbp:biologicalProcess
|
extracellular matrix organization
collagen fibril organization
structural constituent of extracellular matrix
|
|
gptkbp:cellularComponent
|
extracellular region
collagen trimer
|
|
gptkbp:dbXref
|
gptkb:HGNC:2197
Ensembl:ENSG00000108821
GeneCards:COL1A1
NCBI Gene:1301
OMIM:120150
RefSeq:NM_000088
UniProt:P02452
|
|
gptkbp:Entrez_Gene_ID
|
ENSG00000108821
|
|
gptkbp:fullName
|
gptkb:collagen_type_I_alpha_1_chain
|
|
gptkbp:function
|
encodes the pro-alpha1 chains of type I collagen
|
|
gptkbp:gene
|
gptkb:COL1A1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2197
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Entrez Gene:1301
|
|
gptkbp:locatedOnChromosome
|
17
|
|
gptkbp:location
|
gptkb:17q21.33
|
|
gptkbp:numberOfExons
|
52
|
|
gptkbp:OMIM
|
120150
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Col1a1
rat Col1a1
zebrafish col1a1a
zebrafish col1a1b
|
|
gptkbp:pathway
|
gptkb:ECM-receptor_interaction
gptkb:Focal_adhesion
gptkb:PI3K-Akt_signaling_pathway
|
|
gptkbp:product
|
gptkb:collagen_alpha-1(I)_chain
|
|
gptkbp:RefSeq
|
NM_000088
|
|
gptkbp:UniProtID
|
P02452
|
|
gptkbp:bfsParent
|
gptkb:e1301
|
|
gptkbp:bfsLayer
|
7
|