|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:collagen_alpha-1(I)_chain
gptkb:OI4
gptkb:collagen_type_I_alpha_chain
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Caffey_disease
gptkb:idiopathic_osteoporosis
Ehlers-Danlos syndrome
osteogenesis imperfecta
dermatosparaxis
|
|
gptkbp:biologicalProcess
|
wound healing
skeletal system development
collagen fibril organization
extracellular matrix structural constituent
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
multiple researchers
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(I)_chain
|
|
gptkbp:Entrez_Gene_ID
|
1277
ENSG00000108821
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
|
gptkbp:firstDescribed
|
1970s
|
|
gptkbp:fullName
|
gptkb:collagen_type_I_alpha_1_chain
|
|
gptkbp:function
|
structural component of extracellular matrix
|
|
gptkbp:gene
|
gptkb:COL1A1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2197
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL1A1
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:length
|
1464 amino acids
over 18 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
|
|
gptkbp:mutationAssociatedWith
|
dominant negative effect
haploinsufficiency
|
|
gptkbp:numberOfExons
|
52
|
|
gptkbp:OMIM
|
120150
|
|
gptkbp:orthologInMouse
|
gptkb:Col1a1
|
|
gptkbp:pathway
|
collagen biosynthesis
extracellular matrix organization
fibrillogenesis
|
|
gptkbp:postTranslationalModification
|
glycosylation
hydroxylation
|
|
gptkbp:product
|
triple helix
|
|
gptkbp:proteinAbundance
|
high in bone, skin, tendon
|
|
gptkbp:proteinFamily
|
collagen family
collagen triple helix repeat
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:subcellularLocation
|
extracellular region
|
|
gptkbp:UniProtID
|
P02452
|
|
gptkbp:bfsParent
|
gptkb:EGR1
gptkb:chromosome_17
|
|
gptkbp:bfsLayer
|
6
|