|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Caffey_disease
gptkb:idiopathic_osteoporosis
Ehlers-Danlos syndrome
osteogenesis imperfecta
|
|
gptkbp:biologicalProcess
|
forms type I collagen fibrils
provides tensile strength to tissues
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Ehlers-Danlos syndrome
genetic testing for osteogenesis imperfecta
|
|
gptkbp:discoveredBy
|
Sykes et al.
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(I)_chain
|
|
gptkbp:Entrez_Gene_ID
|
1277
ENSG00000108821
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
development
adulthood
|
|
gptkbp:firstDescribed
|
1980s
|
|
gptkbp:fullName
|
gptkb:collagen_type_I_alpha_1_chain
|
|
gptkbp:function
|
collagen biosynthesis
structural component of extracellular matrix
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2197
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL1A1 gene
|
|
gptkbp:interactsWith
|
gptkb:integrins
gptkb:COL1A2_protein
gptkb:fibronectin
|
|
gptkbp:length
|
1464 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
gptkb:17q21.33
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
duplication
hearing loss
splice-site
blue sclerae
bone fragility
|
|
gptkbp:OMIM
|
120150
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Col1a1
|
|
gptkbp:pathway
|
gptkb:PI3K-Akt_signaling_pathway
extracellular matrix organization
focal adhesion
collagen biosynthesis and modifying enzymes
|
|
gptkbp:product
|
triple helix
|
|
gptkbp:proteinFamily
|
gptkb:von_Willebrand_factor_type_C_domain
collagen family
collagen triple helix repeat
|
|
gptkbp:RefSeq
|
NM_000088
NP_000079
|
|
gptkbp:UniProtID
|
P02452
|
|
gptkbp:bfsParent
|
gptkb:Ehlers-Danlos_syndrome
gptkb:collagen
|
|
gptkbp:bfsLayer
|
6
|