|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Bethlem_myopathy
gptkb:Ullrich_congenital_muscular_dystrophy
|
|
gptkbp:biologicalProcess
|
cell adhesion
skeletal muscle development
collagen binding
|
|
gptkbp:discoveredIn
|
1988
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(VI)_chain
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000142173
1291
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
|
gptkbp:fullName
|
gptkb:collagen_type_VI_alpha_1_chain
|
|
gptkbp:function
|
extracellular matrix structural constituent
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:COL6A2
gptkb:COL6A3
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2211
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL6A1
|
|
gptkbp:length
|
1028 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 21
|
|
gptkbp:mutationAssociatedWith
|
muscle weakness
joint contractures
|
|
gptkbp:numberOfExons
|
35
|
|
gptkbp:OMIM
|
120220
|
|
gptkbp:orthologInMouse
|
gptkb:Col6a1
|
|
gptkbp:pathway
|
gptkb:ECM-receptor_interaction
gptkb:PI3K-Akt_signaling_pathway
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:subcellularLocation
|
extracellular space
|
|
gptkbp:UniProtID
|
P12109
|
|
gptkbp:bfsParent
|
gptkb:EGR1
|
|
gptkbp:bfsLayer
|
6
|