|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:collagen_alpha-1(V)_chain
gptkb:collagen_type_V_alpha-1_chain
gptkb:pro-alpha1(V)_collagen_chain
|
|
gptkbp:associatedWith
|
gptkb:Ehlers-Danlos_syndrome,_classical_type
gptkb:Ehlers-Danlos_syndrome,_type_I
gptkb:Ehlers-Danlos_syndrome,_type_II
|
|
gptkbp:discoveredIn
|
1986
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(V)_chain
|
|
gptkbp:Entrez_Gene_ID
|
1289
ENSG00000130635
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
|
gptkbp:fullName
|
gptkb:collagen_type_V_alpha_1_chain
|
|
gptkbp:function
|
forms part of type V collagen fibrils
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:COL5A2
gptkb:COL5A3
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2201
|
|
gptkbp:involvedIn
|
extracellular matrix organization
collagen fibril organization
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
|
|
gptkbp:mutationAssociatedWith
|
gptkb:connective_tissue_disorder
|
|
gptkbp:numberOfExons
|
66
|
|
gptkbp:OMIM
|
120215
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Col5a1
|
|
gptkbp:proteinFamily
|
gptkb:collagen_gene_family
|
|
gptkbp:RefSeq
|
gptkb:NM_000093
gptkb:NP_000084
|
|
gptkbp:UniProtID
|
P20908
|
|
gptkbp:bfsParent
|
gptkb:EGR1
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL5A1
|