|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:EDS4A
gptkb:PCOL3A
FLJ34534
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:vascular_Ehlers-Danlos_syndrome
gptkb:Ehlers-Danlos_syndrome_type_IV
|
|
gptkbp:discoveredBy
|
gptkb:Richard_Mayne
|
|
gptkbp:discoveredIn
|
1976
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(III)_chain
|
|
gptkbp:Entrez_Gene_ID
|
1281
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skin
circulatory system
|
|
gptkbp:fullName
|
gptkb:collagen_type_III_alpha_1_chain
|
|
gptkbp:function
|
involved in the structure of blood vessels and hollow organs
encodes a fibrillar collagen protein
|
|
gptkbp:gene
|
gptkb:COL3A1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2201
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL3A1
|
|
gptkbp:length
|
1466 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:2q32.2
chromosome 2
|
|
gptkbp:molecularWeight
|
138 kDa
|
|
gptkbp:mutationAssociatedWith
|
arterial rupture
vascular fragility
|
|
gptkbp:OMIM
|
120180
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Col3a1
|
|
gptkbp:pathway
|
extracellular matrix organization
collagen biosynthesis and modifying enzymes
integrin cell surface interactions
|
|
gptkbp:referenceGenome
|
NM_000090
|
|
gptkbp:UniProtID
|
gptkb:P02461
|
|
gptkbp:bfsParent
|
gptkb:EGR1
|
|
gptkbp:bfsLayer
|
6
|