|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:dystrophic_epidermolysis_bullosa
gptkb:epidermolysis_bullosa_acquisita
|
|
gptkbp:discoveredBy
|
gptkb:John_Uitto
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(VII)_chain
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000114270
1294
|
|
gptkbp:expressedIn
|
gptkb:skin
mucous membranes
|
|
gptkbp:fullName
|
gptkb:collagen_type_VII_alpha_1_chain
|
|
gptkbp:function
|
forms anchoring fibrils in basement membrane
|
|
gptkbp:gene
|
gptkb:COL7A1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2200
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL7A1
|
|
gptkbp:length
|
2944 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p21.31
|
|
gptkbp:mutationAssociatedWith
|
skin blistering
|
|
gptkbp:OMIM
|
120120
|
|
gptkbp:orthologInMouse
|
gptkb:Col7a1
|
|
gptkbp:pathway
|
extracellular matrix organization
collagen formation
|
|
gptkbp:proteinFamily
|
collagen family
|
|
gptkbp:UniProtID
|
gptkb:Q02388
|
|
gptkbp:bfsParent
|
gptkb:EGR1
|
|
gptkbp:bfsLayer
|
6
|