|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:hereditary_angiopathy_with_nephropathy,_aneurysms,_and_muscle_cramps_(HANAC)_syndrome
gptkb:porencephaly
cerebral hemorrhage
small vessel disease
|
|
gptkbp:biologicalProcess
|
extracellular matrix structural constituent
|
|
gptkbp:discoveredIn
|
1986
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(IV)_chain
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000187498
1282
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
brain
eye
|
|
gptkbp:fullName
|
gptkb:collagen_type_IV_alpha_1_chain
|
|
gptkbp:function
|
structural component of basement membranes
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:COL4A2
|
|
gptkbp:HGNC_ID
|
2202
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL4A1
|
|
gptkbp:length
|
1669 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_13
|
|
gptkbp:mutationAssociatedWith
|
vascular fragility
ocular dysgenesis
renal defects
|
|
gptkbp:OMIM
|
120130
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Col4a1_(mouse)
|
|
gptkbp:proteinFamily
|
collagen family
|
|
gptkbp:UniProtID
|
gptkb:P02462
|
|
gptkbp:bfsParent
|
gptkb:EGR1
|
|
gptkbp:bfsLayer
|
6
|