|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:porencephaly
muscular dystrophy
ocular dysgenesis
angiopathy
|
|
gptkbp:biologicalProcess
|
angiogenesis
cell adhesion
extracellular matrix structural constituent
basement membrane organization
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(IV)_chain
|
|
gptkbp:Entrez_Gene_ID
|
12829
ENSMUSG00000023035
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
brain
eye
|
|
gptkbp:fullName
|
collagen, type IV, alpha 1
|
|
gptkbp:function
|
structural component of basement membranes
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Col4a1 (mouse)
|
|
gptkbp:locatedOnChromosome
|
9
|
|
gptkbp:location
|
9 F2
|
|
gptkbp:MGI_ID
|
MGI:88467
|
|
gptkbp:mutationAssociatedWith
|
cerebral hemorrhage
renal defects
ocular anterior segment dysgenesis
skeletal muscle defects
|
|
gptkbp:organism
|
gptkb:Mus_musculus
|
|
gptkbp:orthologIn
|
COL4A1 (human)
|
|
gptkbp:proteinFamily
|
gptkb:collagen_type_IV_family
|
|
gptkbp:UniProtID
|
P02463
|
|
gptkbp:bfsParent
|
gptkb:COL4A1
|
|
gptkbp:bfsLayer
|
7
|