|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Knobloch_syndrome
gptkb:hereditary_hemorrhagic_telangiectasia
|
|
gptkbp:biologicalProcess
|
structural support in basement membranes
anti-angiogenic activity
|
|
gptkbp:discoveredBy
|
Sasaki et al.
|
|
gptkbp:encodes
|
collagen alpha-1(XVIII) chain
|
|
gptkbp:Entrez_Gene_ID
|
80781
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
gptkb:placenta
eye
liver
|
|
gptkbp:firstDescribed
|
1994
|
|
gptkbp:fullName
|
collagen type XVIII alpha 1 chain
|
|
gptkbp:function
|
structural component of basement membranes
inhibits angiogenesis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariants
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:2196
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL18A1
|
|
gptkbp:length
|
1516 amino acids (canonical isoform)
|
|
gptkbp:locatedOnChromosome
|
chromosome 21
|
|
gptkbp:mutationAssociatedWith
|
retinal detachment
brain malformations
ocular abnormalities
|
|
gptkbp:numberOfExons
|
43
|
|
gptkbp:OMIM
|
120328
|
|
gptkbp:orthologInC.elegans
|
cle-1
|
|
gptkbp:orthologInChicken
|
gptkb:COL18A1
|
|
gptkbp:orthologInDog
|
gptkb:COL18A1
|
|
gptkbp:orthologInFrog
|
col18a1
|
|
gptkbp:orthologInFruitFly
|
CG42594
|
|
gptkbp:orthologInMouse
|
Col18a1
|
|
gptkbp:orthologInZebrafish
|
col18a1a
col18a1b
|
|
gptkbp:postTranslationalModification
|
glycosylation
hydroxylation
|
|
gptkbp:produces
|
endostatin
|
|
gptkbp:proteinFamily
|
collagen family
collagen triple helix repeat
frizzled domain
endostatin domain
endostatin family
thrombospondin N-terminal-like domain
|
|
gptkbp:UniProtID
|
P39060
|
|
gptkbp:bfsParent
|
gptkb:human_chromosome_21
|
|
gptkbp:bfsLayer
|
7
|