|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Stickler_syndrome
gptkb:Marshall_syndrome
gptkb:Otospondylomegaepiphyseal_dysplasia
gptkb:fibrochondrogenesis
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(XI)_chain
|
|
gptkbp:Entrez_Gene_ID
|
1301
|
|
gptkbp:expressedIn
|
eye
collagen
inner ear
|
|
gptkbp:fullName
|
gptkb:collagen_type_XI_alpha_1_chain
|
|
gptkbp:function
|
structural component of extracellular matrix
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:2202
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL11A1
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p21
|
|
gptkbp:mutationAssociatedWith
|
hearing loss
skeletal dysplasia
ocular abnormalities
|
|
gptkbp:OMIM
|
120280
|
|
gptkbp:orthologIn
|
gptkb:meat
gptkb:mouse
gptkb:zebrafish
gptkb:Col11a1_(mouse)
|
|
gptkbp:pathway
|
gptkb:ECM-receptor_interaction
focal adhesion
protein digestion and absorption
|
|
gptkbp:proteinFamily
|
collagen family
|
|
gptkbp:UniProtID
|
P12107
|
|
gptkbp:bfsParent
|
gptkb:EGR1
|
|
gptkbp:bfsLayer
|
6
|