|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:IR
gptkb:CD220
gptkb:HHF5
gptkb:INSRR
insulin receptor precursor
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Donohue_syndrome
gptkb:Rabson-Mendenhall_syndrome
gptkb:type_2_diabetes_mellitus
insulin resistance
|
|
gptkbp:biologicalProcess
|
gptkb:receptor_tyrosine_kinase
cell growth
glucose homeostasis
protein tyrosine kinase activity
insulin binding
mediates insulin signaling
metabolic regulation
|
|
gptkbp:discoveredBy
|
gptkb:Ora_Rosen
|
|
gptkbp:discoveredIn
|
1971
|
|
gptkbp:encodes
|
gptkb:insulin_receptor
|
|
gptkbp:Entrez_Gene_ID
|
3643
ENSG00000171105
|
|
gptkbp:fullName
|
gptkb:insulin_receptor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:HGNC_ID
|
HGNC:6091
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
INSR
|
|
gptkbp:locatedOnChromosome
|
gptkb:19p13.2
19
|
|
gptkbp:mutationAssociatedWith
|
growth retardation
hyperinsulinemia
severe insulin resistance
|
|
gptkbp:numberOfExons
|
22
|
|
gptkbp:OMIM
|
147670
|
|
gptkbp:orthologInMouse
|
gptkb:Insr
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
gptkb:insulin
growth factors
|
|
gptkbp:subcellularLocation
|
gptkb:plasma_membrane
|
|
gptkbp:subunit
|
heterotetramer (2 alpha, 2 beta chains)
|
|
gptkbp:tissue_specificity
|
gptkb:skeletal_muscle
brain
liver
adipose tissue
|
|
gptkbp:UniProtID
|
P06213
|
|
gptkbp:bfsParent
|
gptkb:chromosome_19
|
|
gptkbp:bfsLayer
|
6
|