|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
somatotropin
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
dwarfism
growth hormone deficiency
idiopathic short stature
|
|
gptkbp:clinicalTrialPhase
|
gptkb:GH_stimulation_test
|
|
gptkbp:encodes
|
gptkb:recombinant_human_growth_hormone
|
|
gptkbp:Entrez_Gene_ID
|
2688
ENSG00000197405
|
|
gptkbp:expressedIn
|
gptkb:pituitary_gland
|
|
gptkbp:fullName
|
gptkb:growth_hormone_1
|
|
gptkbp:function
|
stimulates growth, cell reproduction, and regeneration
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:4261
|
|
gptkbp:length
|
217 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:17q23.3
|
|
gptkbp:mutationAssociatedWith
|
can cause isolated growth hormone deficiency
|
|
gptkbp:numberOfExons
|
5
|
|
gptkbp:OMIM
|
139250
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Gh
|
|
gptkbp:product
|
gptkb:peptide
contains 2 disulfide bonds
|
|
gptkbp:proteinFamily
|
somatotropin family
somatotropin/prolactin family
|
|
gptkbp:regulates
|
regulated by GHRH and somatostatin
|
|
gptkbp:secretionPattern
|
pulsatile
|
|
gptkbp:UniProtID
|
P01241
|
|
gptkbp:usedInTherapy
|
gptkb:recombinant_human_growth_hormone
|
|
gptkbp:bfsParent
|
gptkb:HGH
gptkb:IITK
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GH1
|