GH1

GPTKB entity

Statements (35)
Predicate Object
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 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
https://www.w3.org/2000/01/rdf-schema#label GH1
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 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 recombinant human growth hormone
gptkbp:bfsParent gptkb:P01266
gptkb:HGH
gptkb:IITK
gptkbp:bfsLayer 6