ENSG00000121853


Homo sapiens

Features
Gene ID: ENSG00000121853
  
Biological name :GHSR
  
Synonyms : GHSR / growth hormone secretagogue receptor / Q92847
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q26.31
Gene start: 172445133
Gene end: 172448456
  
Corresponding Affymetrix probe sets: 221360_s_at (Human Genome U133 Plus 2.0 Array)   224554_at (Human Genome U133 Plus 2.0 Array)   237101_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000241256
Ensembl peptide - ENSP00000395344
NCBI entrez gene - 2693     See in Manteia.
OMIM - 601898
RefSeq - NM_004122
RefSeq - NM_198407
RefSeq Peptide - NP_004113
RefSeq Peptide - NP_940799
swissprot - Q92847
Ensembl - ENSG00000121853
  
Related genetic diseases (OMIM): 615925 - Growth hormone deficiency, isolated partial, 615925
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ghsrbENSDARG00000057117Danio rerio
 GHSRENSGALG00000027947Gallus gallus
 GhsrENSMUSG00000051136Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MLNR / O43193 / motilin receptorENSG0000010253950
NMUR1 / Q9HB89 / neuromedin U receptor 1ENSG0000017159632
NTSR1 / P30989 / neurotensin receptor 1ENSG0000010118830
NMUR2 / Q9GZQ4 / neuromedin U receptor 2ENSG0000013291127
NTSR2 / O95665 / neurotensin receptor 2ENSG0000016900625
TRHR / P34981 / thyrotropin releasing hormone receptorENSG0000017441725
GPR39 / O43194 / G protein-coupled receptor 39ENSG0000018384021


Protein motifs (from Interpro)
Interpro ID Name
 IPR000276  G protein-coupled receptor, rhodopsin-like
 IPR003905  Growth hormone secretagogue receptor type 1
 IPR017452  GPCR, rhodopsin-like, 7TM


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IDA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0007611 learning or memory IEA
 biological_processGO:0008154 actin polymerization or depolymerization IDA
 biological_processGO:0008343 adult feeding behavior ISS
 biological_processGO:0009725 response to hormone IDA
 biological_processGO:0009755 hormone-mediated signaling pathway IDA
 biological_processGO:0010700 negative regulation of norepinephrine secretion IEA
 biological_processGO:0030252 growth hormone secretion TAS
 biological_processGO:0032094 response to food IEA
 biological_processGO:0032099 negative regulation of appetite IEA
 biological_processGO:0032100 positive regulation of appetite ISS
 biological_processGO:0032354 response to follicle-stimulating hormone IEA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0032691 negative regulation of interleukin-1 beta production IDA
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0036321 ghrelin secretion IEA
 biological_processGO:0040018 positive regulation of multicellular organism growth IMP
 biological_processGO:0042536 negative regulation of tumor necrosis factor biosynthetic process IDA
 biological_processGO:0043134 regulation of hindgut contraction IEA
 biological_processGO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway IEA
 biological_processGO:0045409 negative regulation of interleukin-6 biosynthetic process IDA
 biological_processGO:0045923 positive regulation of fatty acid metabolic process IEA
 biological_processGO:0045927 positive regulation of growth IEA
 biological_processGO:0046676 negative regulation of insulin secretion IEA
 biological_processGO:0046697 decidualization IDA
 biological_processGO:0050728 negative regulation of inflammatory response IDA
 biological_processGO:0051963 regulation of synapse assembly IEA
 biological_processGO:0051969 regulation of transmission of nerve impulse IEA
 biological_processGO:0060123 regulation of growth hormone secretion IEA
 biological_processGO:0060259 regulation of feeding behavior IEA
 biological_processGO:0060416 response to growth hormone IEA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071548 response to dexamethasone IEA
 biological_processGO:0090327 negative regulation of locomotion involved in locomotory behavior IEA
 biological_processGO:0097067 cellular response to thyroid hormone stimulus IEA
 biological_processGO:0120058 positive regulation of small intestinal transit IEA
 biological_processGO:1903672 positive regulation of sprouting angiogenesis IEA
 biological_processGO:1904000 positive regulation of eating behavior IEA
 biological_processGO:1904008 response to monosodium glutamate IEA
 biological_processGO:1904349 positive regulation of small intestine smooth muscle contraction IEA
 biological_processGO:1904468 negative regulation of tumor necrosis factor secretion IEA
 biological_processGO:1905333 regulation of gastric motility IEA
 biological_processGO:1905564 positive regulation of vascular endothelial cell proliferation IEA
 biological_processGO:1990314 cellular response to insulin-like growth factor stimulus IEA
 biological_processGO:2000110 negative regulation of macrophage apoptotic process IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043005 neuron projection IDA
 cellular_componentGO:0045121 membrane raft IDA
 molecular_functionGO:0001616 growth hormone secretagogue receptor activity IDA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IDA
 molecular_functionGO:0016520 growth hormone-releasing hormone receptor activity IDA
 molecular_functionGO:0017046 peptide hormone binding IEA
 molecular_functionGO:0042562 hormone binding IEA


Pathways (from Reactome)
Pathway description
Peptide ligand-binding receptors
G alpha (q) signalling events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000823 Delayed puberty 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0001946 Ketosis 
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 HP:0002013 Vomiting 
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 HP:0002027 Abdominal pain 
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004325 Decreased body weight 
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 HP:0030353 Decreased serum insulin-like growth factor 1 "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000157017 GHRL / Q9UBU3 / ghrelin and obestatin prepropeptide  / reaction / complex






 

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