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Protein

Growth hormone secretagogue receptor type 1

Gene

GHSR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine).2 Publications

GO - Molecular functioni

  • G-protein coupled receptor activity Source: HGNC
  • growth hormone-releasing hormone receptor activity Source: HGNC
  • growth hormone secretagogue receptor activity Source: HGNC
  • peptide hormone binding Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
SIGNORiQ92847

Protein family/group databases

TCDBi9.A.14.1.6 the g-protein-coupled receptor (gpcr) family

Names & Taxonomyi

Protein namesi
Recommended name:
Growth hormone secretagogue receptor type 1
Short name:
GHS-R
Alternative name(s):
GH-releasing peptide receptor
Short name:
GHRP
Ghrelin receptor
Gene namesi
Name:GHSR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000121853.3
HGNCiHGNC:4267 GHSR
MIMi601898 gene
neXtProtiNX_Q92847

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 40ExtracellularSequence analysisAdd BLAST40
Transmembranei41 – 66Helical; Name=1Sequence analysisAdd BLAST26
Topological domaini67 – 72CytoplasmicSequence analysis6
Transmembranei73 – 96Helical; Name=2Sequence analysisAdd BLAST24
Topological domaini97 – 117ExtracellularSequence analysisAdd BLAST21
Transmembranei118 – 139Helical; Name=3Sequence analysisAdd BLAST22
Topological domaini140 – 162CytoplasmicSequence analysisAdd BLAST23
Transmembranei163 – 183Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini184 – 211ExtracellularSequence analysisAdd BLAST28
Transmembranei212 – 235Helical; Name=5Sequence analysisAdd BLAST24
Topological domaini236 – 263CytoplasmicSequence analysisAdd BLAST28
Transmembranei264 – 285Helical; Name=6Sequence analysisAdd BLAST22
Topological domaini286 – 302ExtracellularSequence analysisAdd BLAST17
Transmembranei303 – 326Helical; Name=7Sequence analysisAdd BLAST24
Topological domaini327 – 366CytoplasmicSequence analysisAdd BLAST40

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Growth hormone deficiency, isolated partial (GHDP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by partial growth hormone deficiency resulting in growth delay and short stature, sometimes associated with recurrent episodes of abdominal pain, vomiting, ketosis and hypoglycemia.
See also OMIM:615925
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032705204A → E in GHDP; affects cell-surface expression; impairs constitutive activity; does not affect the ability to respond to ghrelin. 1 PublicationCorresponds to variant dbSNP:rs121917883EnsemblClinVar.1
Natural variantiVAR_073173237R → W in GHDP; results in partial loss of constitutive activity of the receptor; does not affect response to ghrelin; does not affects receptor cell-surface expression. 1 PublicationCorresponds to variant dbSNP:rs199588904EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi2693
MalaCardsiGHSR
MIMi615925 phenotype
OpenTargetsiENSG00000121853
Orphaneti314811 Short stature due to GHSR deficiency
PharmGKBiPA28677

Chemistry databases

ChEMBLiCHEMBL4616
DrugBankiDB05657 TZP-101
GuidetoPHARMACOLOGYi246

Polymorphism and mutation databases

BioMutaiGHSR
DMDMi2494998

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000694791 – 366Growth hormone secretagogue receptor type 1Add BLAST366

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi13N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi27N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi116 ↔ 198PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ92847
PeptideAtlasiQ92847
PRIDEiQ92847
ProteomicsDBi75541
75542 [Q92847-2]

PTM databases

iPTMnetiQ92847

Expressioni

Tissue specificityi

Pituitary and hypothalamus.

Gene expression databases

BgeeiENSG00000121853
CleanExiHS_GHSR
GenevisibleiQ92847 HS

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000241256

Chemistry databases

BindingDBiQ92847

Structurei

3D structure databases

ProteinModelPortaliQ92847
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3656 Eukaryota
ENOG410XRW9 LUCA
GeneTreeiENSGT00700000104070
HOGENOMiHOG000272571
HOVERGENiHBG006538
InParanoidiQ92847
KOiK04284
OMAiSCTYSTI
OrthoDBiEOG091G09KB
PhylomeDBiQ92847
TreeFamiTF332184

Family and domain databases

CDDicd15131 7tmA_GHSR, 1 hit
InterProiView protein in InterPro
IPR039129 7tmA_GHSR
IPR003905 GHS-R/MTLR
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
PANTHERiPTHR24243:SF7 PTHR24243:SF7, 1 hit
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PRINTSiPR01417 GHSRECEPTOR
PR00237 GPCRRHODOPSN
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1A (identifier: Q92847-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWNATPSEEP GFNLTLADLD WDASPGNDSL GDELLQLFPA PLLAGVTATC
60 70 80 90 100
VALFVVGIAG NLLTMLVVSR FRELRTTTNL YLSSMAFSDL LIFLCMPLDL
110 120 130 140 150
VRLWQYRPWN FGDLLCKLFQ FVSESCTYAT VLTITALSVE RYFAICFPLR
160 170 180 190 200
AKVVVTKGRV KLVIFVIWAV AFCSAGPIFV LVGVEHENGT DPWDTNECRP
210 220 230 240 250
TEFAVRSGLL TVMVWVSSIF FFLPVFCLTV LYSLIGRKLW RRRRGDAVVG
260 270 280 290 300
ASLRDQNHKQ TVKMLAVVVF AFILCWLPFH VGRYLFSKSF EPGSLEIAQI
310 320 330 340 350
SQYCNLVSFV LFYLSAAINP ILYNIMSKKY RVAVFRLLGF EPFSQRKLST
360
LKDESSRAWT ESSINT
Length:366
Mass (Da):41,329
Last modified:February 1, 1997 - v1
Checksum:iD1B62710DA9DC0C6
GO
Isoform 1B (identifier: Q92847-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     266-289: AVVVFAFILCWLPFHVGRYLFSKS → GGSQRALRLSLAGPILSLCLLPSL
     290-366: Missing.

Show »
Length:289
Mass (Da):32,153
Checksum:i8032FDB4C6BDD42B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0493895T → I. Corresponds to variant dbSNP:rs2232165Ensembl.1
Natural variantiVAR_032705204A → E in GHDP; affects cell-surface expression; impairs constitutive activity; does not affect the ability to respond to ghrelin. 1 PublicationCorresponds to variant dbSNP:rs121917883EnsemblClinVar.1
Natural variantiVAR_073173237R → W in GHDP; results in partial loss of constitutive activity of the receptor; does not affect response to ghrelin; does not affects receptor cell-surface expression. 1 PublicationCorresponds to variant dbSNP:rs199588904EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001916266 – 289AVVVF…LFSKS → GGSQRALRLSLAGPILSLCL LPSL in isoform 1B. 3 PublicationsAdd BLAST24
Alternative sequenceiVSP_001917290 – 366Missing in isoform 1B. 3 PublicationsAdd BLAST77

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60179 mRNA Translation: AAC50653.1
U60181 mRNA Translation: AAC50654.1
AF369786 Genomic DNA Translation: AAK71539.1
AF369786 Genomic DNA Translation: AAK71540.1
AY429112 mRNA Translation: AAR07907.1
AY322544 Genomic DNA Translation: AAP84357.1
CH471052 Genomic DNA Translation: EAW78468.1
BC069068 mRNA Translation: AAH69068.1
BC069374 mRNA Translation: AAH69374.1
BC113547 mRNA Translation: AAI13548.1
CCDSiCCDS3218.1 [Q92847-1]
CCDS46959.1 [Q92847-2]
RefSeqiNP_004113.1, NM_004122.2 [Q92847-2]
NP_940799.1, NM_198407.2 [Q92847-1]
UniGeneiHs.130212

Genome annotation databases

EnsembliENST00000241256; ENSP00000241256; ENSG00000121853 [Q92847-1]
ENST00000427970; ENSP00000395344; ENSG00000121853 [Q92847-2]
GeneIDi2693
KEGGihsa:2693
UCSCiuc003fib.3 human [Q92847-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGHSR_HUMAN
AccessioniPrimary (citable) accession number: Q92847
Secondary accession number(s): Q14D12
, Q6ISR8, Q92848, Q96RJ7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: July 18, 2018
This is version 162 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

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