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Protein

Growth hormone secretagogue receptor type 1

Gene

GHSR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • actin polymerization or depolymerization Source: UniProtKB
  • adult feeding behavior Source: HGNC
  • cellular response to insulin stimulus Source: Ensembl
  • decidualization Source: UniProtKB
  • G-protein coupled receptor signaling pathway Source: HGNC
  • growth hormone secretion Source: HGNC
  • hormone-mediated signaling pathway Source: HGNC
  • negative regulation of inflammatory response Source: UniProtKB
  • negative regulation of insulin secretion Source: Ensembl
  • negative regulation of interleukin-1 beta production Source: UniProtKB
  • negative regulation of interleukin-6 biosynthetic process Source: UniProtKB
  • negative regulation of tumor necrosis factor biosynthetic process Source: UniProtKB
  • positive regulation of appetite Source: HGNC
  • positive regulation of fatty acid metabolic process Source: Ensembl
  • positive regulation of insulin-like growth factor receptor signaling pathway Source: Ensembl
  • positive regulation of multicellular organism growth Source: HGNC
  • regulation of hindgut contraction Source: Ensembl
  • regulation of synapse assembly Source: Ensembl
  • response to food Source: Ensembl
  • response to hormone Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

BioCyciZFISH:ENSG00000121853-MONOMER.
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

HGNCiHGNC:4267. GHSR.

Subcellular locationi

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

GO - Cellular componenti

  • cell surface Source: HGNC
  • integral component of membrane Source: UniProtKB-KW
  • membrane raft Source: UniProtKB
  • neuron projection Source: UniProtKB
  • plasma membrane Source: Reactome
Complete GO annotation...

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 rs121917883dbSNPEnsembl.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 rs199588904dbSNPEnsembl.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.
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...)Sequence analysis1
Glycosylationi27N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi116 ↔ 198PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ92847.
PRIDEiQ92847.

Expressioni

Tissue specificityi

Pituitary and hypothalamus.

Gene expression databases

BgeeiENSG00000121853.
CleanExiHS_GHSR.
GenevisibleiQ92847. HS.

Organism-specific databases

HPAiCAB012451.

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.
OMAiDTNECRA.
OrthoDBiEOG091G09KB.
PhylomeDBiQ92847.
TreeFamiTF332184.

Family and domain databases

InterProiIPR003905. GHS-R.
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSiPR01417. GHSRECEPTOR.
PR00237. GPCRRHODOPSN.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]

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 rs2232165dbSNPEnsembl.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 rs121917883dbSNPEnsembl.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 rs199588904dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ92847.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000241256.

Chemistry databases

BindingDBiQ92847.
ChEMBLiCHEMBL4616.
GuidetoPHARMACOLOGYi246.

Protein family/group databases

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

Polymorphism and mutation databases

BioMutaiGHSR.
DMDMi2494998.

Proteomic databases

PaxDbiQ92847.
PRIDEiQ92847.

Protocols and materials databases

DNASUi2693.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2693.
DisGeNETi2693.
GeneCardsiGHSR.
HGNCiHGNC:4267. GHSR.
HPAiCAB012451.
MalaCardsiGHSR.
MIMi601898. gene.
615925. phenotype.
neXtProtiNX_Q92847.
OpenTargetsiENSG00000121853.
Orphaneti314811. Short stature due to GHSR deficiency.
PharmGKBiPA28677.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000121853-MONOMER.
ReactomeiR-HSA-375276. Peptide ligand-binding receptors.
R-HSA-416476. G alpha (q) signalling events.
SIGNORiQ92847.

Miscellaneous databases

GeneWikiiGrowth_hormone_secretagogue_receptor.
GenomeRNAii2693.
PROiQ92847.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121853.
CleanExiHS_GHSR.
GenevisibleiQ92847. HS.

Family and domain databases

InterProiIPR003905. GHS-R.
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSiPR01417. GHSRECEPTOR.
PR00237. GPCRRHODOPSN.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGHSR_HUMAN
AccessioniPrimary (citable) accession number: Q92847
Secondary accession number(s): Q14D12
, Q6ISR8, Q92848, Q96RJ7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: November 2, 2016
This is version 152 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.