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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

  1. G-protein coupled receptor activity Source: HGNC
  2. growth hormone-releasing hormone receptor activity Source: HGNC
  3. growth hormone secretagogue receptor activity Source: HGNC
  4. peptide hormone binding Source: Ensembl

GO - Biological processi

  1. actin polymerization or depolymerization Source: UniProtKB
  2. adult feeding behavior Source: HGNC
  3. cellular response to insulin stimulus Source: Ensembl
  4. decidualization Source: UniProtKB
  5. G-protein coupled receptor signaling pathway Source: HGNC
  6. growth hormone secretion Source: HGNC
  7. hormone-mediated signaling pathway Source: HGNC
  8. negative regulation of inflammatory response Source: UniProtKB
  9. negative regulation of insulin secretion Source: Ensembl
  10. negative regulation of interleukin-1 beta production Source: UniProtKB
  11. negative regulation of interleukin-6 biosynthetic process Source: UniProtKB
  12. negative regulation of tumor necrosis factor biosynthetic process Source: UniProtKB
  13. positive regulation of appetite Source: HGNC
  14. positive regulation of fatty acid metabolic process Source: Ensembl
  15. positive regulation of insulin-like growth factor receptor signaling pathway Source: Ensembl
  16. positive regulation of multicellular organism growth Source: HGNC
  17. regulation of hindgut contraction Source: Ensembl
  18. regulation of synapse assembly Source: Ensembl
  19. response to food Source: Ensembl
  20. response to hormone Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiREACT_14819. Peptide ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.

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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:4267. GHSR.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4040ExtracellularSequence AnalysisAdd
BLAST
Transmembranei41 – 6626Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini67 – 726CytoplasmicSequence Analysis
Transmembranei73 – 9624Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini97 – 11721ExtracellularSequence AnalysisAdd
BLAST
Transmembranei118 – 13922Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini140 – 16223CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei163 – 18321Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini184 – 21128ExtracellularSequence AnalysisAdd
BLAST
Transmembranei212 – 23524Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini236 – 26328CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei264 – 28522Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini286 – 30217ExtracellularSequence AnalysisAdd
BLAST
Transmembranei303 – 32624Helical; Name=7Sequence AnalysisAdd
BLAST
Topological domaini327 – 36640CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell surface Source: HGNC
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane raft Source: UniProtKB
  4. neuron projection Source: UniProtKB
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Short stature, idiopathic, autosomal1 Publication

The disease may be caused by mutations affecting the gene represented in this entry.

Disease descriptionA condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders.

See also OMIM:604271
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti204 – 2041A → E in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin. 1 Publication
VAR_032705

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi604271. phenotype.
Orphaneti314811. Short stature due to GHSR deficiency.
PharmGKBiPA28677.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 366366Growth hormone secretagogue receptor type 1PRO_0000069479Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi13 – 131N-linked (GlcNAc...)Sequence Analysis
Glycosylationi27 – 271N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi116 ↔ 198PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PRIDEiQ92847.

Expressioni

Tissue specificityi

Pituitary and hypothalamus.

Gene expression databases

BgeeiQ92847.
CleanExiHS_GHSR.
ExpressionAtlasiQ92847. baseline.
GenevestigatoriQ92847.

Organism-specific databases

HPAiCAB012451.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000241256.

Structurei

3D structure databases

ProteinModelPortaliQ92847.
SMRiQ92847. Positions 46-331.
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

eggNOGiNOG303294.
GeneTreeiENSGT00700000104070.
HOGENOMiHOG000272571.
HOVERGENiHBG006538.
InParanoidiQ92847.
KOiK04284.
OMAiDTNECRA.
OrthoDBiEOG7992QV.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51T → I.
Corresponds to variant rs2232165 [ dbSNP | Ensembl ].
VAR_049389
Natural varianti204 – 2041A → E in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin. 1 Publication
VAR_032705

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei266 – 28924AVVVF…LFSKS → GGSQRALRLSLAGPILSLCL LPSL in isoform 1B. 3 PublicationsVSP_001916Add
BLAST
Alternative sequencei290 – 36677Missing in isoform 1B. 3 PublicationsVSP_001917Add
BLAST

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.2. human. [Q92847-1]
uc011bpv.2. human. [Q92847-2]

Polymorphism databases

DMDMi2494998.

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.
SMRiQ92847. Positions 46-331.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000241256.

Chemistry

BindingDBiQ92847.
ChEMBLiCHEMBL4616.
GuidetoPHARMACOLOGYi246.

Protein family/group databases

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

Polymorphism databases

DMDMi2494998.

Proteomic databases

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.2. human. [Q92847-1]
uc011bpv.2. human. [Q92847-2]

Organism-specific databases

CTDi2693.
GeneCardsiGC03M172162.
HGNCiHGNC:4267. GHSR.
HPAiCAB012451.
MIMi601898. gene.
604271. phenotype.
neXtProtiNX_Q92847.
Orphaneti314811. Short stature due to GHSR deficiency.
PharmGKBiPA28677.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG303294.
GeneTreeiENSGT00700000104070.
HOGENOMiHOG000272571.
HOVERGENiHBG006538.
InParanoidiQ92847.
KOiK04284.
OMAiDTNECRA.
OrthoDBiEOG7992QV.
PhylomeDBiQ92847.
TreeFamiTF332184.

Enzyme and pathway databases

ReactomeiREACT_14819. Peptide ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.

Miscellaneous databases

GeneWikiiGrowth_hormone_secretagogue_receptor.
GenomeRNAii2693.
NextBioi10650.
PROiQ92847.
SOURCEiSearch...

Gene expression databases

BgeeiQ92847.
CleanExiHS_GHSR.
ExpressionAtlasiQ92847. baseline.
GenevestigatoriQ92847.

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...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B).
    Tissue: Pituitary.
  2. "Genomic structure and transcriptional regulation of the human growth hormone secretagogue receptor."
    Petersenn S., Rasch A.C., Penshorn M., Beil F.U., Schulte H.M.
    Endocrinology 142:2649-2659(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1A AND 1B).
  3. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
    Kopatz S.A., Aronstam R.S., Sharma S.V.
    Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1A AND 1B).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1A AND 1B).
  6. Cited for: FUNCTION.
  7. "Ghrelin is a growth-hormone-releasing acylated peptide from stomach."
    Kojima M., Hosoda H., Date Y., Nakazato M., Matsuo H., Kangawa K.
    Nature 402:656-660(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature."
    Pantel J., Legendre M., Cabrol S., Hilal L., Hajaji Y., Morisset S., Nivot S., Vie-Luton M.-P., Grouselle D., de Kerdanet M., Kadiri A., Epelbaum J., Le Bouc Y., Amselem S.
    J. Clin. Invest. 116:760-768(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ISSA GLU-204, CHARACTERIZATION OF VARIANT ISSA GLU-204.

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: March 4, 2015
This is version 138 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

External Data

Dasty 3

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 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.