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Q92847 (GHSR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Growth hormone secretagogue receptor type 1

Short name=GHS-R
Alternative name(s):
GH-releasing peptide receptor
Short name=GHRP
Ghrelin receptor
Gene names
Name:GHSR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length366 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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). Ref.6 Ref.7

Subcellular location

Cell membrane; Multi-pass membrane protein.

Tissue specificity

Pituitary and hypothalamus.

Involvement in disease

Short stature, idiopathic, autosomal (ISSA) [MIM:604271]: A 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.
Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the G-protein coupled receptor 1 family.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Dwarfism
   DomainTransmembrane
Transmembrane helix
   Molecular functionG-protein coupled receptor
Receptor
Transducer
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processG-protein coupled receptor signaling pathway

Inferred from direct assay Ref.1. Source: HGNC

actin polymerization or depolymerization

Inferred from direct assay PubMed 15232612. Source: UniProtKB

adult feeding behavior

Inferred from sequence or structural similarity. Source: HGNC

cellular response to insulin stimulus

Inferred from electronic annotation. Source: Ensembl

decidualization

Inferred from direct assay PubMed 17494105. Source: UniProtKB

growth hormone secretion

Traceable author statement Ref.8. Source: HGNC

hormone-mediated signaling pathway

Inferred from direct assay Ref.1. Source: HGNC

negative regulation of inflammatory response

Inferred from direct assay PubMed 15232612. Source: UniProtKB

negative regulation of insulin secretion

Inferred from electronic annotation. Source: Ensembl

negative regulation of interleukin-1 beta production

Inferred from direct assay PubMed 15232612. Source: UniProtKB

negative regulation of interleukin-6 biosynthetic process

Inferred from direct assay PubMed 15232612. Source: UniProtKB

negative regulation of tumor necrosis factor biosynthetic process

Inferred from direct assay PubMed 15232612. Source: UniProtKB

positive regulation of appetite

Inferred from sequence or structural similarity. Source: HGNC

positive regulation of fatty acid metabolic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of insulin-like growth factor receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of multicellular organism growth

Inferred from mutant phenotype Ref.8. Source: HGNC

regulation of hindgut contraction

Inferred from electronic annotation. Source: Ensembl

regulation of synapse assembly

Inferred from electronic annotation. Source: Ensembl

response to food

Inferred from electronic annotation. Source: Ensembl

response to hormone

Inferred from direct assay PubMed 15232612. Source: UniProtKB

   Cellular_componentcell surface

Inferred from direct assay Ref.1. Source: HGNC

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

membrane raft

Inferred from direct assay PubMed 15232612. Source: UniProtKB

neuron projection

Inferred from direct assay PubMed 12890514. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionG-protein coupled receptor activity

Inferred from direct assay Ref.1. Source: HGNC

growth hormone secretagogue receptor activity

Inferred from direct assay Ref.1. Source: HGNC

growth hormone-releasing hormone receptor activity

Inferred from direct assay Ref.1. Source: HGNC

peptide hormone binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1A (identifier: Q92847-1)

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.
Isoform 1B (identifier: Q92847-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 366366Growth hormone secretagogue receptor type 1
PRO_0000069479

Regions

Topological domain1 – 4040Extracellular Potential
Transmembrane41 – 6626Helical; Name=1; Potential
Topological domain67 – 726Cytoplasmic Potential
Transmembrane73 – 9624Helical; Name=2; Potential
Topological domain97 – 11721Extracellular Potential
Transmembrane118 – 13922Helical; Name=3; Potential
Topological domain140 – 16223Cytoplasmic Potential
Transmembrane163 – 18321Helical; Name=4; Potential
Topological domain184 – 21128Extracellular Potential
Transmembrane212 – 23524Helical; Name=5; Potential
Topological domain236 – 26328Cytoplasmic Potential
Transmembrane264 – 28522Helical; Name=6; Potential
Topological domain286 – 30217Extracellular Potential
Transmembrane303 – 32624Helical; Name=7; Potential
Topological domain327 – 36640Cytoplasmic Potential

Amino acid modifications

Glycosylation131N-linked (GlcNAc...) Potential
Glycosylation271N-linked (GlcNAc...) Potential
Disulfide bond116 ↔ 198 By similarity

Natural variations

Alternative sequence266 – 28924AVVVF…LFSKS → GGSQRALRLSLAGPILSLCL LPSL in isoform 1B.
VSP_001916
Alternative sequence290 – 36677Missing in isoform 1B.
VSP_001917
Natural variant51T → I.
Corresponds to variant rs2232165 [ dbSNP | Ensembl ].
VAR_049389
Natural variant2041A → E in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin. Ref.8
VAR_032705

Sequences

Sequence LengthMass (Da)Tools
Isoform 1A [UniParc].

Last modified February 1, 1997. Version 1.
Checksum: D1B62710DA9DC0C6

FASTA36641,329
        10         20         30         40         50         60 
MWNATPSEEP GFNLTLADLD WDASPGNDSL GDELLQLFPA PLLAGVTATC VALFVVGIAG 

        70         80         90        100        110        120 
NLLTMLVVSR FRELRTTTNL YLSSMAFSDL LIFLCMPLDL VRLWQYRPWN FGDLLCKLFQ 

       130        140        150        160        170        180 
FVSESCTYAT VLTITALSVE RYFAICFPLR AKVVVTKGRV KLVIFVIWAV AFCSAGPIFV 

       190        200        210        220        230        240 
LVGVEHENGT DPWDTNECRP TEFAVRSGLL TVMVWVSSIF FFLPVFCLTV LYSLIGRKLW 

       250        260        270        280        290        300 
RRRRGDAVVG ASLRDQNHKQ TVKMLAVVVF AFILCWLPFH VGRYLFSKSF EPGSLEIAQI 

       310        320        330        340        350        360 
SQYCNLVSFV LFYLSAAINP ILYNIMSKKY RVAVFRLLGF EPFSQRKLST LKDESSRAWT 


ESSINT 

« Hide

Isoform 1B [UniParc].

Checksum: 8032FDB4C6BDD42B
Show »

FASTA28932,153

References

« Hide 'large scale' references
[1]"A receptor in pituitary and hypothalamus that functions in growth hormone release."
Howard A.D., Feighner S.D., Cully D.F., Arena J.P., Liberator P.A., Rosenblum C.I., Hamelin M., Hreniuk D.L., Palyha O.C., Anderson J., Paress P.S., Diaz C., Chou M., Liu K.K., McKee K.K., Pong S.-S., Chaung L.-Y., Elbrecht A. expand/collapse author list , Dashkevicz M., Heavens R., Rigby M., Sirinathsinghji D.J.S., Dean D.C., Melillo D.G., Patchett A.A., Nargund R., Griffin P.R., Demartino J.A., Gupta S.K., Schaeffer J.M., Smith R.G., van der Ploeg L.H.T.
Science 273:974-977(1996) [PubMed] [Europe PMC] [Abstract]
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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Growth hormone secretagogue receptor family members and ligands."
Smith R.G., Leonard R., Bailey A.R.T., Palyha O.C., Feighner S.D., Tan C.P., Mckee K.K., Pong S.-S., Griffin P.R., Howard A.D.
Endocrine 14:9-14(2001) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_004113.1. NM_004122.2.
NP_940799.1. NM_198407.2.
UniGeneHs.130212.

3D structure databases

ProteinModelPortalQ92847.
SMRQ92847. Positions 36-336.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000241256.

Chemistry

BindingDBQ92847.
ChEMBLCHEMBL4616.
GuidetoPHARMACOLOGY246.

Protein family/group databases

TCDB9.A.14.1.6. the g-protein-coupled receptor (gpcr) family.
GPCRDBSearch...

Polymorphism databases

DMDM2494998.

Proteomic databases

PRIDEQ92847.

Protocols and materials databases

DNASU2693.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000241256; ENSP00000241256; ENSG00000121853. [Q92847-1]
ENST00000427970; ENSP00000395344; ENSG00000121853. [Q92847-2]
GeneID2693.
KEGGhsa:2693.
UCSCuc003fib.2. human. [Q92847-1]
uc011bpv.2. human. [Q92847-2]

Organism-specific databases

CTD2693.
GeneCardsGC03M172162.
HGNCHGNC:4267. GHSR.
HPACAB012451.
MIM601898. gene.
604271. phenotype.
neXtProtNX_Q92847.
Orphanet314811. Short stature due to GHSR deficiency.
PharmGKBPA28677.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG303294.
HOGENOMHOG000272571.
HOVERGENHBG006538.
InParanoidQ92847.
KOK04284.
OMATNECRAT.
OrthoDBEOG7992QV.
PhylomeDBQ92847.
TreeFamTF332184.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ92847.
BgeeQ92847.
CleanExHS_GHSR.
GenevestigatorQ92847.

Family and domain databases

Gene3D1.20.1070.10. 1 hit.
InterProIPR003905. GHS-R.
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
[Graphical view]
PfamPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSPR01417. GHSRECEPTOR.
PR00237. GPCRRHODOPSN.
PROSITEPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGrowth_hormone_secretagogue_receptor.
GenomeRNAi2693.
NextBio10650.
PROQ92847.
SOURCESearch...

Entry information

Entry nameGHSR_HUMAN
AccessionPrimary (citable) accession number: Q92847
Secondary accession number(s): Q14D12 expand/collapse secondary AC list , Q6ISR8, Q92848, Q96RJ7
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: April 16, 2014
This is version 130 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries