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Q92847

- GHSR_HUMAN

UniProt

Q92847 - GHSR_HUMAN

Protein

Growth hormone secretagogue receptor type 1

Gene

GHSR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    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

    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

    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

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    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

    ArrayExpressiQ92847.
    BgeeiQ92847.
    CleanExiHS_GHSR.
    GenevestigatoriQ92847.

    Organism-specific databases

    HPAiCAB012451.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000241256.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92847.
    SMRiQ92847. Positions 46-331.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4040ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini67 – 726CytoplasmicSequence Analysis
    Topological domaini97 – 11721ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini140 – 16223CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini184 – 21128ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini236 – 26328CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini286 – 30217ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini327 – 36640CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei41 – 6626Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei73 – 9624Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei118 – 13922Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei163 – 18321Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei212 – 23524Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei264 – 28522Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei303 – 32624Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG303294.
    HOGENOMiHOG000272571.
    HOVERGENiHBG006538.
    InParanoidiQ92847.
    KOiK04284.
    OMAiMVWVSSV.
    OrthoDBiEOG7992QV.
    PhylomeDBiQ92847.
    TreeFamiTF332184.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    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. Align

    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

    MWNATPSEEP GFNLTLADLD WDASPGNDSL GDELLQLFPA PLLAGVTATC    50
    VALFVVGIAG NLLTMLVVSR FRELRTTTNL YLSSMAFSDL LIFLCMPLDL 100
    VRLWQYRPWN FGDLLCKLFQ FVSESCTYAT VLTITALSVE RYFAICFPLR 150
    AKVVVTKGRV KLVIFVIWAV AFCSAGPIFV LVGVEHENGT DPWDTNECRP 200
    TEFAVRSGLL TVMVWVSSIF FFLPVFCLTV LYSLIGRKLW RRRRGDAVVG 250
    ASLRDQNHKQ TVKMLAVVVF AFILCWLPFH VGRYLFSKSF EPGSLEIAQI 300
    SQYCNLVSFV LFYLSAAINP ILYNIMSKKY RVAVFRLLGF EPFSQRKLST 350
    LKDESSRAWT ESSINT 366
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS3218.1. [Q92847-1 ]
    CCDS46959.1. [Q92847-2 ]
    RefSeqi NP_004113.1. NM_004122.2. [Q92847-2 ]
    NP_940799.1. NM_198407.2. [Q92847-1 ]
    UniGenei Hs.130212.

    3D structure databases

    ProteinModelPortali Q92847.
    SMRi Q92847. Positions 46-331.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000241256.

    Chemistry

    BindingDBi Q92847.
    ChEMBLi CHEMBL4616.
    GuidetoPHARMACOLOGYi 246.

    Protein family/group databases

    TCDBi 9.A.14.1.6. the g-protein-coupled receptor (gpcr) family.
    GPCRDBi Search...

    Polymorphism databases

    DMDMi 2494998.

    Proteomic databases

    PRIDEi Q92847.

    Protocols and materials databases

    DNASUi 2693.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000241256 ; ENSP00000241256 ; ENSG00000121853 . [Q92847-1 ]
    ENST00000427970 ; ENSP00000395344 ; ENSG00000121853 . [Q92847-2 ]
    GeneIDi 2693.
    KEGGi hsa:2693.
    UCSCi uc003fib.2. human. [Q92847-1 ]
    uc011bpv.2. human. [Q92847-2 ]

    Organism-specific databases

    CTDi 2693.
    GeneCardsi GC03M172162.
    HGNCi HGNC:4267. GHSR.
    HPAi CAB012451.
    MIMi 601898. gene.
    604271. phenotype.
    neXtProti NX_Q92847.
    Orphaneti 314811. Short stature due to GHSR deficiency.
    PharmGKBi PA28677.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG303294.
    HOGENOMi HOG000272571.
    HOVERGENi HBG006538.
    InParanoidi Q92847.
    KOi K04284.
    OMAi MVWVSSV.
    OrthoDBi EOG7992QV.
    PhylomeDBi Q92847.
    TreeFami TF332184.

    Enzyme and pathway databases

    Reactomei REACT_14819. Peptide ligand-binding receptors.
    REACT_18283. G alpha (q) signalling events.

    Miscellaneous databases

    GeneWikii Growth_hormone_secretagogue_receptor.
    GenomeRNAii 2693.
    NextBioi 10650.
    PROi Q92847.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92847.
    Bgeei Q92847.
    CleanExi HS_GHSR.
    Genevestigatori Q92847.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR003905. GHS-R.
    IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    [Graphical view ]
    Pfami PF00001. 7tm_1. 1 hit.
    [Graphical view ]
    PRINTSi PR01417. GHSRECEPTOR.
    PR00237. GPCRRHODOPSN.
    PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 135 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