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P30968

- GNRHR_HUMAN

UniProt

P30968 - GNRHR_HUMAN

Protein

Gonadotropin-releasing hormone receptor

Gene

GNRHR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 1 (01 Jul 1993)
      Previous versions | rss
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    Functioni

    Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling.

    GO - Molecular functioni

    1. gonadotropin-releasing hormone receptor activity Source: ProtInc

    GO - Biological processi

    1. cellular response to gonadotropin-releasing hormone Source: GOC
    2. G-protein coupled receptor signaling pathway Source: ProtInc
    3. multicellular organismal development Source: ProtInc

    Keywords - Molecular functioni

    G-protein coupled receptor, Receptor, Transducer

    Enzyme and pathway databases

    ReactomeiREACT_16942. Hormone ligand-binding receptors.
    REACT_18283. G alpha (q) signalling events.

    Protein family/group databases

    TCDBi9.A.14.10.1. the g-protein-coupled receptor (gpcr) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gonadotropin-releasing hormone receptor
    Short name:
    GnRH receptor
    Short name:
    GnRH-R
    Gene namesi
    Name:GNRHR
    Synonyms:GRHR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:4421. GNRHR.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: UniProtKB
    2. membrane Source: UniProtKB
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).9 Publications
    Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in GNRHR as well as in other HH-associated genes including FGFR1 (PubMed:23643382).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101N → K in HH7; is able to bind GnRH but with a reduced affinity in vitro. 1 Publication
    VAR_019311
    Natural varianti83 – 831L → V in HH7; the patient also carries a mutation in FGFR1. 1 Publication
    VAR_069960
    Natural varianti90 – 901E → K in HH7; virtual abolition of GnRH agonist binding and agonist-stimulated phosphoinositide turnover; impairs GnRHR-effector coupling. 1 Publication
    VAR_019312
    Natural varianti106 – 1061Q → R in HH7 and FEUNS; some patients also carry mutations in FGFR1; decreases but does not eliminate GnRH binding. 5 Publications
    Corresponds to variant rs104893836 [ dbSNP | Ensembl ].
    VAR_019313
    Natural varianti129 – 1291A → D in HH7; complete loss of function. 1 Publication
    VAR_019314
    Natural varianti139 – 1391R → H in HH7; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro. 1 Publication
    VAR_019315
    Natural varianti168 – 1681S → R in HH7; complete loss of the receptor-mediated signaling response. 1 Publication
    VAR_019316
    Natural varianti171 – 1711A → T in HH7; complete loss of ligand binding and receptor activation; specific receptor binding of radioisotope-labeled GnRH ligand is undetectable in transfected cells. 1 Publication
    VAR_019317
    Natural varianti217 – 2171S → R in HH7; altered hormone binding. 1 Publication
    VAR_019318
    Natural varianti262 – 2621R → Q in HH7; some patients also carry mutations in FGFR1; minimal effects upon receptor affinity but expression decreased; altered activation of phospholipase C. 5 Publications
    Corresponds to variant rs104893837 [ dbSNP | Ensembl ].
    VAR_019319
    Natural varianti284 – 2841Y → C in HH7; minimal effects upon receptor affinity but receptor expression decreased. 1 Publication
    Corresponds to variant rs28933074 [ dbSNP | Ensembl ].
    VAR_019320
    Fertile eunuch syndrome (FEUNS) [MIM:228300]: Mild phenotypic form of HH going with the presence of normal testicular size and some degree of spermatogenesis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti106 – 1061Q → R in HH7 and FEUNS; some patients also carry mutations in FGFR1; decreases but does not eliminate GnRH binding. 5 Publications
    Corresponds to variant rs104893836 [ dbSNP | Ensembl ].
    VAR_019313

    Keywords - Diseasei

    Disease mutation, Hypogonadotropic hypogonadism

    Organism-specific databases

    MIMi146110. phenotype.
    228300. phenotype.
    Orphaneti432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBiPA28800.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 328328Gonadotropin-releasing hormone receptorPRO_0000069487Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi18 – 181N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi102 – 1021N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi114 ↔ 196PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP30968.
    PRIDEiP30968.

    Expressioni

    Tissue specificityi

    Pituitary, ovary, testis, breast and prostate but not in liver and spleen.

    Gene expression databases

    BgeeiP30968.
    CleanExiHS_GNRHR.
    GenevestigatoriP30968.

    Interactioni

    Protein-protein interaction databases

    BioGridi109060. 1 interaction.
    STRINGi9606.ENSP00000226413.

    Structurei

    3D structure databases

    ProteinModelPortaliP30968.
    SMRiP30968. Positions 21-327.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3838ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini59 – 7719CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini98 – 11518ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini138 – 16427CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini185 – 21228ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini233 – 28149CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini301 – 3066ExtracellularSequence Analysis
    Topological domaini327 – 3282CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei39 – 5820Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei78 – 9720Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei116 – 13722Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei165 – 18420Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei213 – 23220Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei282 – 30019Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei307 – 32620Helical; 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

    eggNOGiNOG277514.
    HOGENOMiHOG000251590.
    HOVERGENiHBG009082.
    InParanoidiP30968.
    KOiK04280.
    OMAiATSFTVC.
    OrthoDBiEOG71G9V8.
    PhylomeDBiP30968.
    TreeFamiTF106499.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR001658. GphnRH_fam_rcpt.
    IPR027982. GphnRH_rcpt.
    [Graphical view]
    PANTHERiPTHR24241:SF22. PTHR24241:SF22. 1 hit.
    PfamiPF00001. 7tm_1. 1 hit.
    [Graphical view]
    PRINTSiPR00529. GNADOTRPHINR.
    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 1 (identifier: P30968-1) [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

    MANSASPEQN QNHCSAINNS IPLMQGNLPT LTLSGKIRVT VTFFLFLLSA    50
    TFNASFLLKL QKWTQKKEKG KKLSRMKLLL KHLTLANLLE TLIVMPLDGM 100
    WNITVQWYAG ELLCKVLSYL KLFSMYAPAF MMVVISLDRS LAITRPLALK 150
    SNSKVGQSMV GLAWILSSVF AGPQLYIFRM IHLADSSGQT KVFSQCVTHC 200
    SFSQWWHQAF YNFFTFSCLF IIPLFIMLIC NAKIIFTLTR VLHQDPHELQ 250
    LNQSKNNIPR ARLKTLKMTV AFATSFTVCW TPYYVLGIWY WFDPEMLNRL 300
    SDPVNHFFFL FAFLNPCFDP LIYGYFSL 328
    Length:328
    Mass (Da):37,731
    Last modified:July 1, 1993 - v1
    Checksum:iD02B2EA2F4246D7B
    GO
    Isoform 2 (identifier: P30968-2) [UniParc]FASTAAdd to Basket

    Also known as: Truncated

    The sequence of this isoform differs from the canonical sequence as follows:
         176-328: YIFRMIHLAD...DPLIYGYFSL → PLHHPSFHHA...LLCPRNLVLV

    Show »
    Length:249
    Mass (Da):27,727
    Checksum:i5801B1C5E5FBA64A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti247 – 2471H → T in CAB17082. (PubMed:10366411)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101N → K in HH7; is able to bind GnRH but with a reduced affinity in vitro. 1 Publication
    VAR_019311
    Natural varianti83 – 831L → V in HH7; the patient also carries a mutation in FGFR1. 1 Publication
    VAR_069960
    Natural varianti90 – 901E → K in HH7; virtual abolition of GnRH agonist binding and agonist-stimulated phosphoinositide turnover; impairs GnRHR-effector coupling. 1 Publication
    VAR_019312
    Natural varianti106 – 1061Q → R in HH7 and FEUNS; some patients also carry mutations in FGFR1; decreases but does not eliminate GnRH binding. 5 Publications
    Corresponds to variant rs104893836 [ dbSNP | Ensembl ].
    VAR_019313
    Natural varianti129 – 1291A → D in HH7; complete loss of function. 1 Publication
    VAR_019314
    Natural varianti139 – 1391R → H in HH7; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro. 1 Publication
    VAR_019315
    Natural varianti168 – 1681S → R in HH7; complete loss of the receptor-mediated signaling response. 1 Publication
    VAR_019316
    Natural varianti171 – 1711A → T in HH7; complete loss of ligand binding and receptor activation; specific receptor binding of radioisotope-labeled GnRH ligand is undetectable in transfected cells. 1 Publication
    VAR_019317
    Natural varianti217 – 2171S → R in HH7; altered hormone binding. 1 Publication
    VAR_019318
    Natural varianti262 – 2621R → Q in HH7; some patients also carry mutations in FGFR1; minimal effects upon receptor affinity but expression decreased; altered activation of phospholipase C. 5 Publications
    Corresponds to variant rs104893837 [ dbSNP | Ensembl ].
    VAR_019319
    Natural varianti284 – 2841Y → C in HH7; minimal effects upon receptor affinity but receptor expression decreased. 1 Publication
    Corresponds to variant rs28933074 [ dbSNP | Ensembl ].
    VAR_019320

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei176 – 328153YIFRM…GYFSL → PLHHPSFHHADLQCKNHLHP DTGPSSGPPRTTTESVQEQY TKSTAEDSKNDGCICHFIYC LLDSLLCPRNLVLV in isoform 2. 1 PublicationVSP_001914Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L03380 mRNA. Translation: AAA35918.1.
    L07949 mRNA. Translation: AAA35917.1.
    S60587 mRNA. Translation: AAB26287.1.
    S77472 mRNA. Translation: AAB33884.1.
    AF001952, AF001950, AF001951 Genomic DNA. Translation: AAB71348.1.
    Z81148 mRNA. Translation: CAB03541.1.
    AY392011 mRNA. Translation: AAR92228.1.
    BC113546 mRNA. Translation: AAI13547.1.
    Z99995 Genomic DNA. Translation: CAB17082.1.
    CCDSiCCDS3517.1. [P30968-1]
    CCDS47064.1. [P30968-2]
    PIRiJC1353.
    RefSeqiNP_000397.1. NM_000406.2. [P30968-1]
    NP_001012781.1. NM_001012763.1. [P30968-2]
    UniGeneiHs.407587.

    Genome annotation databases

    EnsembliENST00000226413; ENSP00000226413; ENSG00000109163. [P30968-1]
    ENST00000420975; ENSP00000397561; ENSG00000109163. [P30968-2]
    GeneIDi2798.
    KEGGihsa:2798.
    UCSCiuc003hdm.3. human. [P30968-2]
    uc003hdn.3. human. [P30968-1]

    Polymorphism databases

    DMDMi399777.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L03380 mRNA. Translation: AAA35918.1 .
    L07949 mRNA. Translation: AAA35917.1 .
    S60587 mRNA. Translation: AAB26287.1 .
    S77472 mRNA. Translation: AAB33884.1 .
    AF001952 , AF001950 , AF001951 Genomic DNA. Translation: AAB71348.1 .
    Z81148 mRNA. Translation: CAB03541.1 .
    AY392011 mRNA. Translation: AAR92228.1 .
    BC113546 mRNA. Translation: AAI13547.1 .
    Z99995 Genomic DNA. Translation: CAB17082.1 .
    CCDSi CCDS3517.1. [P30968-1 ]
    CCDS47064.1. [P30968-2 ]
    PIRi JC1353.
    RefSeqi NP_000397.1. NM_000406.2. [P30968-1 ]
    NP_001012781.1. NM_001012763.1. [P30968-2 ]
    UniGenei Hs.407587.

    3D structure databases

    ProteinModelPortali P30968.
    SMRi P30968. Positions 21-327.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109060. 1 interaction.
    STRINGi 9606.ENSP00000226413.

    Chemistry

    BindingDBi P30968.
    ChEMBLi CHEMBL1855.
    DrugBanki DB00106. Abarelix.
    DB00050. Cetrorelix.
    DB01406. Danazol.
    DB00644. Gonadorelin.
    DB00007. Leuprolide.
    DB00666. Nafarelin.
    GuidetoPHARMACOLOGYi 256.

    Protein family/group databases

    TCDBi 9.A.14.10.1. the g-protein-coupled receptor (gpcr) family.
    GPCRDBi Search...

    Polymorphism databases

    DMDMi 399777.

    Proteomic databases

    PaxDbi P30968.
    PRIDEi P30968.

    Protocols and materials databases

    DNASUi 2798.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000226413 ; ENSP00000226413 ; ENSG00000109163 . [P30968-1 ]
    ENST00000420975 ; ENSP00000397561 ; ENSG00000109163 . [P30968-2 ]
    GeneIDi 2798.
    KEGGi hsa:2798.
    UCSCi uc003hdm.3. human. [P30968-2 ]
    uc003hdn.3. human. [P30968-1 ]

    Organism-specific databases

    CTDi 2798.
    GeneCardsi GC04M068608.
    GeneReviewsi GNRHR.
    HGNCi HGNC:4421. GNRHR.
    MIMi 138850. gene.
    146110. phenotype.
    228300. phenotype.
    neXtProti NX_P30968.
    Orphaneti 432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBi PA28800.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG277514.
    HOGENOMi HOG000251590.
    HOVERGENi HBG009082.
    InParanoidi P30968.
    KOi K04280.
    OMAi ATSFTVC.
    OrthoDBi EOG71G9V8.
    PhylomeDBi P30968.
    TreeFami TF106499.

    Enzyme and pathway databases

    Reactomei REACT_16942. Hormone ligand-binding receptors.
    REACT_18283. G alpha (q) signalling events.

    Miscellaneous databases

    GeneWikii GNRHR.
    GenomeRNAii 2798.
    NextBioi 11027.
    PROi P30968.
    SOURCEi Search...

    Gene expression databases

    Bgeei P30968.
    CleanExi HS_GNRHR.
    Genevestigatori P30968.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR001658. GphnRH_fam_rcpt.
    IPR027982. GphnRH_rcpt.
    [Graphical view ]
    PANTHERi PTHR24241:SF22. PTHR24241:SF22. 1 hit.
    Pfami PF00001. 7tm_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00529. GNADOTRPHINR.
    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. "Cloning, sequencing, and expression of human gonadotropin releasing hormone (GnRH) receptor."
      Kakar S.S., Musgrove L.C., Devor D.C., Sellers J.C., Neill J.D.
      Biochem. Biophys. Res. Commun. 189:289-295(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Pituitary.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Pituitary.
    3. "The nucleotide sequences of human GnRH receptors in breast and ovarian tumors are identical with that found in pituitary."
      Kakar S.S., Grizzle W.E., Neill J.D.
      Mol. Cell. Endocrinol. 106:145-149(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. "Molecular structure of the human gonadotropin-releasing hormone receptor gene."
      Kakar S.S.
      Eur. J. Endocrinol. 137:183-192(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    5. "Inhibition of gonadotropin-releasing hormone receptor signaling by expression of a splice variant of the human receptor."
      Grosse R., Schoneberg T., Schultz G., Gudermann T.
      Mol. Endocrinol. 11:1305-1318(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Pituitary.
    6. "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 (SEP-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    7. "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] (ISOFORM 1).
    8. "Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene."
      Kottler M.L., Bergametti F., Carre M.C., Morice S., Decoret E., Lagarde J.P., Starzec A., Counis R.
      Eur. J. Endocrinol. 140:561-569(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 247-328 (ISOFORM 1).
    9. "A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor."
      de Roux N., Young J., Misrahi M., Genet R., Chanson P., Schaison G., Milgrom E.
      N. Engl. J. Med. 337:1597-1602(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HH7 ARG-106 AND GLN-262.
    10. "Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism."
      Layman L.C., Cohen D.P., Jin M., Xie J., Li Z., Reindollar R.H., Bolbolan S., Bick D.P., Sherins R.R., Duck L.W., Musgrove L.C., Sellers J.C., Neill J.D.
      Nat. Genet. 18:14-15(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HH7 GLN-262 AND CYS-284, CHARACTERIZATION OF VARIANTS HH7 GLN-262 AND CYS-284.
    11. "The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred."
      de Roux N., Young J., Brailly-Tabard S., Misrahi M., Milgrom E., Schaison G.
      J. Clin. Endocrinol. Metab. 84:567-572(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HH7 ARG-106; ARG-217 AND GLN-262, CHARACTERIZATION OF VARIANTS HH7 ARG-106; ARG-217 AND GLN-262.
    12. "Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration."
      Caron P., Chauvin S., Christin-Maitre S., Bennet A., Lahlou N., Counis R., Bouchard P., Kottler M.-L.
      J. Clin. Endocrinol. Metab. 84:990-996(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HH7 ASP-129 AND GLN-262, CHARACTERIZATION OF VARIANT HH7 ASP-129.
    13. "Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor."
      Pralong F.P., Gomez F., Castillo E., Cotecchia S., Abuin L., Aubert M.L., Portmann L., Gaillard R.C.
      J. Clin. Endocrinol. Metab. 84:3811-3816(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH7 ARG-168, CHARACTERIZATION OF VARIANT HH7 ARG-168.
    14. "The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor."
      Pitteloud N., Boepple P.A., DeCruz S., Valkenburgh S.B., Crowley W.F. Jr., Hayes F.J.
      J. Clin. Endocrinol. Metab. 86:2470-2475(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FEUNS ARG-106.
    15. "A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene."
      Soederlund D., Canto P., de la Chesnaye E., Ulloa-Aguirre A., Mendez J.P.
      Clin. Endocrinol. (Oxf.) 54:493-498(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH7 LYS-90.
    16. "Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction."
      Costa E.M.F., Bedecarrats G.Y., Mendonca B.B., Arnhold I.J.P., Kaiser U.B., Latronico A.C.
      J. Clin. Endocrinol. Metab. 86:2680-2686(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HH7 LYS-10; ARG-106 AND HIS-139, CHARACTERIZATION OF VARIANTS HH7 LYS-10; ARG-106 AND HIS-139.
    17. "Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site."
      Maya-Nunez G., Janovick J.A., Ulloa-Aguirre A., Soederlund D., Conn P.M., Mendez J.P.
      J. Clin. Endocrinol. Metab. 87:2144-2149(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT HH7 LYS-90.
    18. "Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism."
      Karges B., Karges W., Mine M., Ludwig L., Kuehne R., Milgrom E., de Roux N.
      J. Clin. Endocrinol. Metab. 88:1873-1879(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HH7 THR-171, CHARACTERIZATION OF VARIANT HH7 THR-171.
    19. Cited for: VARIANTS HH7 VAL-83; ARG-106 AND GLN-262.

    Entry informationi

    Entry nameiGNRHR_HUMAN
    AccessioniPrimary (citable) accession number: P30968
    Secondary accession number(s): O75793, Q14D13, Q92644
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: July 1, 1993
    Last modified: October 1, 2014
    This is version 145 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 4
      Human chromosome 4: 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

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