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P30968

- GNRHR_HUMAN

UniProt

P30968 - GNRHR_HUMAN

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Protein

Gonadotropin-releasing hormone receptor

Gene

GNRHR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3838ExtracellularSequence AnalysisAdd
BLAST
Transmembranei39 – 5820Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini59 – 7719CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei78 – 9720Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini98 – 11518ExtracellularSequence AnalysisAdd
BLAST
Transmembranei116 – 13722Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini138 – 16427CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei165 – 18420Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini185 – 21228ExtracellularSequence AnalysisAdd
BLAST
Transmembranei213 – 23220Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini233 – 28149CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei282 – 30019Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini301 – 3066ExtracellularSequence Analysis
Transmembranei307 – 32620Helical; Name=7Sequence AnalysisAdd
BLAST
Topological domaini327 – 3282CytoplasmicSequence Analysis

GO - Cellular componenti

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

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.
ExpressionAtlasiP30968. baseline.
GenevestigatoriP30968.

Interactioni

Protein-protein interaction databases

BioGridi109060. 1 interaction.
STRINGi9606.ENSP00000226413.

Structurei

3D structure databases

ProteinModelPortaliP30968.
SMRiP30968. Positions 21-327.
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

eggNOGiNOG277514.
GeneTreeiENSGT00760000119156.
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

        10         20         30         40         50
MANSASPEQN QNHCSAINNS IPLMQGNLPT LTLSGKIRVT VTFFLFLLSA
60 70 80 90 100
TFNASFLLKL QKWTQKKEKG KKLSRMKLLL KHLTLANLLE TLIVMPLDGM
110 120 130 140 150
WNITVQWYAG ELLCKVLSYL KLFSMYAPAF MMVVISLDRS LAITRPLALK
160 170 180 190 200
SNSKVGQSMV GLAWILSSVF AGPQLYIFRM IHLADSSGQT KVFSQCVTHC
210 220 230 240 250
SFSQWWHQAF YNFFTFSCLF IIPLFIMLIC NAKIIFTLTR VLHQDPHELQ
260 270 280 290 300
LNQSKNNIPR ARLKTLKMTV AFATSFTVCW TPYYVLGIWY WFDPEMLNRL
310 320
SDPVNHFFFL FAFLNPCFDP LIYGYFSL
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
DB06719. Buserelin.
DB00050. Cetrorelix.
DB01406. Danazol.
DB06699. Degarelix.
DB00644. Gonadorelin.
DB00014. Goserelin.
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.
GeneTreei ENSGT00760000119156.
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.
ExpressionAtlasi P30968. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 146 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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