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Entry version 187 (16 Oct 2019)
Sequence version 1 (01 Jul 1993)
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Protein

Gonadotropin-releasing hormone receptor

Gene

GNRHR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-375281 Hormone ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P30968

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gonadotropin-releasing hormone receptor
Short name:
GnRH receptor
Short name:
GnRH-R
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GNRHR
Synonyms:GRHR
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4421 GNRHR

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
138850 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P30968

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 38ExtracellularSequence analysisAdd BLAST38
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei39 – 58Helical; Name=1Sequence analysisAdd BLAST20
Topological domaini59 – 77CytoplasmicSequence analysisAdd BLAST19
Transmembranei78 – 97Helical; Name=2Sequence analysisAdd BLAST20
Topological domaini98 – 115ExtracellularSequence analysisAdd BLAST18
Transmembranei116 – 137Helical; Name=3Sequence analysisAdd BLAST22
Topological domaini138 – 164CytoplasmicSequence analysisAdd BLAST27
Transmembranei165 – 184Helical; Name=4Sequence analysisAdd BLAST20
Topological domaini185 – 212ExtracellularSequence analysisAdd BLAST28
Transmembranei213 – 232Helical; Name=5Sequence analysisAdd BLAST20
Topological domaini233 – 281CytoplasmicSequence analysisAdd BLAST49
Transmembranei282 – 300Helical; Name=6Sequence analysisAdd BLAST19
Topological domaini301 – 306ExtracellularSequence analysis6
Transmembranei307 – 326Helical; Name=7Sequence analysisAdd BLAST20
Topological domaini327 – 328CytoplasmicSequence analysis2

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)12 Publications
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
Disease descriptionA 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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01931110N → K in HH7; is able to bind GnRH but with a reduced affinity in vitro. 1 PublicationCorresponds to variant dbSNP:rs104893843EnsemblClinVar.1
Natural variantiVAR_07297018N → S in HH7. 1 PublicationCorresponds to variant dbSNP:rs774317793Ensembl.1
Natural variantiVAR_07297137I → S in HH7. 1 PublicationCorresponds to variant dbSNP:rs886907903Ensembl.1
Natural variantiVAR_06996083L → V in HH7; the patient also carries a mutation in FGFR1. 1 PublicationCorresponds to variant dbSNP:rs1391808526Ensembl.1
Natural variantiVAR_07297290E → D in HH7. 1 Publication1
Natural variantiVAR_01931290E → K in HH7; virtual abolition of GnRH agonist binding and agonist-stimulated phosphoinositide turnover; impairs GnRHR-effector coupling. 2 PublicationsCorresponds to variant dbSNP:rs104893844EnsemblClinVar.1
Natural variantiVAR_019313106Q → R in HH7; some patients also carry mutations in FGFR1; decreases but does not eliminate GnRH binding. 6 PublicationsCorresponds to variant dbSNP:rs104893836EnsemblClinVar.1
Natural variantiVAR_019314129A → D in HH7; complete loss of function. 2 PublicationsCorresponds to variant dbSNP:rs104893838EnsemblClinVar.1
Natural variantiVAR_019315139R → H in HH7; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro. 2 PublicationsCorresponds to variant dbSNP:rs104893842EnsemblClinVar.1
Natural variantiVAR_072973146P → S in HH7. 1 PublicationCorresponds to variant dbSNP:rs144900788EnsemblClinVar.1
Natural variantiVAR_019316168S → R in HH7; complete loss of the receptor-mediated signaling response. 1 PublicationCorresponds to variant dbSNP:rs104893840EnsemblClinVar.1
Natural variantiVAR_019317171A → 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 PublicationCorresponds to variant dbSNP:rs74452732EnsemblClinVar.1
Natural variantiVAR_019318217S → R in HH7; altered hormone binding. 1 PublicationCorresponds to variant dbSNP:rs104893839EnsemblClinVar.1
Natural variantiVAR_019319262R → Q in HH7; unknown pathological significance; some patients also carry mutations in FGFR1; minimal effects upon receptor affinity but expression decreased; altered activation of phospholipase C. 6 PublicationsCorresponds to variant dbSNP:rs104893837EnsemblClinVar.1
Natural variantiVAR_072974266L → R in HH7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148499544Ensembl.1
Natural variantiVAR_019320284Y → C in HH7; minimal effects upon receptor affinity but receptor expression decreased. 1 PublicationCorresponds to variant dbSNP:rs28933074EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism

Organism-specific databases

DisGeNET

More...
DisGeNETi
2798

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
GNRHR

MalaCards human disease database

More...
MalaCardsi
GNRHR
MIMi146110 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000109163

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
432 Normosmic congenital hypogonadotropic hypogonadism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28800

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P30968

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1855

Drug and drug target database

More...
DrugBanki
DB00106 Abarelix
DB06719 Buserelin
DB00050 Cetrorelix
DB01406 Danazol
DB06699 Degarelix
DB11979 Elagolix
DB06785 Ganirelix
DB11619 Gestrinone
DB00644 Gonadorelin
DB00014 Goserelin
DB06788 Histrelin
DB00007 Leuprolide
DB00666 Nafarelin
DB06494 Sufugolix
DB05624 Teverelix
DB06825 Triptorelin

DrugCentral

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DrugCentrali
P30968

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
256

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GNRHR

Domain mapping of disease mutations (DMDM)

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DMDMi
399777

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000694871 – 328Gonadotropin-releasing hormone receptorAdd BLAST328

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi18N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi102N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi114 ↔ 196PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P30968

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P30968

PeptideAtlas

More...
PeptideAtlasi
P30968

PRoteomics IDEntifications database

More...
PRIDEi
P30968

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
54750 [P30968-1]
54751 [P30968-2]

PTM databases

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P30968

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000109163 Expressed in 72 organ(s), highest expression level in adrenal tissue

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P30968 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA013424

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109060, 3 interactors

Protein interaction database and analysis system

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IntActi
P30968, 4 interactors

Molecular INTeraction database

More...
MINTi
P30968

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000226413

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P30968

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3656 Eukaryota
ENOG410XRW9 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00970000193367

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000251590

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P30968

KEGG Orthology (KO)

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KOi
K04280

Identification of Orthologs from Complete Genome Data

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OMAi
KGYFQCV

Database of Orthologous Groups

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OrthoDBi
1247924at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P30968

TreeFam database of animal gene trees

More...
TreeFami
TF106499

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR001658 GphnRH_fam_rcpt

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00001 7tm_1, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00529 GNADOTRPHINR
PR00237 GPCRRHODOPSN

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P30968-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti247H → T in CAB17082 (PubMed:10366411).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01931110N → K in HH7; is able to bind GnRH but with a reduced affinity in vitro. 1 PublicationCorresponds to variant dbSNP:rs104893843EnsemblClinVar.1
Natural variantiVAR_07297018N → S in HH7. 1 PublicationCorresponds to variant dbSNP:rs774317793Ensembl.1
Natural variantiVAR_07297137I → S in HH7. 1 PublicationCorresponds to variant dbSNP:rs886907903Ensembl.1
Natural variantiVAR_06996083L → V in HH7; the patient also carries a mutation in FGFR1. 1 PublicationCorresponds to variant dbSNP:rs1391808526Ensembl.1
Natural variantiVAR_07297290E → D in HH7. 1 Publication1
Natural variantiVAR_01931290E → K in HH7; virtual abolition of GnRH agonist binding and agonist-stimulated phosphoinositide turnover; impairs GnRHR-effector coupling. 2 PublicationsCorresponds to variant dbSNP:rs104893844EnsemblClinVar.1
Natural variantiVAR_019313106Q → R in HH7; some patients also carry mutations in FGFR1; decreases but does not eliminate GnRH binding. 6 PublicationsCorresponds to variant dbSNP:rs104893836EnsemblClinVar.1
Natural variantiVAR_019314129A → D in HH7; complete loss of function. 2 PublicationsCorresponds to variant dbSNP:rs104893838EnsemblClinVar.1
Natural variantiVAR_019315139R → H in HH7; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro. 2 PublicationsCorresponds to variant dbSNP:rs104893842EnsemblClinVar.1
Natural variantiVAR_072973146P → S in HH7. 1 PublicationCorresponds to variant dbSNP:rs144900788EnsemblClinVar.1
Natural variantiVAR_019316168S → R in HH7; complete loss of the receptor-mediated signaling response. 1 PublicationCorresponds to variant dbSNP:rs104893840EnsemblClinVar.1
Natural variantiVAR_019317171A → 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 PublicationCorresponds to variant dbSNP:rs74452732EnsemblClinVar.1
Natural variantiVAR_019318217S → R in HH7; altered hormone binding. 1 PublicationCorresponds to variant dbSNP:rs104893839EnsemblClinVar.1
Natural variantiVAR_019319262R → Q in HH7; unknown pathological significance; some patients also carry mutations in FGFR1; minimal effects upon receptor affinity but expression decreased; altered activation of phospholipase C. 6 PublicationsCorresponds to variant dbSNP:rs104893837EnsemblClinVar.1
Natural variantiVAR_072974266L → R in HH7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148499544Ensembl.1
Natural variantiVAR_019320284Y → C in HH7; minimal effects upon receptor affinity but receptor expression decreased. 1 PublicationCorresponds to variant dbSNP:rs28933074EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001914176 – 328YIFRM…GYFSL → PLHHPSFHHADLQCKNHLHP DTGPSSGPPRTTTESVQEQY TKSTAEDSKNDGCICHFIYC LLDSLLCPRNLVLV in isoform 2. 1 PublicationAdd BLAST153

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS3517.1 [P30968-1]
CCDS47064.1 [P30968-2]

Protein sequence database of the Protein Information Resource

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PIRi
JC1353

NCBI Reference Sequences

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RefSeqi
NP_000397.1, NM_000406.2 [P30968-1]
NP_001012781.1, NM_001012763.1 [P30968-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000226413; ENSP00000226413; ENSG00000109163 [P30968-1]
ENST00000420975; ENSP00000397561; ENSG00000109163 [P30968-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2798

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2798

UCSC genome browser

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UCSCi
uc003hdm.4 human [P30968-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi109060, 3 interactors
IntActiP30968, 4 interactors
MINTiP30968
STRINGi9606.ENSP00000226413

Chemistry databases

BindingDBiP30968
ChEMBLiCHEMBL1855
DrugBankiDB00106 Abarelix
DB06719 Buserelin
DB00050 Cetrorelix
DB01406 Danazol
DB06699 Degarelix
DB11979 Elagolix
DB06785 Ganirelix
DB11619 Gestrinone
DB00644 Gonadorelin
DB00014 Goserelin
DB06788 Histrelin
DB00007 Leuprolide
DB00666 Nafarelin
DB06494 Sufugolix
DB05624 Teverelix
DB06825 Triptorelin
DrugCentraliP30968
GuidetoPHARMACOLOGYi256

Protein family/group databases

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

Information system for G protein-coupled receptors (GPCRs)

More...
GPCRDBi
Search...

PTM databases

PhosphoSitePlusiP30968

Polymorphism and mutation databases

BioMutaiGNRHR
DMDMi399777

Proteomic databases

EPDiP30968
PaxDbiP30968
PeptideAtlasiP30968
PRIDEiP30968
ProteomicsDBi54750 [P30968-1]
54751 [P30968-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
P30968

The DNASU plasmid repository

More...
DNASUi
2798

Genome annotation databases

EnsembliENST00000226413; ENSP00000226413; ENSG00000109163 [P30968-1]
ENST00000420975; ENSP00000397561; ENSG00000109163 [P30968-2]
GeneIDi2798
KEGGihsa:2798
UCSCiuc003hdm.4 human [P30968-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2798
DisGeNETi2798

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GNRHR
GeneReviewsiGNRHR
HGNCiHGNC:4421 GNRHR
HPAiHPA013424
MalaCardsiGNRHR
MIMi138850 gene
146110 phenotype
neXtProtiNX_P30968
OpenTargetsiENSG00000109163
Orphaneti432 Normosmic congenital hypogonadotropic hypogonadism
PharmGKBiPA28800

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3656 Eukaryota
ENOG410XRW9 LUCA
GeneTreeiENSGT00970000193367
HOGENOMiHOG000251590
InParanoidiP30968
KOiK04280
OMAiKGYFQCV
OrthoDBi1247924at2759
PhylomeDBiP30968
TreeFamiTF106499

Enzyme and pathway databases

ReactomeiR-HSA-375281 Hormone ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
SIGNORiP30968

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GNRHR

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2798
PharosiP30968

Protein Ontology

More...
PROi
PR:P30968

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109163 Expressed in 72 organ(s), highest expression level in adrenal tissue
GenevisibleiP30968 HS

Family and domain databases

InterProiView protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR001658 GphnRH_fam_rcpt
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PRINTSiPR00529 GNADOTRPHINR
PR00237 GPCRRHODOPSN
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGNRHR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P30968
Secondary accession number(s): O75793, Q14D13, Q92644
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: October 16, 2019
This is version 187 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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