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UniProtKB - P30968 (GNRHR_HUMAN)

Entry version 181 (13 Feb 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

  • gonadotropin-releasing hormone receptor activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000109163.6

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; 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).
See also OMIM:146110
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

More...PharmGKBi		PA28800

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
DB06785 Ganirelix
DB00644 Gonadorelin
DB00014 Goserelin
DB06788 Histrelin
DB00007 Leuprolide
DB00666 Nafarelin
DB05694 NBI-56418
DB06825 Triptorelin

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		256

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GNRHR

Domain mapping of disease mutations (DMDM)

More...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 human proteome resource

More...ProteomicsDBi		54750
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

More...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)

More...BioGridi		109060, 3 interactors

Protein interaction database and analysis system

More...IntActi		P30968, 3 interactors

Molecular INTeraction database

More...MINTi		P30968

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000226413

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P30968

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P30968

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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

More...GeneTreei		ENSGT00940000154142

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000251590

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG009082

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P30968

KEGG Orthology (KO)

More...KOi		K04280

Identification of Orthologs from Complete Genome Data

More...OMAi		KGYFQCV

Database of Orthologous Groups

More...OrthoDBi		1247924at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P30968

TreeFam database of animal gene trees

More...TreeFami		TF106499

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR001658 GphnRH_fam_rcpt
IPR027982 GphnRH_rcpt

The PANTHER Classification System

More...PANTHERi		PTHR24241:SF22 PTHR24241:SF22, 1 hit

Pfam protein domain database

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

Protein Motif fingerprint database; a protein domain database

More...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>.<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 '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
<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

More...EMBLi

GenBank nucleotide sequence database

More...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

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

Protein sequence database of the Protein Information Resource

More...PIRi		JC1353

NCBI Reference Sequences

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

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.407587

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

More...GeneIDi		2798

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2798

UCSC genome browser

More...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]
UniGeneiHs.407587

3D structure databases

ProteinModelPortaliP30968
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

Chemistry databases

BindingDBiP30968
ChEMBLiCHEMBL1855
DrugBankiDB00106 Abarelix
DB06719 Buserelin
DB00050 Cetrorelix
DB01406 Danazol
DB06699 Degarelix
DB06785 Ganirelix
DB00644 Gonadorelin
DB00014 Goserelin
DB06788 Histrelin
DB00007 Leuprolide
DB00666 Nafarelin
DB05694 NBI-56418
DB06825 Triptorelin
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
54751 [P30968-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2798
Structural Biology KnowledgebaseSearch...

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
EuPathDBiHostDB:ENSG00000109163.6

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
GeneTreeiENSGT00940000154142
HOGENOMiHOG000251590
HOVERGENiHBG009082
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

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

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
IPR027982 GphnRH_rcpt
PANTHERiPTHR24241:SF22 PTHR24241:SF22, 1 hit
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...

<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: February 13, 2019
This is version 181 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
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