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GNRHR gonadotropin releasing hormone receptor [ Homo sapiens (human) ]

Gene ID: 2798, updated on 23-Nov-2021

Summary

Official Symbol
GNRHRprovided by HGNC
Official Full Name
gonadotropin releasing hormone receptorprovided by HGNC
Primary source
HGNC:HGNC:4421
See related
Ensembl:ENSG00000109163 MIM:138850
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HH7; GRHR; LRHR; LHRHR; GNRHR1
Summary
This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See GNRHR in Genome Data Viewer
Location:
4q13.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (67737118..67754388, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68602836..68620106, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UBA6 divergent transcript Neighboring gene dynein, axonemal, assembly factor 5 pseudodgene Neighboring gene tubulin alpha 4a pseudogene Neighboring gene transmembrane serine protease 11C, pseudogene Neighboring gene uncharacterized LOC102724780

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables gonadotropin-releasing hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to gonadotropin-releasing hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
gonadotropin-releasing hormone receptor
Names
gnRH receptor
gnRH-R
gonadotropin-releasing hormone (type 1) receptor 1
leutinizing hormone releasing horomone receptor
leutinizing-releasing hormone receptor
luliberin receptor
type I GnRH receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009293.1 RefSeqGene

    Range
    6699..23969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000406.3NP_000397.1  gonadotropin-releasing hormone receptor isoform 1

    See identical proteins and their annotated locations for NP_000397.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC079880
    Consensus CDS
    CCDS3517.1
    UniProtKB/Swiss-Prot
    P30968
    Related
    ENSP00000226413.5, ENST00000226413.5
    Conserved Domains (2) summary
    cd14964
    Location:3867
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:36328
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  2. NM_001012763.2NP_001012781.1  gonadotropin-releasing hormone receptor isoform 2

    See identical proteins and their annotated locations for NP_001012781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1. Isoform 2 may act as an inhibitor of gonadotropin-releasing hormone receptor signaling.
    Source sequence(s)
    AC079880
    Consensus CDS
    CCDS47064.1
    UniProtKB/Swiss-Prot
    P30968
    Related
    ENSP00000397561.2, ENST00000420975.2
    Conserved Domains (1) summary
    pfam00001
    Location:76175
    7tm_1; 7 transmembrane receptor (rhodopsin family)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    67737118..67754388 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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