GNRHR
entrez
2798
canonical
uniprot
P30968
canonical
ensembl
ENSG00000109163
resolver
ensp
ENSP00000226413
resolver
ensp
ENSP00000397561
resolver
genesymbol
GNRHR
resolver
genesymbol_syn
GRHR
resolver
hgnc
HGNC:4421
resolver
uniprot
O75793
resolver
uniprot
Q14D13
resolver
uniprot
Q92644
resolver
uniprot_entry
GNRHR_HUMAN
resolver
uniprot_sec
O75793
resolver
uniprot_sec
Q14D13
resolver
uniprot_sec
Q92644
resolver
amino_acid_sequence
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLLKHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMVGLAWILSSVFAGPQLYIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTRVLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRLSDPVNHFFFLFAFLNPCFDPLIYGYFSL
uniprot
proteins
disease_involvement
DISEASE: 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). {ECO:0000269|PubMed:10022417, ECO:0000269|PubMed:10084584, ECO:0000269|PubMed:10523035, ECO:0000269|PubMed:11318785, ECO:0000269|PubMed:11397842, ECO:0000269|PubMed:11397871, ECO:0000269|PubMed:11994356, ECO:0000269|PubMed:12679486, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900, ECO:0000269|PubMed:9371856, ECO:0000269|PubMed:9425890}. Note=The disease is caused by variants 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). {ECO:0000269|PubMed:23643382}.
uniprot
proteins
function
FUNCTION: 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.
uniprot
proteins
mass_dalton
37731
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
pubmed
10022417
uniprot
proteins
pubmed
10084584
uniprot
proteins
pubmed
10366411
uniprot
proteins
pubmed
10523035
uniprot
proteins
pubmed
11318785
uniprot
proteins
pubmed
11397842
uniprot
proteins
pubmed
11397871
uniprot
proteins
pubmed
11994356
uniprot
proteins
pubmed
12679486
uniprot
proteins
pubmed
1333190
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23643382
uniprot
proteins
pubmed
25077900
uniprot
proteins
pubmed
7534732
uniprot
proteins
pubmed
8386108
uniprot
proteins
pubmed
9259321
uniprot
proteins
pubmed
9272108
uniprot
proteins
pubmed
9371856
uniprot
proteins
pubmed
9425890
uniprot
proteins
sequence_length
328
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 39..58; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 78..97; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 116..137; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 165..184; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 213..232; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 282..300; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 307..326; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins