InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNRHR

Summary

InnateDB Protein

IDBP-21150.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GNRHR

Protein Name

gonadotropin-releasing hormone receptor

Synonyms

GNRHR1; GRHR; HH7; LHRHR; LRHR;

Species

Homo sapiens

Ensembl Protein

ENSP00000226413

InnateDB Gene

IDBG-21148 (GNRHR)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

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:0000269PubMed:10022417, ECO:0000269PubMed:10084584, ECO:0000269PubMed:10523035, ECO:0000269PubMed:11318785, ECO:0000269PubMed:11397871, ECO:0000269PubMed:12679486, ECO:0000269PubMed:23643382, ECO:0000269PubMed:9371856, ECO:0000269PubMed:9425890}. 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). {ECO:0000269PubMed:23643382}.Fertile eunuch syndrome (FEUNS) [MIM:228300]: Mild phenotypic form of HH going with the presence of normal testicular size and some degree of spermatogenesis. {ECO:0000269PubMed:11397842}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	0
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004930	G-protein coupled receptor activity
GO:0004968	gonadotropin-releasing hormone receptor activity

Biological Process

GO:0007186	G-protein coupled receptor signaling pathway
GO:0007275	multicellular organismal development
GO:0097211	cellular response to gonadotropin-releasing hormone

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000276 G protein-coupled receptor, rhodopsin-like
IPR001658 Gonadotrophin-releasing hormone receptor family
IPR001817 Vasopressin receptor
IPR017452 GPCR, rhodopsin-like, 7TM

PFAM

PF00001

PRINTS

PR00237
PR00529
PR00896

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P30968