InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNRH1

Summary

InnateDB Protein

IDBP-12834.5

Last Modified

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

Gene Symbol

GNRH1

Protein Name

gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)

Synonyms

GNRH; GRH; HH12; LHRH; LNRH;

Species

Homo sapiens

Ensembl Protein

ENSP00000276414

InnateDB Gene

IDBG-12832 (GNRH1)

Protein Structure

UniProt Annotation

Function

Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.

Subcellular Localization

Secreted.

Disease Associations

Hypogonadotropic hypogonadism 12 with or without anosmia (HH12) [MIM:614841]: 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:19535795, ECO:0000269PubMed:23643382}. 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 GNRH1 as well as in other HH- associated genes including PROKR2 and FGFR1 (PubMed:23643382). {ECO:0000269PubMed:23643382}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005179	hormone activity
GO:0005183	gonadotropin hormone-releasing hormone activity

Biological Process

GO:0007165	signal transduction
GO:0007267	cell-cell signaling
GO:0007275	multicellular organismal development
GO:0007565	female pregnancy
GO:0008285	negative regulation of cell proliferation
GO:0010468	regulation of gene expression
GO:0031960	response to corticosteroid
GO:0042698	ovulation cycle
GO:0043066	negative regulation of apoptotic process
GO:0045471	response to ethanol
GO:0048545	response to steroid hormone
GO:2000354	regulation of ovarian follicle development
GO:2001223	negative regulation of neuron migration