Entity Details

Primary name GNRH1
Entity type gene
Source Source Link

Details

PrimaryID2796
RefseqGeneNG_016457
SymbolGNRH1
Namegonadotropin releasing hormone 1
Chromosome8
Location8p21.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-01-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGON1_HUMAN

GO terms

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GOName
GO:0000003 reproduction
GO:0005179 hormone activity
GO:0005183 gonadotropin hormone-releasing hormone activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005739 mitochondrion
GO:0005798 Golgi-associated vesicle
GO:0007165 signal transduction
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0007565 female pregnancy
GO:0007568 aging
GO:0008285 negative regulation of cell population proliferation
GO:0010468 regulation of gene expression
GO:0030238 male sex determination
GO:0030425 dendrite
GO:0031530 gonadotropin-releasing hormone receptor binding
GO:0031960 response to corticosteroid
GO:0032496 response to lipopolysaccharide
GO:0033087 negative regulation of immature T cell proliferation
GO:0033574 response to testosterone
GO:0034695 response to prostaglandin E
GO:0035864 response to potassium ion
GO:0043066 negative regulation of apoptotic process
GO:0043204 perikaryon
GO:0043679 axon terminus
GO:0044849 estrous cycle
GO:0045471 response to ethanol
GO:0098556 cytoplasmic side of rough endoplasmic reticulum membrane
GO:1990008 neurosecretory vesicle
GO:1990637 response to prolactin
GO:2000354 regulation of ovarian follicle development
GO:2001223 negative regulation of neuron migration

Diseases

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Disease IDSourceNameDescription
614841 OMIMHypogonadotropic hypogonadism 12 with or without anosmia (HH12)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). 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 GNRH1 as well as in other HH-associated genes including PROKR2 and FGFR1 (PubMed:23643382).

Interactions

8 interactions

InteractorPartnerSourcesPublicationsLink
GNRH1MEP1ABioGRID11278902 details
GNRH1EMC3BioGRID, IntAct28514442 details
GNRH1MALSU1BioGRID, IntAct28514442 details
GNRH1TRIM68BioGRID, IntAct28514442 details
GNRH1EMC4BioGRID, IntAct28514442 details
GNRH1MTX1BioGRID, IntAct28514442 details
GNRH1HSPA5BioGRID, IntAct28514442 details
GNRH1EMC8BioGRID, IntAct28514442 details