Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

GNRH1

Aliases

GNRH, GRH, LHRH, LNRH

Entrez Gene ID

2796

Gene Name

Gonadotropin releasing hormone 1

Chromosomal Location

8p21.2

HGNC ID

4419

Summary

This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015]

RefSeq DNA

NG_016457.1

RefSeq mRNA

NM_001083111.2, NM_000825.3

e!Ensembl

Gene	ENSG00000147437
Transcript	ENST00000421054, ENST00000276414
Protein	ENSP00000391280, ENSP00000276414

SNPs

SNP	SNP ID	Associated disease	References
rs2321049	rs2321049	Central Precocious Puberty (CPP)	20869425

Gene Ontology (GO)

Show/Hide all(9 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000003	Biological process	Reproduction	IBA	21873635
GO:0007165	Biological process	Signal transduction	TAS	8692981
GO:0007267	Biological process	Cell-cell signaling	TAS	1310542
GO:0007275	Biological process	Multicellular organism development	TAS	2867548
GO:0008285	Biological process	Negative regulation of cell proliferation	TAS	10832105
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0005179	Molecular function	Hormone activity	TAS	2863757
GO:0005183	Molecular function	Gonadotropin hormone-releasing hormone activity	IBA	21873635
GO:0031530	Molecular function	Gonadotropin-releasing hormone receptor binding	IBA	21873635

Protein Information

Protein Name

Progonadoliberin-1, GnRH-associated peptide 1, gonadotropin-releasing hormone 1 (luteinizing-releasing hormone), leuteinizing-releasing hormone, luliberin I, prolactin release-inhibiting factor

Function

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

Refseq Proteins

NP_001076580.1, NP_000816.4

UniProt

P01148

PDB

4D5M