GNRH1: Polycystic Ovarian Syndrome Database

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GNRH1

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

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

HGNC: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

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

Pfam

Pfam Accession	Pfam ID
PF00446	GnRH

Pathways
	KEGG	Reactome
	Neuroactive ligand-receptor interaction GnRH signaling pathway	Hormone ligand-binding receptors G alpha (q) signalling events

Interactions

STRING	MINT	IntAct
ENSP00000299022		P11150

View interactions

Associated Diseases

Show/Hide all(5 )

Disease group	Disease Name	References
Cardiovascular Diseases
Cardiovascular Diseases	Hypertensive disease	6350720
Endocrine System Diseases
	Hypogonadism	22724017, 26595427, 23936060, 19535795, 20063086
	Hyperprolactinemia	2204052
	Precocious Puberty	18345393
	Eunuchoidism	19535795, 23643382
	PCOS	8692506
Neoplasms
	Adrenal Cancer	19261682
	Vulvar Cancer	22288973
Reproductive disorders
	Male infertility	20063086
	Precocious Puberty	27931036, 27648561
Respiratory Tract Diseases
Respiratory Tract Diseases	Respiratory Distress Syndrome	25070658

References

Show/Hide all(2)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
19403562	LH, FSH, FSHR, testosterone		Trp16Ser [rs6185]	Rotterdam criteria	Related	518 Caucasian PCOS women and 2996 controls	Genetic variants of the HPG-axis were associated with a modest but significant effect on the phenotype of PCOS
21528473	LH				Direct	151 PCOS patients, 34 controls	Women with PCOS have higher baseline and GnRH-stimulated LH concentrations. GnRH stimulation results in an increase in LH/FSH ratio in women with PCOS. Therefore we postulate that this phenomenon might be potentially useful as an additional tool in the diagnosis ofPCOS

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