GNRH1 gonadotropin releasing hormone 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNRH1provided by HGNC
Official Full Name: gonadotropin releasing hormone 1provided by HGNC
Primary source: HGNC:HGNC:4419
See related: Ensembl:ENSG00000147437 MIM:152760; AllianceGenome:HGNC:4419
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GRH; GNRH; LHRH; LNRH
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]
Expression: Ubiquitous expression in skin (RPKM 3.5), lymph node (RPKM 1.1) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (25419258..25425040, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (25694484..25700266, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (25276774..25282556, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

New Horizons: Gonadotropin-Releasing Hormone and Cognition.
Title: New Horizons: Gonadotropin-Releasing Hormone and Cognition.
History of Puberty: Normal and Precocious.
Title: History of Puberty: Normal and Precocious.
GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-Center Experience and Systematic Literature Review.
Title: GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-Center Experience and Systematic Literature Review.
The KiNG of reproduction: Kisspeptin/ nNOS interactions shaping hypothalamic GnRH release.
Title: The KiNG of reproduction: Kisspeptin/ nNOS interactions shaping hypothalamic GnRH release.
Investigation of Specific Targeting of Triptorelin-Conjugated Dextran-Coated Magnetite Nanoparticles as a Targeted Probe in GnRH(+) Cancer Cells in MRI.
Title: Investigation of Specific Targeting of Triptorelin-Conjugated Dextran-Coated Magnetite Nanoparticles as a Targeted Probe in GnRH(+) Cancer Cells in MRI.
Expression of Luteinizing Hormone-Releasing Hormone (LHRH) and Type-I LHRH Receptor in Transitional Cell Carcinoma Type of Human Bladder Cancer.
Title: Expression of Luteinizing Hormone-Releasing Hormone (LHRH) and Type-I LHRH Receptor in Transitional Cell Carcinoma Type of Human Bladder Cancer.
High expression of LHRH is associated with ovarian cancer.
Title: Enhanced therapeutic efficacy of LHRHa-targeted brucea javanica oil liposomes for ovarian cancer.
Modeling and high-throughput experimental data uncover the mechanisms underlying Fshb gene sensitivity to gonadotropin-releasing hormone pulse frequency
Title: Modeling and high-throughput experimental data uncover the mechanisms underlying Fshb gene sensitivity to gonadotropin-releasing hormone pulse frequency.
GNRH (and GNRHR) are expressed in trophoblast cell populations and fallopian tube epithelium at tubal ectopic pregnancy sites.
Title: Gonadotropin-releasing hormone and gonadotropin-releasing hormone receptor are expressed at tubal ectopic pregnancy implantation sites.
High LHRH expression is associated with sarcomas of bone and soft tissue.
Title: LHRH receptor expression in sarcomas of bone and soft tissue.

Submit: New GeneRIF Correction See all GeneRIFs (95)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypogonadotropic hypogonadism 12 with or without anosmia MedGen: C1856897 OMIM: 614841 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs
Hypogonadotropic hypogonadism 7 with or without anosmia MedGen: C0342384 OMIM: 146110 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482389

D8S1916 (e-PCR)
- UniSTS:54113

SHGC-31262 (e-PCR)
- UniSTS:72821

GDB:181593 (e-PCR)
- UniSTS:155300

WI-18854 (e-PCR)
- UniSTS:68265

NoName (e-PCR)
- UniSTS:494531

NoName (e-PCR)
- UniSTS:489678

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gonadotropin hormone-releasing hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables gonadotropin-releasing hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables hormone activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of neuron migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in regulation of ovarian follicle development	IEA Inferred from Electronic Annotation more info
involved_in reproductive process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to steroid hormone	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: progonadoliberin-1

Names: GnRH-associated peptide 1; gonadotropin-releasing hormone 1 (luteinizing-releasing hormone); leuteinizing-releasing hormone; luliberin I; prolactin release-inhibiting factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016457.1 RefSeqGene

Range

5780..10783

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000825.3 → NP_000816.4 progonadoliberin-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_000816.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This isoform (1) may undergo proteolytic processing similar to isoform (2).

Source sequence(s)

AL047164, BC067290, CB243067

Related

ENSP00000276414.4, ENST00000276414.4
NM_001083111.2 → NP_001076580.1 progonadoliberin-1 isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001076580.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs at the 5' end compared to variant 1, which results in translation initiation from an in-frame downstream start codon, and an isoform (2) with a shorter N-terminus compared to isoform 1.

Source sequence(s)

BC067290, CB243067, M12578

Consensus CDS

CCDS43725.1

UniProtKB/Swiss-Prot

A0AVP0, P01148

Related

ENSP00000391280.2, ENST00000421054.7