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

    Gene ID: 2796, updated on 27-Nov-2024

    Summary

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    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

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    See GNRH1 in Genome Data Viewer
    Location:
    8p21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (25419258..25425040, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (25694484..25700266, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (25276774..25282556, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27123 Neighboring gene Sharpr-MPRA regulatory region 6380 Neighboring gene uncharacterized LOC105379331 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:25217237-25217846 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:25217847-25218454 Neighboring gene microRNA 6876 Neighboring gene Sharpr-MPRA regulatory region 10380 Neighboring gene uncharacterized LOC124901913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19036 Neighboring gene potassium channel tetramerization domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27125 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:25336688-25337887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:25338615-25339116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:25339117-25339616 Neighboring gene cell division cycle associated 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:25348932-25349432 Neighboring gene Sharpr-MPRA regulatory region 1118

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Role of gonadotropin-releasing hormone (GnRH) in ovarian cancer. Gründker C, et al. Reprod Biol Endocrinol, 2003 Oct 7. PMID 14594454, Free PMC Article
    2. Regulation of gonadotropin-releasing hormone neurons by glucose. Roland AV, et al. Trends Endocrinol Metab, 2011 Nov. PMID 21855365, Free PMC Article
    3. A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency. Chan YM. Mol Cell Endocrinol, 2011 Oct 22. PMID 21722705, Free PMC Article
    4. Patients with irritable bowel syndrome and dysmotility express antibodies against gonadotropin-releasing hormone in serum. Ohlsson B, et al. Neurogastroenterol Motil, 2011 Nov. PMID 21714833
    5. Persistence of sleep-associated decrease in GnRH pulse frequency in the absence of gonadal steroids. Shaw ND, et al. J Clin Endocrinol Metab, 2011 Aug. PMID 21646369, Free PMC Article

    See all (132) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.
      Title: Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.
    2. New Horizons: Gonadotropin-Releasing Hormone and Cognition.
      Title: New Horizons: Gonadotropin-Releasing Hormone and Cognition.
    3. History of Puberty: Normal and Precocious.
      Title: History of Puberty: Normal and Precocious.
    4. 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.
    5. The KiNG of reproduction: Kisspeptin/ nNOS interactions shaping hypothalamic GnRH release.
      Title: The KiNG of reproduction: Kisspeptin/ nNOS interactions shaping hypothalamic GnRH release.
    6. 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.
    7. 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.
    8. High expression of LHRH is associated with ovarian cancer.
      Title: Enhanced therapeutic efficacy of LHRHa-targeted brucea javanica oil liposomes for ovarian cancer.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (96)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

    1. NG_016457.1 RefSeqGene

      Range
      5780..10783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      25419258..25425040 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      25694484..25700266 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01148.1 GenPept UniProtKB/Swiss-Prot:P01148

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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