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GNRH1 Gene

protein-coding   GIFtS: 63
GCID: GC08M025276

Gonadotropin-Releasing Hormone 1 (Luteinizing-Releasing...

(Previous name: gonadotropin-releasing hormone 1 (leutinizing-releasing...)
(Previous symbols: GRH, GNRH, LHRH)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Gonadotropin-Releasing Hormone 1 (Luteinizing-Releasing Hormone)1 2     HH122 5
GNRH1 2 3     LNRH2 5
GRH1 2 3     GnRH-Associated Peptide 12
LHRH1 2 3     Luliberin I2
Gonadotropin-Releasing Hormone 1 (Leutinizing-Releasing Hormone)1 2     progonadoliberin-12
Progonadoliberin I2 3     Prolactin Release-Inhibiting Factor2

External Ids:    HGNC: 44191   Entrez Gene: 27962   Ensembl: ENSG000001474377   OMIM: 1527605   UniProtKB: P011483   

Export aliases for GNRH1 gene to outside databases

Previous GC identifers: GC08M025048 GC08M025630 GC08M025298 GC08M025332 GC08M023821


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GNRH1 Gene:
The protein encoded by this gene is secreted and then cleaved to form the 10 aa luteinizing hormone-releasing
hormone (LHRH, also known as gonadoliberin-1), and prolactin release-inhibiting factor (also known as
GnRH-associated peptide 1). LHRH stimulates the release of luteinizing and follicle stimulating hormones, which
are important for reproduction. Mutation in this gene are associated with hypogonadotropic hypogonadism.
Alternatively spliced transcript variants have been described for this gene. (provided by RefSeq, Jul 2012)

GeneCards Summary for GNRH1 Gene:
GNRH1 (gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)) is a protein-coding gene. Diseases associated with GNRH1 include pituitary apoplexy, and hypogonadotropic hypogonadism 12 with or without anosmia. GO annotations related to this gene include gonadotropin hormone-releasing hormone activity and hormone activity.

UniProtKB/Swiss-Prot: GON1_HUMAN, P01148
Function: Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and
follicle-stimulating hormones

Gene Wiki entry for GNRH1 (Gonadotropin-releasing hormone) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_167187.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNRH1 gene promoter:
         GR   Sp1   AP-1   ATF-2   GR-beta   CREB   deltaCREB   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNRH1 promoter sequence
   Search Chromatin IP Primers for GNRH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNRH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21-p11.2   Ensembl cytogenetic band:  8p21.2   HGNC cytogenetic band: 8p21-p11.2

GNRH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNRH1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M025276:  view genomic region     (about GC identifiers)

Start:
25,276,774 bp from pter      End:
25,282,556 bp from pter
Size:
5,783 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GON1_HUMAN, P01148 (See protein sequence)
Recommended Name: Progonadoliberin-1 precursor  
Size: 92 amino acids; 10380 Da
Secondary accessions: A0AVP0

Explore the universe of human proteins at neXtProt for GNRH1: NX_P01148

Explore proteomics data for GNRH1 at MOPED


See GNRH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_000816.4  NP_001076580.1  

ENSEMBL proteins: 
 ENSP00000391280   ENSP00000276414  
Reactome Protein details: P01148

GNRH1 Human Recombinant Protein Products:

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Novus Biologicals GNRH1 Proteins
Novus Biologicals GNRH1 Lysates
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Browse Sino Biological Cell Lysates
ProSpec Recombinant Protein for GNRH1
Browse Proteins at Cloud-Clone Corp.

GNRH1 Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of GNRH1
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Novus Biologicals GNRH1 Antibodies
Abcam antibodies for GNRH1
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ThermoFisher Antibodies for GNRH1
LSBio Antibodies in human, mouse, rat for GNRH1

GNRH1 Assay Products:

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GenScript Custom Assay Services for GNRH1
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Browse ELISAs at Cloud-Clone Corp.
Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ENDOLIG: Endogenous ligands

3 InterPro protein domains:
 IPR019792 Gonadoliberin_I
 IPR004079 Gonadoliberin_I_precursor
 IPR002012 GnRH

Graphical View of Domain Structure for InterPro Entry P01148

ProtoNet protein and cluster: P01148

1 Blocks protein domain: IPB004079 Gonadoliberin I precursor signature

UniProtKB/Swiss-Prot: GON1_HUMAN, P01148
Similarity: Belongs to the GnRH family


GNRH1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: GON1_HUMAN, P01148
Function: Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and
follicle-stimulating hormones

     Genatlas biochemistry entry for GNRH1:
gonadotropin releasing hormone 1,decapeptide expressed in hypothalamus,releasing form,involved in the regulation
of reproduction,including a GNRH-associated peptide

     Summary: 
During embryonic development, GNRH1 as signaling molecule is secreted from the following cells:
            
Placenta: Villous Cytotrophoblast Cells (Chorionic Villus)

It affects the following cells:
Placenta: Syncytiotrophoblast Multinuclear Cells (Chorionic Villus)

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005179hormone activity TAS2863757
GO:0005183gonadotropin hormone-releasing hormone activity IEA--
     
GNRH1 for ontologies           About GeneDecksing


Phenotypes:
     14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gnrh1):
 digestive/alimentary  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
 immune system  integument  liver/biliary system  nervous system  normal 
 renal/urinary system  reproductive system  skeleton  tumorigenesis 

GNRH1 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNRH1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GNRH1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNRH1
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNRH1

miRNA
Products:
    
miRTarBase miRNAs that target GNRH1:
hsa-mir-192-5p (MIRT026258), hsa-mir-215-5p (MIRT024742)

Block miRNA regulation of human, mouse, rat GNRH1 using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate GNRH1:
hsa-miR-1237 hsa-miR-891b
SwitchGear 3'UTR luciferase reporter plasmidGNRH1 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for GNRH1
Predesigned siRNA for gene silencing in human, mouse, rat GNRH1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for GNRH1

Clone
Products:
     
OriGene clones in human, mouse for GNRH1 (see all 11)
OriGene ORF clones in mouse, rat for GNRH1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): GNRH1 (NM_000825)
Sino Biological Human cDNA Clone for GNRH1
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNRH1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNRH1

Cell Line
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GenScript Custom overexpressing Cell Line Services for GNRH1
Browse ESI BIO Cell Lines and PureStem Progenitors for GNRH1 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNRH1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
GON1_HUMAN, P01148: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
nucleus3
cytosol2
endoplasmic reticulum2
mitochondrion2
plasma membrane2
cytoskeleton1
golgi apparatus1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region TAS--
GO:0005615extracellular space IEA--

GNRH1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for GNRH1 About   (see all 20)  
See pathways by source

SuperPathSelected contained pathways About (see all per SuperPath)
1Apoptotic Pathways in Synovial Fibroblasts
Mitochondrial Apoptosis0.85
Rac1 Pathway0.65
Cellular Apoptosis Pathway0.85
Glioma Invasiveness0.64
Apoptotic Pathways in Synovial Fibroblasts0.84
Actin-Based Motility by Rho Family GTPases0.62
p53 Mediated Apoptosis0.84
ERK5 Signaling0.61
2GPCR Pathway
Ras Pathway0.73
Breast Cancer Regulation by Stathmin10.58
Paxillin Interactions0.73
NFAT in Immune Response0.58
GPCR Pathway0.62
Estrogen Pathway0.55
Pancreatic Adenocarcinoma0.59
3ERK Signaling
Rho Family GTPases0.61
Molecular Mechanisms of Cancer0.51
ERK Signaling0.61
ILK Signaling0.49
MAPK Signaling0.58
4Nanog in Mammalian ESC Pluripotency
Nanog in Mammalian ESC Pluripotency0.61
14-3-3 Induced Intracellular Signaling0.59
GSK3 Signaling0.61
eNOS Signaling0.48
5TGF-Beta Pathway
TGF-Beta Pathway0.60
JAK-STAT Pathway0.57
MAPK Family Pathway0.60
JNK Pathway0.51

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNRH1 (see all 56)
    Nuclear Receptor Activation by Vitamin-A
Paxillin Interactions
Telomerase Components in Cell Signaling
Mitochondrial Apoptosis
Molecular Mechanisms of Cancer

1 BioSystems Pathway for GNRH1
    Nongenotropic Androgen signaling


2 Reactome Pathways for GNRH1
    Hormone ligand-binding receptors
G alpha (q) signalling events


1 Kegg Pathway  (Kegg details for GNRH1):
    GnRH signaling pathway


GNRH1 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Arrays including GNRH1: 
          Prostate Cancer in human mouse rat
          Tumor Metastasis in human mouse rat

Interactions:

    GeneGlobe Interaction Network for GNRH1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for GNRH1 (P011483 ENSP000002764144) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
InteractantInteraction Details
GeneCardExternal ID(s)
SRSF7Q166293, ENSP000003259054I2D: score=1 STRING: ENSP00000325905
GNRHRP309683, ENSP000002264134I2D: score=1 STRING: ENSP00000226413
MEP1AQ168193, ENSP000002305884I2D: score=2 STRING: ENSP00000230588
TRA2AQ135953, ENSP000002970714I2D: score=1 STRING: ENSP00000297071
ADRA1BENSP000003066624STRING: ENSP00000306662
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Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007165signal transduction TAS8692981
GO:0007267cell-cell signaling TAS1310542
GO:0007275multicellular organismal development TAS2867548
GO:0007565female pregnancy IEA--
GO:0008285negative regulation of cell proliferation TAS10832105

GNRH1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for GNRH1 (GON1)

UniProtKB/Swiss-Prot: GON1_HUMAN, P01148
Pharmaceutical: Available under the names Factrel (Ayerst Labs), Lutrepulse or Lutrelef (Ferring Pharmaceuticals)
and Relisorm (Serono). Used in evaluating hypothalamic-pituitary gonadotropic function

Selected Novoseek inferred chemical compound relationships for GNRH1 gene (see all 123)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
gnrh 98.9 15911 19821328 (18), 20179668 (17), 18843661 (16), 7628381 (14) (see all 99)
cetrorelix 91.6 136 15248835 (5), 9376196 (3), 19761413 (3), 14567887 (3) (see all 70)
buserelin 89.5 103 7819707 (3), 1320049 (3), 17174489 (2), 9533651 (2) (see all 69)
ganirelix 83.3 36 15018588 (3), 15916659 (2), 10875855 (2), 15343256 (2) (see all 21)
degarelix 82.5 18 15139513 (3), 19503784 (3), 19602868 (2), 16222784 (2) (see all 11)
goserelin 82.5 65 1320049 (3), 15921744 (2), 2140542 (2), 7657737 (2) (see all 46)
leuprolide acetate 82.2 54 7819707 (2), 15237711 (2), 2106110 (1), 8209669 (1) (see all 40)
antide 81.9 44 2245840 (3), 9887238 (2), 15333605 (2), 9788600 (2) (see all 22)
leuprolide 81.9 51 7533699 (4), 1794035 (3), 17847754 (2), 19161930 (2) (see all 35)
testosterone 80.8 420 10071824 (5), 8252838 (4), 8733005 (4), 10875642 (4) (see all 99)



GNRH1 for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for GNRH1 gene (2 alternative transcripts): 
NM_000825.3  NM_001083111.1  

Unigene Cluster for GNRH1:

Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
Hs.82963  [show with all ESTs]
Unigene Representative Sequence: NM_000825
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000421054 ENST00000276414(uc003xem.4 uc003xen.4)

miRNA
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Block miRNA regulation of human, mouse, rat GNRH1 using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate GNRH1:
hsa-miR-1237 hsa-miR-891b
SwitchGear 3'UTR luciferase reporter plasmidGNRH1 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for GNRH1
Predesigned siRNA for gene silencing in human, mouse, rat GNRH1
Clone
Products:
     
OriGene clones in human, mouse for GNRH1 (see all 11)
OriGene ORF clones in mouse, rat for GNRH1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): GNRH1 (NM_000825)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNRH1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNRH1
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for GNRH1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GNRH1
  QuantiTect SYBR Green Assays in human, mouse, rat GNRH1
  QuantiFast Probe-based Assays in human, mouse, rat GNRH1

Additional mRNA sequence: 

BC067290.1 BC126437.1 BC126463.1 M12578.1 X01059.1 

4 DOTS entries:

DT.107878  DT.91756513  DT.95156698  DT.75169631 

Selected AceView cDNA sequences (see all 39):

BE467538 AA418885 BC067290 AI457202 W05214 AI290681 AL706041 AW296153 
AA418886 M12578 NM_000825 CD517130 CF552535 CB243067 N74305 X01059 
BX508951 BX508966 AA831002 AL047164 BF511936 AI807723 CB269203 AI014477 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GNRH1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACTTAAGTAT
GNRH1 Expression
About this image


GNRH1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Placenta (Extraembryonic Tissues)
         Syncytiotrophoblast Multinuclear Cells Chorionic Villus
GNRH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GNRH1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.82963
    Pathway & Disease-focused RT2 Profiler PCR Arrays including GNRH1: 
          Prostate Cancer in human mouse rat
          Tumor Metastasis in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for GNRH1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GNRH1
QuantiTect SYBR Green Assays in human, mouse, rat GNRH1
QuantiFast Probe-based Assays in human, mouse, rat GNRH1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNRH1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for GNRH1 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gnrh11 , 5 gonadotropin releasing hormone 11, 5 80.15(n)1
74.16(a)1
  14 (34.66 cM)5
147141  NM_008145.21  NP_032171.11 
 677452295 
chicken
(Gallus gallus)
Aves GNRH16
Gallus gallus gonadotropin-releasing hormone 1 (lu...
50(a)
1 ↔ 1
22(827828-830831)


ENSEMBL Gene Tree for GNRH1 (if available)
TreeFam Gene Tree for GNRH1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for GNRH1 (see all 152)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1439484761,2
C--23822876(+) CACTC-/ACAAAA 2 -- int10--------
rs61505141,2
C--23822877(+) actcc-/AGCCTGGCAACAGA
GCGAGACTCCGTCTCAA
AAAAA
2 -- int10--------
rs1463527281,2
C--23824496(+) GTTGT-/AAAAAA 2 -- int10--------
rs746091121,2
--23828743(+) ACACAA/CACACA 2 -- us2k10--------
rs561590161,2
C,F--25512477(+) GAGACG/AATCAA 2 -- ds50018Minor allele frequency- A:0.37WA NA CSA EA 368
rs286652831,2
C,F,H--25512778(+) TCCCCC/TGGAGT 2 -- ds50016Minor allele frequency- T:0.03NS NA CSA WA 810
rs1851855081,2
--25512986(+) AAATCA/TTCTTC 4 K M mis10--------
rs1465231041,2
C--25513020(+) ACTTTC/GCTGAA 4 Q E mis10--------
rs2005152881,2
--25513063(+) ACCAGA/CTGAAT 2 -- int10--------
rs1404582591,2
--25513106(+) TATCAC/GTCTGG 2 -- int10--------

HapMap Linkage Disequilibrium report for GNRH1 (25276774 - 25282556 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for GNRH1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv6125CNV Insertion18451855
nsv890689CNV Gain21882294
essv1351CNV CNV17122850

Human Gene Mutation Database (HGMD): GNRH1
Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 152760   
OMIM disorders: 614841  
UniProtKB/Swiss-Prot: GON1_HUMAN, P01148
  • Hypogonadotropic hypogonadism 12 with or without anosmia (HH12) [MIM:614841]: 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). Note=The disease is caused by mutations
    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)

  • Selected diseases for GNRH1 (see all 146):    
    About MalaCards
    pituitary apoplexy    hypogonadotropic hypogonadism 12 with or without anosmia    sexual disorder    secondary central precocious puberty
    catamenial pneumothorax    orbital leiomyoma    gnrh1-related isolated gonadotropin-releasing hormone deficiency    anovulation
    myoma    ovarian disease    endometriosis    ovarian cyst
    varicocele    hypothalamic hamartomas    isolated gonadotropin-releasing hormone deficiency    uterine fibroid
    central precocious puberty    robinow syndrome    ovarian hyperstimulation syndrome    martsolf syndrome

    Selected diseases from the University of Copenhagen DISEASES database for GNRH1 (see all 36):
    Amenorrhea     Klinefelter's syndrome     Endometriosis     Hypogonadism
    Infertility     Ovarian hyperstimulation syndrome     Polycystic ovary syndrome     Prostate cancer
    Anovulation     Hyperprolactinemia     Myoma     Cryptorchidism
    Male infertility     Leiomyoma     Hyperandrogenism     Uterine fibroid
    Hypopituitarism     Hypogonadotropism     Premature ovarian failure     Gynecomastia

    GNRH1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for GNRH1 gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    puberty precocious 86.7 108 12225246 (4), 10519330 (3), 15476332 (3), 15995342 (2) (see all 72)
    kallmann syndrome 82.5 35 8706281 (2), 8792395 (1), 10548603 (1), 8770879 (1) (see all 29)
    ovarian hyperstimulation syndrome 82.2 47 7502696 (3), 19688946 (2), 17462639 (2), 10796765 (1) (see all 32)
    hypogonadism 78.6 57 1586105 (2), 8706281 (2), 7708535 (2), 11893524 (2) (see all 40)
    polycystic ovary syndrome 76.3 67 14973957 (3), 10796718 (3), 10943580 (2), 8923867 (2) (see all 48)
    puberty delayed 73.8 13 15554892 (2), 7627337 (2), 2181393 (1), 18714650 (1) (see all 10)
    endometriosis 73.6 128 19892605 (5), 8163038 (4), 15656211 (4), 9564663 (3) (see all 70)
    gonadotropins increased 73.2 1 10193017 (1)
    infertility 69.7 43 16190907 (3), 15832483 (2), 8163038 (2), 8042461 (2) (see all 30)
    uterine leiomyoma 68.9 50 8799917 (3), 10796723 (3), 11405968 (3), 1532397 (3) (see all 32)

    Genetic Association Database (GAD): GNRH1
    Human Genome Epidemiology (HuGE) Navigator: GNRH1 (18 documents)

    Export disorders for GNRH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GNRH1 gene, integrated from 10 sources (see all 1731):
    (articles sorted by number of sources associating them with GNRH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA for precursor of human luteinizing hormone releasing hormone. (PubMed id 6090951)1, 2, 3 Seeburg P.H. and Adelman J.P. (Nature 1984)
    2. Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing. (PubMed id 15546906)1, 4, 9 Sedlmeyer I.L....Palmert M.R. (J. Clin. Endocrinol. Metab. 2005)
    3. GnRH and LHR gene variants predict adverse outcome in premenopausal breast cancer patients. (PubMed id 17692113)1, 4, 9 Piersma D....Berns E.M. (Breast Cancer Res. 2007)
    4. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. (PubMed id 19489874)1, 4, 9 Trarbach E.B....Latronico A.C. (Clin. Endocrinol. (Oxf) 2010)
    5. Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome. (PubMed id 19403562)1, 4, 9 Valkenburg O....Laven J.S. (Hum. Reprod. 2009)
    6. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. (PubMed id 19567835)1, 4, 9 Chan Y.M....Seminara S.B. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    7. Genetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). (PubMed id 19640273)1, 4, 9 Canzian F....Ziegler R.G. (BMC Cancer 2009)
    8. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    9. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    10. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (Hum. Mol. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2796 HGNC: 4419 AceView: GNRH1 Ensembl:ENSG00000147437 euGenes: HUgn2796
    ECgene: GNRH1 Kegg: 2796 H-InvDB: GNRH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GNRH1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Gonadotropin-releasing_hormone

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GNRH1 gene:
    Search GeneIP for patents involving GNRH1

    Licensable Technologies for GNRH1 gene:
    Weizmann Institute:"Modulation of Neurotransmitter Receptors on T-cell Membranes: a Novel Approach for Treatment of Autoimmune, Infectious and Malignant"
     Salk Institute: Gonadotrophin Releasing Hormone (GnRH) Analogs
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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