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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

Aliases
Gonadotropin-Releasing Hormone 1 (Luteinizing-Releasing Hormone)1 2     LNRH2 5
GNRH1 2 3     HH122
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 ovarian disease, and myoma, and among its related super-pathways are Rac1 Pathway and Ras Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_167187.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GNRH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GON1_HUMAN, P01148 (See protein sequence)
Recommended Name: Progonadoliberin-1 precursor  
Size: 92 amino acids; 10380 Da
Subcellular location: Secreted
Secondary accessions: A0AVP0

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

Explore proteomics data for GNRH1 at MOPED 

GNRH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

GNRH1 Protein Expression

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

ENSEMBL proteins: 
 ENSP00000391280   ENSP00000276414  
Reactome Protein details: P01148
Human Recombinant Protein Products for GNRH1: 
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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. 

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

GNRH1 for ontologies           About GeneDecksing



GNRH1 Antibody Products: 
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LSBio Antibodies in human, mouse, rat for GNRH1 

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Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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: Villous Cytotrophoblast Cells in Chorionic Villus It affects the following cells: Syncytiotrophoblast Multinuclear Cells in Chorionic Villus

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    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:
     15 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gnrh1):
 cellular  digestive/alimentary  endocrine/exocrine gland  growth/size  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 - Custom generated mouse model solutions for GNRH1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GNRH1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNRH1 
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miRNA
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hsa-miR-1237 hsa-miR-891b
SwitchGear 3'UTR luciferase reporter plasmidGNRH1 3' UTR sequence
Inhib. RNA
Products:
    
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OriGene RNAi products in human, mouse, rat for GNRH1
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Gene Editing
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Clone
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GenScript: all cDNA clones in your preferred vector (see all 2): GNRH1 (NM_000825)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNRH1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNRH1
Sirion Biotech Customized lentivirus for stable overexpression of GNRH1 
                     Customized lentivirus expression plasmids for stable overexpression of GNRH1 

Cell Line
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GenScript Custom overexpressing Cell Line Services for GNRH1
Search LifeMap BioReagents cell lines for GNRH1
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNRH1


(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

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
3Rho Family GTPases
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

5/56 Downloadable PowerPoint Slides of QIAGEN 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


5/8        Reactome Pathways for GNRH1 (see all 8)
    GPCR downstream signaling
Gastrin-CREB signalling pathway via PKC and MAPK
Signaling by GPCR
GPCR ligand binding
Class A/1 (Rhodopsin-like receptors)


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


GNRH1 for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GNRH1

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

5/127 Interacting proteins for GNRH1 (P011483 ENSP000002764144) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
InteractantInteraction Details
GeneCardExternal ID(s)
GNRHRP309683, ENSP000002264134I2D: score=1 STRING: ENSP00000226413
MEP1AQ168193, ENSP000002305884I2D: score=2 STRING: ENSP00000230588
TRA2AQ135953, ENSP000002970714I2D: score=1 STRING: ENSP00000297071
SRSF7Q166293I2D: score=1 
ADRA1BENSP000003066624STRING: ENSP00000306662
About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007165signal transduction TAS8692981
GO:0007267cell-cell signaling TAS1310542
GO:0007275multicellular organismal development IEA--
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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GNRH1 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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

10/123 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)

Search CenterWatch for drugs/clinical trials and news about GNRH1 / GON1

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)

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2 QIAGEN miScript miRNA Assays for microRNAs that regulate GNRH1:
hsa-miR-1237 hsa-miR-891b
SwitchGear 3'UTR luciferase reporter plasmidGNRH1 3' UTR sequence
Inhib. RNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNRH1
Sirion Biotech Customized lentivirus for stable overexpression of GNRH1 
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  QIAGEN 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 

24/39 AceView cDNA sequences (see all 39):

BE467538 AI290681 BC067290 M12578 AA418885 AA418886 AL706041 AI457202 
W05214 AW296153 AA043996 BF511931 AL047164 BX104967 AI014477 BX508966 
NM_000825 BF511936 X01059 AA831002 BX508951 CB243067 CF552535 N74305 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GNRH1 expression in normal human tissues (normalized intensities)      GNRH1 embryonic expression: see
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 
 5/1 selected tissues (see all 1) fully expand
 
 Placenta (Extraembryonic Tissues)
         Syncytiotrophoblast Multinuclear Cells Chorionic Villus

See GNRH1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GNRH1

SOURCE GeneReport for Unigene cluster: Hs.82963
    SABiosciences Expression via Pathway-Focused PCR Arrays including GNRH1: 
          Prostate Cancer in human mouse rat
          Tumor Metastasis in human mouse rat

Primer
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QIAGEN 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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GNRH1 gene from 2/7 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 GNRH-I6
Progonadoliberin-1 Gonadoliberin-1 GnRH-associated...
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)
About This Section
  --

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/151 SNPs in GNRH1 are shown (see all 151)    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
SABiosciences Cancer Mutation 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.)
About This Section
OMIM gene information: 152760   
OMIM disorders: 227200  
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 the gene represented in this entry

  • 20/142 diseases for GNRH1 (see all 142):    About MalaCards
    ovarian disease    myoma    pituitary apoplexy    anovulation
    sexual disorder    isolated gonadotropin-releasing hormone deficiency    secondary central precocious puberty    catamenial pneumothorax
    orbital leiomyoma    gnrh1-related isolated gonadotropin-releasing hormone deficiency    hypogonadotropic hypogonadism due to gnrh deficiency    endometriosis
    central precocious puberty    varicocele    uterine fibroid    idiopathic central precocious puberty
    ovarian hyperstimulation syndrome    robinow syndrome    martsolf syndrome    endometriosis of ovary

    20/36 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

    10/92 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)
    About This Section

    PubMed articles for GNRH1 gene, integrated from 9 sources (see all 1723):
    (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. (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. (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. (2007)
    4. 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. (2009)
    5. GNRH1 mutations in patients with idiopathic hypogonad otropic hypogonadism. (PubMed id 19567835)1, 4, 9 Chan Y.M....Seminara S.B. (2009)
    6. Screening of autosomal gene deletions in patients wit h hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplif ication: detection of a hemizygosis for the fibroblast growth factor receptor 1 . (PubMed id 19489874)1, 4, 9 Trarbach E.B....Latronico A.C. (2009)
    7. Genetic polymorphisms of the GNRH1 and GNRHR genes an d risk of breast cancer in the National Cancer Institute Breast and Prostate Ca ncer Cohort Consortium (BPC3). (PubMed id 19640273)1, 4, 9 Canzian F....Ziegler R.G. (2009)
    8. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (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. (2010)
    10. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolis m and breast cancer risk in the NCI breast and prostate cancer cohort consortiu m. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (2010)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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