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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]
GNRH1 (Gonadotropin Releasing Hormone 1) is a Protein Coding gene. Diseases associated with GNRH1 include Hypogonadotropic Hypogonadism 12 With Or Without Anosmia and Normosmic Congenital Hypogonadotropic Hypogonadism. Among its related pathways are Integrin Pathway and RET signaling. Gene Ontology (GO) annotations related to this gene include hormone activity and gonadotropin hormone-releasing hormone activity. An important paralog of this gene is GNRH2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH08J025424 | Promoter | 0.4 | EPDnew | 600.7 | +0.8 | 759 | 0.1 | PRDM6 | GNRH1 piR-35002-104 DOCK5 RF00017-6897 | |
GH08J025422 | Enhancer | 0.3 | Ensembl | 600.7 | +1.9 | 1939 | 1 | JUN | GNRH1 KCTD9 piR-35002-104 DOCK5 RF00017-6897 | |
GH08J025453 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 30.7 | -32.4 | -32412 | 7.1 | SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 LEF1 IKZF1 NFKBIZ | KCTD9 CDCA2 lnc-GNRH1-3 GNRH1 NEFM ENSG00000253476 RF00017-6897 | |
GH08J025997 | Enhancer | 1.1 | Ensembl dbSUPER | 30.5 | -573.8 | -573760 | 1.2 | PRDM10 ZNF629 ZNF692 PRDM1 ZIC2 ZNF776 ZSCAN4 PATZ1 ELF4 ZNF239 | GNRH1 ENSG00000253476 EBF2 KCTD9 RF00017-6902 RF00017-6903 CDCA2 | |
GH08J025329 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 18.4 | +96.1 | 96139 | 1.4 | NFE2 MAFK NR2F2 HNF4A RXRA | GNRH1 CDCA2 KCTD9 DOCK5 piR-43105-631 hsa-miR-5096-110 RF00017-6897 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005179 | hormone activity | TAS | 2863757 |
GO:0005183 | gonadotropin hormone-releasing hormone activity | TAS,IBA | 21873635 |
GO:0031530 | gonadotropin-releasing hormone receptor binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005798 | Golgi-associated vesicle | IEA | -- |
GO:0030425 | dendrite | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
5 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000003 | reproduction | IBA | 21873635 |
GO:0007165 | signal transduction | TAS | 8692981 |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
GO:0007267 | cell-cell signaling | TAS | 1310542 |
GO:0007275 | multicellular organism development | TAS | 2867548 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
GnRH pharmaccine | Investigational | Pharma | 0 | |||
leuprolide acetate | Pharma | Pituitary GnRH receptors agonist | 0 | |||
Alarelin Acetate | Pharma | Synthetic GnRH agonist | 0 | |||
GnRH Associated Peptide (GAP) (1-13), human | Pharma | Asp-Ala-Glu-Asn-Leu-Ile-Asp-Ser-Phe-Gln-Glu-Ile-Val | 0 | |||
Luteinizing hormone releasing hormone human acetate salt (LHRH) | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Alarelin Acetate | Synthetic GnRH agonist | 79561-22-1 |
GnRH Associated Peptide (GAP) (1-13), human | Asp-Ala-Glu-Asn-Leu-Ile-Asp-Ser-Phe-Gln-Glu-Ile-Val | 100111-07-7 |
Leuprolide Acetate | Pituitary GnRH receptors agonist | 74381-53-6 |
Luteinizing hormone releasing hormone human acetate salt (LHRH) | 71447-49-9 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GNRH1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GNRH1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gnrh1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gnrh1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | GNRH1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GNRH1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GNRH1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
734969 | Conflicting Interpretations: Hypogonadotropic hypogonadism 12 with or without anosmia; not provided | 25,423,190(-) | C/G | MISSENSE_VARIANT | |
773401 | Benign: not provided | 25,419,460(-) | C/G | MISSENSE_VARIANT | |
788272 | Benign: Hypogonadotropic hypogonadism 12 with or without anosmia; not provided | 25,421,627(-) | G/A | SYNONYMOUS_VARIANT | |
908878 | Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia | 25,424,142(-) | C/A | FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
908879 | Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia | 25,424,326(-) | G/C | FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv7148n100 | CNV | gain | 25217958 |
esv2759606 | CNV | loss | 17122850 |
esv3616666 | OTHER | inversion | 21293372 |
nsv1031153 | CNV | gain | 25217958 |
nsv6125 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypogonadotropic hypogonadism 12 with or without anosmia |
|
|
normosmic congenital hypogonadotropic hypogonadism |
|
|
hypogonadism |
|
|
hypogonadotropic hypogonadism 7 with or without anosmia |
|
|
hypogonadotropic hypogonadism |
|