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GNRH1 Gene(Protein Coding)

Gonadotropin Releasing Hormone 1

GCID:
GC08M025419
GIFtS:
51
Genes Participants
UDN Logo

Aliases for GNRH1 Gene

Aliases for GNRH1 Gene

  • Gonadotropin Releasing Hormone 1 2 3 5
  • Leuteinizing-Releasing Hormone 2 3
  • Progonadoliberin-1 2 3
  • GNRH 3 4
  • LHRH 3 4
  • GRH 3 4
  • Gonadotropin-Releasing Hormone 1 (Luteinizing-Releasing Hormone) 3
  • Prolactin Release-Inhibiting Factor 3
  • GnRH-Associated Peptide 1 3
  • Progonadoliberin I 4
  • Luliberin I 3
  • LNRH 3

External Ids for GNRH1 Gene

Previous HGNC Symbols for GNRH1 Gene

  • GRH
  • GNRH
  • LHRH

Previous GeneCards Identifiers for GNRH1 Gene

  • GC08M025048
  • GC08M025630
  • GC08M025298
  • GC08M025332
  • GC08M023821
  • GC08M025276

Summaries for GNRH1 Gene

Entrez Gene Summary for GNRH1 Gene

  • 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]

GeneCards Summary for GNRH1 Gene

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 Apoptotic Pathways in Synovial Fibroblasts and PAK Pathway. Gene Ontology (GO) annotations related to this gene include hormone activity and gonadotropin hormone-releasing hormone activity.

UniProtKB/Swiss-Prot for GNRH1 Gene

  • Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.

Gene Wiki entry for GNRH1 Gene

Additional gene information for GNRH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNRH1 Gene

Genomics for GNRH1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for GNRH1 Gene

Promoters and enhancers for GNRH1 Gene
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
GH08I025424 Promoter 0.6 EPDnew 550.8 +0.8 759 0.1 PRDM6 GNRH1 GC08P025414 GC08M025389
GH08I025425 Promoter 0.5 EPDnew 550.8 +0.3 318 0.1 ENSG00000253476 GNRH1 GC08P025414 GC08M025389
GH08I025453 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 22.6 -32.2 -32198 6.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 KCTD9 CDCA2 GNRH1 ENSG00000253476 NEFM GC08P025445
GH08I025997 Enhancer 1 dbSUPER 30.5 -573.9 -573867 3 PKNOX1 FEZF1 ZNF2 ZNF121 ZNF213 ZNF302 KLF7 KLF13 SP3 YY2 GNRH1 ENSG00000253476 EBF2 KCTD9 GC08M025942
GH08I025318 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.2 +105.5 105465 3 ELF3 FOXA2 SIN3A RAD21 RARA ETS1 YY1 FOS CREM THAP11 GNRH1 CDCA2 KCTD9 GC08M025315 GC08M025303 DOCK5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GNRH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNRH1 gene promoter:

Genomic Locations for GNRH1 Gene

Genomic Locations for GNRH1 Gene
chr8:25,419,258-25,425,040
(GRCh38/hg38)
Size:
5,783 bases
Orientation:
Minus strand
chr8:25,276,774-25,282,556
(GRCh37/hg19)

Genomic View for GNRH1 Gene

Genes around GNRH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNRH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNRH1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GNRH1 Gene

Proteins for GNRH1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for GNRH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01148-GON1_HUMAN
    Recommended name:
    Progonadoliberin-1
    Protein Accession:
    P01148
    Secondary Accessions:
    • A0AVP0

    Protein attributes for GNRH1 Gene

    Size:
    92 amino acids
    Molecular mass:
    10380 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The 3D-structure was determined for the synthetic analog Triptorelin.

    Three dimensional structures from OCA and Proteopedia for GNRH1 Gene

neXtProt entry for GNRH1 Gene

Post-translational modifications for GNRH1 Gene

No Post-translational modifications

Other Protein References for GNRH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for GNRH1

No data available for DME Specific Peptides for GNRH1 Gene

Domains & Families for GNRH1 Gene

Gene Families for GNRH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for GNRH1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GNRH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01148

UniProtKB/Swiss-Prot:

GON1_HUMAN :
  • Belongs to the GnRH family.
Family:
  • Belongs to the GnRH family.
genes like me logo Genes that share domains with GNRH1: view

Function for GNRH1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for GNRH1 Gene

GENATLAS Biochemistry:
gonadotropin releasing hormone 1,decapeptide expressed in hypothalamus,releasing form,involved in the regulation of reproduction,including a GNRH-associated peptide
UniProtKB/Swiss-Prot Function:
Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.

LifeMap Function Summary for GNRH1 Gene

During embryonic development, GNRH1 as signaling molecule is secreted from the following cells
It affects the following cells:

Gene Ontology (GO) - Molecular Function for GNRH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity TAS 2863757
GO:0005183 gonadotropin hormone-releasing hormone activity TAS,IEA --
genes like me logo Genes that share ontologies with GNRH1: view
genes like me logo Genes that share phenotypes with GNRH1: view

Human Phenotype Ontology for GNRH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GNRH1 Gene

miRTarBase miRNAs that target GNRH1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for GNRH1 Gene

Localization for GNRH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNRH1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNRH1 gene
Compartment Confidence
extracellular 5
mitochondrion 3
nucleus 3
endoplasmic reticulum 3
plasma membrane 2
cytosol 2
golgi apparatus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for GNRH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005739 mitochondrion IEA --
GO:0005798 Golgi-associated vesicle IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with GNRH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNRH1 Gene

Pathways & Interactions for GNRH1 Gene

genes like me logo Genes that share pathways with GNRH1: view

Gene Ontology (GO) - Biological Process for GNRH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0007565 female pregnancy IEA --
genes like me logo Genes that share ontologies with GNRH1: view

No data available for SIGNOR curated interactions for GNRH1 Gene

Drugs & Compounds for GNRH1 Gene

Products:

  1. Drug

(91) Drugs for GNRH1 Gene - From: ApexBio, DGIdb, and Novoseek

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
Goserelin acetate Pharma GnRH receptor agonist 0

(38) Additional Compounds for GNRH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) ApexBio Compounds for GNRH1 Gene

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
Goserelin Acetate 65807-02-5
Leuprolide Acetate Pituitary GnRH receptors agonist 74381-53-6
Luteinizing hormone releasing hormone human acetate salt (LHRH) 71447-49-9
genes like me logo Genes that share compounds with GNRH1: view

Drug Products

Transcripts for GNRH1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GNRH1 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(39) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GNRH1 Gene

Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNRH1 Gene

No ASD Table

Relevant External Links for GNRH1 Gene

GeneLoc Exon Structure for
GNRH1
ECgene alternative splicing isoforms for
GNRH1

Expression for GNRH1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNRH1 Gene

mRNA expression in normal human tissues for GNRH1 Gene
mRNA expression by GTEx for GNRH1 GenemRNA expression by BioGPS for GNRH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of GNRH1 Gene:

GNRH1

SOURCE GeneReport for Unigene cluster for GNRH1 Gene:

Hs.82963

Evidence on tissue expression from TISSUES for GNRH1 Gene

  • Nervous system(4.7)
  • Blood(2.6)
  • Adrenal gland(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNRH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GNRH1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GNRH1 Gene

Orthologs for GNRH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GNRH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia GNRH1 33 34
  • 99.28 (n)
dog
(Canis familiaris)
 Mammalia GNRH1 33 34
  • 82.25 (n)
mouse
(Mus musculus)
 Mammalia Gnrh1 33 16 34
  • 80.15 (n)
cow
(Bos Taurus)
 Mammalia GNRH1 33 34
  • 78.26 (n)
rat
(Rattus norvegicus)
 Mammalia Gnrh1 33
  • 78.26 (n)
oppossum
(Monodelphis domestica)
 Mammalia GNRH1 34
  • 70 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves GNRH1 34
  • 50 (a)
 OneToOne
Species where no ortholog for GNRH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GNRH1 Gene

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

Paralogs for GNRH1 Gene

No data available for Paralogs for GNRH1 Gene

Variants for GNRH1 Gene

Sequence variations from dbSNP and Humsavar for GNRH1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1032634997 uncertain-significance, Isolated GnRH Deficiency 25,423,441(-) T/C 5_prime_UTR_variant, intron_variant
rs17790824 uncertain-significance, Isolated GnRH Deficiency 25,423,813(-) A/G 5_prime_UTR_variant, intron_variant
rs368837931 uncertain-significance, Isolated GnRH Deficiency 25,421,633(-) T/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs534899690 uncertain-significance, Isolated GnRH Deficiency 25,424,007(-) G/T 5_prime_UTR_variant, intron_variant
rs550878484 uncertain-significance, Isolated GnRH Deficiency 25,419,472(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GNRH1 Gene

Variant ID Type Subtype PubMed ID
nsv6125 CNV insertion 18451855
nsv1031153 CNV gain 25217958
esv3616666 OTHER inversion 21293372
esv2759606 CNV loss 17122850
dgv7148n100 CNV gain 25217958

Variation tolerance for GNRH1 Gene

Residual Variation Intolerance Score: 80.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.38; 63.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNRH1 Gene

Human Gene Mutation Database (HGMD)
GNRH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNRH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNRH1 Gene

Disorders for GNRH1 Gene

MalaCards: The human disease database

(69) MalaCards diseases for GNRH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 12 with or without anosmia
  • hh12
normosmic congenital hypogonadotropic hypogonadism
  • isolated congenital gonadotropin deficiency
hypogonadotropic hypogonadism
  • congenital idiopathic hypogonadotropic hypogonadism
hypogonadism
ovarian disease
  • ovarian dysfunction
- elite association - COSMIC cancer census association via MalaCards
Search GNRH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GON1_HUMAN
  • 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). {ECO:0000269 PubMed:19535795, ECO:0000269 PubMed:23643382}. 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). {ECO:0000269 PubMed:23643382}.

Additional Disease Information for GNRH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GNRH1: view

No data available for Genatlas for GNRH1 Gene

Publications for GNRH1 Gene

  1. 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). (PMID: 19640273) Canzian F … Ziegler RG (BMC cancer 2009) 3 22 44 58
  2. Characterization of cDNA for precursor of human luteinizing hormone releasing hormone. (PMID: 6090951) Seeburg PH … Adelman JP (Nature 1984) 2 3 4 58
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58
  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. (PMID: 19489874) Trarbach EB … Latronico AC (Clinical endocrinology 2010) 3 44 58
  5. 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. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 44 58

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Sources for GNRH1 Gene

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