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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 relea... See more...
Aliases for GNRH1 Gene
Aliases for GNRH1 Gene
External Ids for GNRH1 Gene
- HGNC: 4419
- NCBI Entrez Gene: 2796
- Ensembl: ENSG00000147437
- OMIM®: 152760
- UniProtKB/Swiss-Prot: P01148
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
-
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 Nanog in Mammalian ESC Pluripotency and Signaling by GPCR. 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.
UniProtKB/Swiss-Prot Summary for GNRH1 Gene
-
Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.
Additional gene information for GNRH1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNRH1 Gene
Genomics for GNRH1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GNRH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GNRH1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNRH1
- Top Transcription factor binding sites by QIAGEN in the GNRH1 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- CREB
- deltaCREB
- GR
- GR-alpha
- GR-beta
- Sp1
Genomic Locations for GNRH1 Gene
Latest Assembly
- chr8:25,419,258-25,425,040
- (GRCh38/hg38)
- Size:
- 5,783 bases
- Orientation:
- Minus strand
Previous Assembly
- chr8:25,276,774-25,282,556
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 5,783 bases
- Orientation:
- Minus strand
Genomic View for GNRH1 Gene
Genes around GNRH1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p21.2 by HGNC
- 8p21.2 by Entrez Gene
- 8p21.2 by Ensembl
GNRH1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GNRH1 Gene
Proteins for GNRH1 Gene
-
Protein details for GNRH1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P01148-GON1_HUMAN
- Recommended name:
- Progonadoliberin-1
- Protein Accession:
- P01148
- 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.
Post-translational modifications for GNRH1 Gene
No Post-translational modifications
Other Protein References for GNRH1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ GnRH I Antibody
- RayBiotech Rabbit anti-Gn-RH antibody
-
Custom Antibody ServicesOriGene Antibodies for GNRH1
- Novus Biologicals Antibodies for GNRH1
-
Abcam antibodies for GNRH1
- Invitrogen Antibodies for GNRH1 (AFLGC-GNRH1)
- antibodies-online: Show 37 available GNRH1 Antibodies ranked by validation data
- Compare Top GNRH1 Antibodies
-
Recommended
- 37 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 16 IHC (p) Antibodies (anti-human)
- 12 IHC Antibodies (anti-human)
- 6 RIA Antibodies (anti-human)
- 16 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 16 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for GNRH1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GNRH1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for GNRH1
- Origene Custom Protein Services for GNRH1
- ProSpec Recombinant Proteins for GNRH1
-
Abcam proteins for GNRH1
Assay products for research
- antibodies-online: Show 105 available GNRH1 Elisa Kits ranked by validation data
- Compare Top GNRH1 Elisa Kits
-
Quality Products:
- ABIN4947620
- ABIN415019
- ABIN5524681
- ABIN5524680
- ABIN455247
- ABIN366526
- ABIN1028751
- ABIN510467
- ABIN5594683
- ABIN770916
- ABIN424258
- ABIN367809
- ABIN773367
- ABIN1115816
- ABIN5524683
- ABIN1570091
- ABIN627900
- ABIN5594684
- ABIN6135458
- ABIN1115817
- ABIN3155748
- ABIN5524684
- ABIN368074
- ABIN627086
- ABIN1570092
- ABIN5594685
- ABIN772024
- ABIN5654793
- ABIN364857
- ABIN2870373
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:
-
- Gonadoliberin I precursor signature
Suggested Antigen Peptide Sequences for GNRH1 Gene
- GenScript: Design optimal peptide antigens:
-
- Progonadoliberin I (GON1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P01148- Family:
-
- Belongs to the GnRH family.
Function for GNRH1 Gene
Molecular function for GNRH1 Gene
- UniProtKB/Swiss-Prot Function:
- Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.
- GENATLAS Biochemistry:
- gonadotropin releasing hormone 1,decapeptide expressed in hypothalamus,releasing form,involved in the regulation of reproduction,including a GNRH-associated peptide
LifeMap Function Summary for GNRH1 Gene
During embryonic development, GNRH1 as signaling molecule is secreted from the following cells
- Placenta
It affects the following cells:
- Placenta
Phenotypes From GWAS Catalog 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,IBA | 21873635 |
| GO:0031530 | gonadotropin-releasing hormone receptor binding | IBA | 21873635 |
Phenotypes for GNRH1 Gene
- MGI mutant phenotypes for GNRH1:
-
inferred from 3 alleles
- normal phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- immune system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- skeleton phenotype
- integument phenotype
- GenomeRNAi human phenotypes for GNRH1:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GNRH1 - Starting at $85 >
- * GNRH1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GNRH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GNRH1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GNRH1
miRNA for GNRH1 Gene
- miRTarBase miRNAs that target GNRH1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GNRH1
- Browse OriGene Inhibitory RNA Products For GNRH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNRH1
Clone products for research
- Applied Biological Materials (abm): Clones for GNRH1 - Starting at $45 >
- * GNRH1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GNRH1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GNRH1
Cell Lines for research
-
Horizon Cell Lines for GNRH1
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNRH1 Gene
Pathways & Interactions for GNRH1 Gene
| 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
.61
Nanog in Mammalian ESC Pluripotency
.61
|
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
|
Pathways by source for GNRH1 Gene
1 BioSystems pathway for GNRH1 Gene
3 KEGG pathways for GNRH1 Gene
56 Qiagen pathways for GNRH1 Gene
- 14-3-3 Induced Intracellular Signaling
- Actin-Based Motility by Rho Family GTPases
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- Activation of PKC through GPCR
Interacting Proteins for GNRH1 Gene
GPS-Prot Interaction Network for GNRH1
SIGNOR curated interactions for GNRH1 Gene
| 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 |
Drugs & Compounds for GNRH1 Gene
| 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 |
|---|
(4) 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 |
| Leuprolide Acetate | Pituitary GnRH receptors agonist | 74381-53-6 |
| Luteinizing hormone releasing hormone human acetate salt (LHRH) | 71447-49-9 |
Transcripts for GNRH1 Gene
mRNA/cDNA for GNRH1 Gene
- 2 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000276414 1760 nts (view in UCSC)
- ENST00000421054 502 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GNRH1 - Starting at $85 >
- * GNRH1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GNRH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GNRH1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GNRH1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GNRH1
- Browse OriGene Inhibitory RNA Products For GNRH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNRH1
Clone products for research
- Applied Biological Materials (abm): Clones for GNRH1 - Starting at $45 >
- * GNRH1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GNRH1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GNRH1
Relevant External Links for GNRH1 Gene
- GeneLoc Exon Structure for
- GNRH1
Expression for GNRH1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Placenta (Extraembryonic Tissues)
- Syncytiotrophoblast Multinuclear Cells Chorionic Villus
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNRH1
SOURCE GeneReport for Unigene cluster for GNRH1 Gene:
Hs.82963Evidence on tissue expression from TISSUES for GNRH1 Gene
- Nervous system(4.6)
- Blood(2.6)
- Adrenal gland(2.6)
- Skin(2.4)
- Thyroid gland(2.3)
- Muscle(2.2)
- Lung(2.1)
- Pancreas(2)
- Liver(2)
- Kidney(2)
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
Primer products for research
-
OriGene qPCR primer pairs for GNRH1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GNRH1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GNRH1 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gnrh1 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gnrh1 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | GNRH1 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GNRH1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GNRH1 30 |
|
OneToOne |
- Species where no ortholog for GNRH1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for GNRH1: view image
- Alliance of Genome Resources:
- Additional Orthologs for GNRH1
Paralogs for GNRH1 Gene
Variants for GNRH1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNRH1 Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 908878 | Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia | 25,424,142(-) |
C/A NM_001083111.2(GNRH1):c.-2+59G>T |
FIVE_PRIME_UTR_VARIANT,INTRON | |
| 908879 | Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia | 25,424,326(-) |
G/C NM_000825.3(GNRH1):c.-984C>G |
FIVE_PRIME_UTR | |
| 908880 | Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia | 25,424,540(-) |
C/T NM_000825.3(GNRH1):c.-1198G>A |
FIVE_PRIME_UTR | |
| 909738 | Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia | 25,424,658(-) |
G/A NM_000825.3(GNRH1):c.-1316C>T |
FIVE_PRIME_UTR | |
| 909739 | Uncertain Significance: Hypogonadotropic hypogonadism 12 with or without anosmia | 25,424,966(-) |
C/T NM_000825.3(GNRH1):c.-1624G>A |
FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNRH1 Gene
Disorders for GNRH1 Gene
| 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 |
|
|
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 variants 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
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No data available for Genatlas for GNRH1 Gene
Publications for GNRH1 Gene
- 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 22 40
- Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. (PMID: 19535795) Bouligand J … Young J (The New England journal of medicine 2009) 3 4 72
- 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 40
- Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing. (PMID: 15546906) Sedlmeyer IL … Palmert MR (The Journal of clinical endocrinology and metabolism 2005) 3 22 40
- Characterization of cDNA for precursor of human luteinizing hormone releasing hormone. (PMID: 6090951) Seeburg PH … Adelman JP (Nature 1984) 2 3 4
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