GNRH1 (gonadotropin releasing hormone 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2796
Gene name Gonadotropin releasing hormone 1
Gene symbol GNRH1
Synonyms (NCBI Gene)
GNRHGRHLHRHLNRH
Chromosome 8
Chromosome location 8p21.2
Summary 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
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs587777758 ->T Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT024742 hsa-miR-215-5p Microarray 19074876
MIRT026258 hsa-miR-192-5p Microarray 19074876
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
NF1 Unknown 15319450
PITX1 Repression 19106114
PITX2 Repression 19106114
POU2F1 Unknown 15319450
POU3F1 Unknown 9032292
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005179 Function Hormone activity IEA
GO:0005179 Function Hormone activity TAS 2863757
GO:0005183 Function Gonadotropin hormone-releasing hormone activity IBA
GO:0005183 Function Gonadotropin hormone-releasing hormone activity IEA
GO:0005183 Function Gonadotropin hormone-releasing hormone activity TAS 10832105
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
152760 4419 ENSG00000147437
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01148
Protein name Progonadoliberin-1 (Progonadoliberin I) [Cleaved into: Gonadoliberin-1 (Gonadoliberin I) (Gonadorelin) (Gonadotropin-releasing hormone I) (GnRH-I) (Luliberin I) (Luteinizing hormone-releasing hormone I) (LH-RH I); GnRH-associated peptide 1 (GnRH-associate
Protein function Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.
PDB 4D5M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00446 GnRH 24 → 33 Gonadotropin-releasing hormone Family
Sequence 
MKPIQKLLAGLILLTWCVEGCSSQHWSYGLRPGGKRDAENLIDSFQEIVKEVGQLAETQR
FECTTHQPRSPLRDLKGALESLIEEETGQKKI
Sequence length 92
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling
GnRH signaling pathway
GnRH secretion 		  Hormone ligand-binding receptors
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypogonadotropic hypogonadism 12 with or without anosmia Likely pathogenic; Pathogenic rs587777859, rs587777758 RCV005603600
RCV000030900
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs17053646 RCV005918698
Amenorrhea Uncertain significance rs201184458 RCV001849750
Cervical cancer Benign rs17053646, rs146523104 RCV005918699
RCV005906799
Clear cell carcinoma of kidney Benign rs146523104 RCV005906800
Show/Hide Text Mining Associations (93)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 8669489
Alzheimer Disease Associate 34128468, 37713808
Amenorrhea Associate 32870266
Androgen Insensitivity Syndrome Associate 10086936
Anosmia Associate 22700069
Anovulation Associate 28453773
Breast Neoplasms Associate 17201186, 17692113, 17943530, 24986677, 2646641
Breast Neoplasms Inhibit 23176180
Carcinogenesis Associate 28592245
Carcinoma Hepatocellular Associate 24959076, 36346805, 37914817