GNRH1 (gonadotropin releasing hormone 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2796
Gene name Gene Name - the full gene name approved by the HGNC.
Gonadotropin releasing hormone 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNRH1
Synonyms (NCBI Gene) Gene synonyms aliases
GNRH, GRH, LHRH, LNRH
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.2
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs587777758 ->T Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT024742 hsa-miR-215-5p Microarray 19074876
MIRT026258 hsa-miR-192-5p Microarray 19074876
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
Transcription factor Regulation Reference
NF1 Unknown 15319450
PITX1 Repression 19106114
PITX2 Repression 19106114
POU2F1 Unknown 15319450
POU3F1 Unknown 9032292
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
152760 4419 ENSG00000147437
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypogonadotropic Hypogonadism With Or Without Anosmia Hypogonadotropic hypogonadism 12 with or without anosmia rs587777758 N/A
Show/Hide Text Mining Associations (93)
Associations from Text Mining Disease 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