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
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.
2
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 Transcription factors information provided by TRRUST V2 database.
6
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 (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
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 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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
33
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypogonadotropic hypogonadism 12 with or without anosmia Likely pathogenic; Pathogenic rs587777859, rs587777758 RCV005603600
RCV000030900
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (32)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amenorrhea Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRADYCARDIA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (162)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Cancer Adrenal Cancer CTD_human_DG 19261682
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia CTD_human_DG 19261682
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 19717419
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 15562029
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34128468, 37713808 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amenorrhea Amenorrhea Pubtator 32870266 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anaplasia Anaplasia BEFREE 11489810
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen Insensitivity Syndrome Androgen insensitivity syndrome Pubtator 10086936 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anosmia Anosmia Pubtator 22700069 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anovulation Anovulation Pubtator 28453773 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only