UniProtKB - P01148 (GON1_HUMAN)
Protein
Progonadoliberin-1
Gene
GNRH1
Organism
Homo sapiens (Human)
Status
Functioni
Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.
Miscellaneous
The 3D-structure was determined for the synthetic analog Triptorelin.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 26 | Appears to be essential for biological activity | 1 |
GO - Molecular functioni
- gonadotropin hormone-releasing hormone activity Source: GO_Central
- gonadotropin-releasing hormone receptor binding Source: GO_Central
- hormone activity Source: ProtInc
GO - Biological processi
- aging Source: Ensembl
- cell-cell signaling Source: ProtInc
- estrous cycle Source: Ensembl
- female pregnancy Source: Ensembl
- G protein-coupled receptor signaling pathway Source: Reactome
- male sex determination Source: Ensembl
- multicellular organism development Source: ProtInc
- negative regulation of apoptotic process Source: Ensembl
- negative regulation of cell population proliferation Source: ProtInc
- negative regulation of immature T cell proliferation Source: Ensembl
- negative regulation of neuron migration Source: Ensembl
- regulation of gene expression Source: Ensembl
- regulation of ovarian follicle development Source: Ensembl
- reproduction Source: GO_Central
- response to corticosteroid Source: Ensembl
- response to ethanol Source: Ensembl
- response to lipopolysaccharide Source: Ensembl
- response to potassium ion Source: Ensembl
- response to prolactin Source: Ensembl
- response to prostaglandin E Source: Ensembl
- response to testosterone Source: Ensembl
- signal transduction Source: ProtInc
Keywordsi
Molecular function | Hormone |
Enzyme and pathway databases
PathwayCommonsi | P01148 |
Reactomei | R-HSA-375281, Hormone ligand-binding receptors R-HSA-416476, G alpha (q) signalling events |
SIGNORi | P01148 |
Names & Taxonomyi
Protein namesi | Recommended name: Progonadoliberin-1Alternative name(s): Progonadoliberin I Cleaved into the following 2 chains: Alternative name(s): Gonadoliberin I Gonadorelin Gonadotropin-releasing hormone I Short name: GnRH-I Luliberin I Luteinizing hormone-releasing hormone I Short name: LH-RH I Alternative name(s): GnRH-associated peptide I |
Gene namesi | Name:GNRH1 Synonyms:GNRH, GRH, LHRH |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4419, GNRH1 |
MIMi | 152760, gene |
neXtProti | NX_P01148 |
VEuPathDBi | HostDB:ENSG00000147437.9 |
Subcellular locationi
Extracellular region or secreted
Endoplasmic reticulum
- cytoplasmic side of rough endoplasmic reticulum membrane Source: Ensembl
Extracellular region or secreted
- extracellular region Source: Reactome
- extracellular space Source: GO_Central
Mitochondrion
- mitochondrion Source: Ensembl
Other locations
- axon terminus Source: Ensembl
- dendrite Source: Ensembl
- Golgi-associated vesicle Source: Ensembl
- neurosecretory vesicle Source: Ensembl
- perikaryon Source: Ensembl
Keywords - Cellular componenti
SecretedPathology & Biotechi
Involvement in diseasei
Hypogonadotropic hypogonadism 12 with or without anosmia (HH12)2 Publications
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).1 Publication
Disease descriptionA 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).
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069966 | 31 | R → C in HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1. 1 Publication | 1 |
Pharmaceutical usei
Available under the names Factrel (Ayerst Labs), Lutrepulse or Lutrelef (Ferring Pharmaceuticals) and Relisorm (Serono). Used in evaluating hypothalamic-pituitary gonadotropic function.
Keywords - Diseasei
Disease variant, Hypogonadotropic hypogonadism, Kallmann syndromeOrganism-specific databases
DisGeNETi | 2796 |
GeneReviewsi | GNRH1 |
MalaCardsi | GNRH1 |
MIMi | 614841, phenotype |
OpenTargetsi | ENSG00000147437 |
Orphaneti | 432, Normosmic congenital hypogonadotropic hypogonadism |
PharmGKBi | PA28798 |
Miscellaneous databases
Pharosi | P01148, Tbio |
Genetic variation databases
BioMutai | GNRH1 |
DMDMi | 121522 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | 1 PublicationAdd BLAST | 23 | |
ChainiPRO_0000012395 | 24 – 92 | Progonadoliberin-1Add BLAST | 69 | |
PeptideiPRO_0000012396 | 24 – 33 | Gonadoliberin-11 Publication | 10 | |
PeptideiPRO_0000012397 | 37 – 92 | GnRH-associated peptide 1Add BLAST | 56 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 24 | Pyrrolidone carboxylic acid1 Publication | 1 | |
Modified residuei | 33 | Glycine amide1 Publication | 1 |
Keywords - PTMi
Amidation, Cleavage on pair of basic residues, Pyrrolidone carboxylic acidProteomic databases
MassIVEi | P01148 |
PaxDbi | P01148 |
PeptideAtlasi | P01148 |
PRIDEi | P01148 |
ProteomicsDBi | 51339 |
Expressioni
Gene expression databases
Bgeei | ENSG00000147437, Expressed in sural nerve and 144 other tissues |
Genevisiblei | P01148, HS |
Organism-specific databases
HPAi | ENSG00000147437, Tissue enhanced (brain) |
Interactioni
GO - Molecular functioni
- gonadotropin hormone-releasing hormone activity Source: GO_Central
- gonadotropin-releasing hormone receptor binding Source: GO_Central
- hormone activity Source: ProtInc
Protein-protein interaction databases
BioGRIDi | 109058, 8 interactors |
IntActi | P01148, 7 interactors |
STRINGi | 9606.ENSP00000276414 |
Miscellaneous databases
RNActi | P01148, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P01148 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the GnRH family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | ENOG502S8C8, Eukaryota |
GeneTreei | ENSGT00390000008225 |
HOGENOMi | CLU_2412553_0_0_1 |
InParanoidi | P01148 |
OMAi | EPQRFEC |
OrthoDBi | 1556205at2759 |
PhylomeDBi | P01148 |
TreeFami | TF330934 |
Family and domain databases
InterProi | View protein in InterPro IPR002012, GnRH IPR019792, Gonadoliberin IPR004079, Gonadoliberin_I_precursor |
PANTHERi | PTHR10522, PTHR10522, 1 hit |
Pfami | View protein in Pfam PF00446, GnRH, 1 hit |
PRINTSi | PR01541, GONADOLIBRNI |
PROSITEi | View protein in PROSITE PS00473, GNRH, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P01148-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MKPIQKLLAG LILLTWCVEG CSSQHWSYGL RPGGKRDAEN LIDSFQEIVK
60 70 80 90
EVGQLAETQR FECTTHQPRS PLRDLKGALE SLIEEETGQK KI
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013943 | 16 | W → S2 PublicationsCorresponds to variant dbSNP:rs6185EnsemblClinVar. | 1 | |
Natural variantiVAR_069966 | 31 | R → C in HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X01059 mRNA Translation: CAA25526.1 M12578 mRNA Translation: AAA35916.1 X15215 Genomic DNA Translation: CAA33285.1 BC126437 mRNA Translation: AAI26438.1 BC126463 mRNA Translation: AAI26464.1 |
CCDSi | CCDS43725.1 |
PIRi | S05308, RHHUG |
RefSeqi | NP_001076580.1, NM_001083111.1 |
Genome annotation databases
Ensembli | ENST00000276414; ENSP00000276414; ENSG00000147437 ENST00000421054; ENSP00000391280; ENSG00000147437 |
GeneIDi | 2796 |
KEGGi | hsa:2796 |
UCSCi | uc003xem.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia Gonadotropin-releasing hormone entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X01059 mRNA Translation: CAA25526.1 M12578 mRNA Translation: AAA35916.1 X15215 Genomic DNA Translation: CAA33285.1 BC126437 mRNA Translation: AAI26438.1 BC126463 mRNA Translation: AAI26464.1 |
CCDSi | CCDS43725.1 |
PIRi | S05308, RHHUG |
RefSeqi | NP_001076580.1, NM_001083111.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4D5M | X-ray | 0.85 | A/B/C/D | 24-33 | [»] | |
SMRi | P01148 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109058, 8 interactors |
IntActi | P01148, 7 interactors |
STRINGi | 9606.ENSP00000276414 |
Genetic variation databases
BioMutai | GNRH1 |
DMDMi | 121522 |
Proteomic databases
MassIVEi | P01148 |
PaxDbi | P01148 |
PeptideAtlasi | P01148 |
PRIDEi | P01148 |
ProteomicsDBi | 51339 |
Protocols and materials databases
Antibodypediai | 5376, 464 antibodies |
DNASUi | 2796 |
Genome annotation databases
Ensembli | ENST00000276414; ENSP00000276414; ENSG00000147437 ENST00000421054; ENSP00000391280; ENSG00000147437 |
GeneIDi | 2796 |
KEGGi | hsa:2796 |
UCSCi | uc003xem.5, human |
Organism-specific databases
CTDi | 2796 |
DisGeNETi | 2796 |
GeneCardsi | GNRH1 |
GeneReviewsi | GNRH1 |
HGNCi | HGNC:4419, GNRH1 |
HPAi | ENSG00000147437, Tissue enhanced (brain) |
MalaCardsi | GNRH1 |
MIMi | 152760, gene 614841, phenotype |
neXtProti | NX_P01148 |
OpenTargetsi | ENSG00000147437 |
Orphaneti | 432, Normosmic congenital hypogonadotropic hypogonadism |
PharmGKBi | PA28798 |
VEuPathDBi | HostDB:ENSG00000147437.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S8C8, Eukaryota |
GeneTreei | ENSGT00390000008225 |
HOGENOMi | CLU_2412553_0_0_1 |
InParanoidi | P01148 |
OMAi | EPQRFEC |
OrthoDBi | 1556205at2759 |
PhylomeDBi | P01148 |
TreeFami | TF330934 |
Enzyme and pathway databases
PathwayCommonsi | P01148 |
Reactomei | R-HSA-375281, Hormone ligand-binding receptors R-HSA-416476, G alpha (q) signalling events |
SIGNORi | P01148 |
Miscellaneous databases
BioGRID-ORCSi | 2796, 10 hits in 1000 CRISPR screens |
GeneWikii | Gonadotropin-releasing_hormone |
GenomeRNAii | 2796 |
Pharosi | P01148, Tbio |
PROi | PR:P01148 |
RNActi | P01148, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147437, Expressed in sural nerve and 144 other tissues |
Genevisiblei | P01148, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002012, GnRH IPR019792, Gonadoliberin IPR004079, Gonadoliberin_I_precursor |
PANTHERi | PTHR10522, PTHR10522, 1 hit |
Pfami | View protein in Pfam PF00446, GnRH, 1 hit |
PRINTSi | PR01541, GONADOLIBRNI |
PROSITEi | View protein in PROSITE PS00473, GNRH, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GON1_HUMAN | |
Accessioni | P01148Primary (citable) accession number: P01148 Secondary accession number(s): A0AVP0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
Last sequence update: | April 1, 1988 | |
Last modified: | April 7, 2021 | |
This is version 184 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Pharmaceutical, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families