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Protein

Progonadoliberin-1

Gene

GNRH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Sitei26Appears to be essential for biological activity1

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

Keywordsi

Molecular functionHormone

Enzyme and pathway databases

ReactomeiR-HSA-375281 Hormone ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
SIGNORiP01148

Names & Taxonomyi

Protein namesi
Recommended name:
Progonadoliberin-1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000147437.9
HGNCiHGNC:4419 GNRH1
MIMi152760 gene
neXtProtiNX_P01148

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hypogonadotropic hypogonadism 12 with or without anosmia (HH12)2 Publications
The disease is caused by mutations 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).
See also OMIM:614841
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06996631R → C in HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1. 1 Publication1

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 mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNETi2796
GeneReviewsiGNRH1
MalaCardsiGNRH1
MIMi614841 phenotype
OpenTargetsiENSG00000147437
Orphaneti432 Normosmic congenital hypogonadotropic hypogonadism
PharmGKBiPA28798

Polymorphism and mutation databases

BioMutaiGNRH1
DMDMi121522

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 231 PublicationAdd BLAST23
ChainiPRO_000001239524 – 92Progonadoliberin-1Add BLAST69
PeptideiPRO_000001239624 – 33Gonadoliberin-11 Publication10
PeptideiPRO_000001239737 – 92GnRH-associated peptide 1Add BLAST56

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei24Pyrrolidone carboxylic acid1 Publication1
Modified residuei33Glycine amide1 Publication1

Keywords - PTMi

Amidation, Cleavage on pair of basic residues, Pyrrolidone carboxylic acid

Proteomic databases

PaxDbiP01148
PeptideAtlasiP01148
PRIDEiP01148
ProteomicsDBi51339

Miscellaneous databases

PMAP-CutDBiP01148

Expressioni

Gene expression databases

BgeeiENSG00000147437 Expressed in 127 organ(s), highest expression level in tibial nerve
CleanExiHS_GNRH1
GenevisibleiP01148 HS

Organism-specific databases

HPAiHPA027532

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109058, 8 interactors
STRINGi9606.ENSP00000276414

Structurei

Secondary structure

192
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP01148
SMRiP01148
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GnRH family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J18B Eukaryota
ENOG410ZDKS LUCA
GeneTreeiENSGT00390000008225
HOGENOMiHOG000033698
HOVERGENiHBG014746
InParanoidiP01148
KOiK05252
OMAiSGQHWSY
OrthoDBiEOG091G147V
PhylomeDBiP01148
TreeFamiTF330934

Family and domain databases

InterProiView protein in InterPro
IPR002012 GnRH
IPR019792 Gonadoliberin_I
IPR004079 Gonadoliberin_I_precursor
PANTHERiPTHR10522 PTHR10522, 1 hit
PTHR10522:SF0 PTHR10522:SF0, 1 hit
PfamiView protein in Pfam
PF00446 GnRH, 1 hit
PRINTSiPR01541 GONADOLIBRNI
PROSITEiView protein in PROSITE
PS00473 GNRH, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P01148-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKPIQKLLAG LILLTWCVEG CSSQHWSYGL RPGGKRDAEN LIDSFQEIVK
60 70 80 90
EVGQLAETQR FECTTHQPRS PLRDLKGALE SLIEEETGQK KI
Length:92
Mass (Da):10,380
Last modified:April 1, 1988 - v1
Checksum:i30A72221B076FA79
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01394316W → S2 PublicationsCorresponds to variant dbSNP:rs6185Ensembl.1
Natural variantiVAR_06996631R → C in HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1. 1 Publication1

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
CCDSiCCDS43725.1
PIRiS05308 RHHUG
RefSeqiNP_001076580.1, NM_001083111.1
UniGeneiHs.82963

Genome annotation databases

EnsembliENST00000276414; ENSP00000276414; ENSG00000147437
ENST00000421054; ENSP00000391280; ENSG00000147437
GeneIDi2796
KEGGihsa:2796
UCSCiuc003xem.5 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS43725.1
PIRiS05308 RHHUG
RefSeqiNP_001076580.1, NM_001083111.1
UniGeneiHs.82963

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4D5MX-ray0.85A/B/C/D24-33[»]
ProteinModelPortaliP01148
SMRiP01148
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109058, 8 interactors
STRINGi9606.ENSP00000276414

Polymorphism and mutation databases

BioMutaiGNRH1
DMDMi121522

Proteomic databases

PaxDbiP01148
PeptideAtlasiP01148
PRIDEiP01148
ProteomicsDBi51339

Protocols and materials databases

DNASUi2796
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000276414; ENSP00000276414; ENSG00000147437
ENST00000421054; ENSP00000391280; ENSG00000147437
GeneIDi2796
KEGGihsa:2796
UCSCiuc003xem.5 human

Organism-specific databases

CTDi2796
DisGeNETi2796
EuPathDBiHostDB:ENSG00000147437.9
GeneCardsiGNRH1
GeneReviewsiGNRH1
HGNCiHGNC:4419 GNRH1
HPAiHPA027532
MalaCardsiGNRH1
MIMi152760 gene
614841 phenotype
neXtProtiNX_P01148
OpenTargetsiENSG00000147437
Orphaneti432 Normosmic congenital hypogonadotropic hypogonadism
PharmGKBiPA28798
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J18B Eukaryota
ENOG410ZDKS LUCA
GeneTreeiENSGT00390000008225
HOGENOMiHOG000033698
HOVERGENiHBG014746
InParanoidiP01148
KOiK05252
OMAiSGQHWSY
OrthoDBiEOG091G147V
PhylomeDBiP01148
TreeFamiTF330934

Enzyme and pathway databases

ReactomeiR-HSA-375281 Hormone ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
SIGNORiP01148

Miscellaneous databases

GeneWikiiGonadotropin-releasing_hormone
GenomeRNAii2796
PMAP-CutDBiP01148
PROiPR:P01148
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147437 Expressed in 127 organ(s), highest expression level in tibial nerve
CleanExiHS_GNRH1
GenevisibleiP01148 HS

Family and domain databases

InterProiView protein in InterPro
IPR002012 GnRH
IPR019792 Gonadoliberin_I
IPR004079 Gonadoliberin_I_precursor
PANTHERiPTHR10522 PTHR10522, 1 hit
PTHR10522:SF0 PTHR10522:SF0, 1 hit
PfamiView protein in Pfam
PF00446 GnRH, 1 hit
PRINTSiPR01541 GONADOLIBRNI
PROSITEiView protein in PROSITE
PS00473 GNRH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGON1_HUMAN
AccessioniPrimary (citable) accession number: P01148
Secondary accession number(s): A0AVP0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: April 1, 1988
Last modified: November 7, 2018
This is version 172 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Pharmaceutical, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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