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Protein

Progonadoliberin-1

Gene

GNRH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei26 – 261Appears to be essential for biological activity

GO - Molecular functioni

  • gonadotropin hormone-releasing hormone activity Source: ProtInc
  • hormone activity Source: ProtInc

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • female pregnancy Source: Ensembl
  • multicellular organismal development Source: ProtInc
  • negative regulation of apoptotic process Source: Ensembl
  • negative regulation of cell proliferation Source: ProtInc
  • negative regulation of neuron migration Source: Ensembl
  • ovulation cycle Source: Ensembl
  • regulation of gene expression Source: Ensembl
  • regulation of ovarian follicle development Source: Ensembl
  • response to corticosteroid Source: Ensembl
  • response to ethanol Source: Ensembl
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hormone

Enzyme and pathway databases

ReactomeiREACT_16942. Hormone ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.

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
ProteomesiUP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:4419. GNRH1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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).

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311R → C in HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1. 1 Publication
VAR_069966

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

MIMi614841. phenotype.
Orphaneti432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBiPA28798.

Polymorphism and mutation databases

BioMutaiGNRH1.
DMDMi121522.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 23231 PublicationAdd
BLAST
Chaini24 – 9269Progonadoliberin-1PRO_0000012395Add
BLAST
Peptidei24 – 3310Gonadoliberin-11 PublicationPRO_0000012396
Peptidei37 – 9256GnRH-associated peptide 1PRO_0000012397Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei24 – 241Pyrrolidone carboxylic acid1 Publication
Modified residuei33 – 331Glycine amide1 Publication

Keywords - PTMi

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

Proteomic databases

PRIDEiP01148.

Miscellaneous databases

PMAP-CutDBP01148.

Expressioni

Gene expression databases

BgeeiP01148.
CleanExiHS_GNRH1.
GenevisibleiP01148. HS.

Organism-specific databases

HPAiHPA027532.

Interactioni

Protein-protein interaction databases

BioGridi109058. 1 interaction.
STRINGi9606.ENSP00000276414.

Structurei

3D structure databases

ProteinModelPortaliP01148.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GnRH family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG39107.
GeneTreeiENSGT00390000008225.
HOGENOMiHOG000033698.
HOVERGENiHBG014746.
InParanoidiP01148.
KOiK05252.
OMAiGCSSQHW.
OrthoDBiEOG7JX36N.
PhylomeDBiP01148.
TreeFamiTF330934.

Family and domain databases

InterProiIPR002012. GnRH.
IPR019792. Gonadoliberin_I.
IPR004079. Gonadoliberin_I_precursor.
[Graphical view]
PANTHERiPTHR10522. PTHR10522. 1 hit.
PfamiPF00446. GnRH. 1 hit.
[Graphical view]
PRINTSiPR01541. GONADOLIBRNI.
PROSITEiPS00473. GNRH. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161W → S.2 Publications
Corresponds to variant rs6185 [ dbSNP | Ensembl ].
VAR_013943
Natural varianti31 – 311R → C in HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1. 1 Publication
VAR_069966

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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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

ProteinModelPortaliP01148.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109058. 1 interaction.
STRINGi9606.ENSP00000276414.

Polymorphism and mutation databases

BioMutaiGNRH1.
DMDMi121522.

Proteomic databases

PRIDEiP01148.

Protocols and materials databases

DNASUi2796.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000276414; ENSP00000276414; ENSG00000147437.
ENST00000421054; ENSP00000391280; ENSG00000147437.
GeneIDi2796.
KEGGihsa:2796.
UCSCiuc003xem.4. human.

Organism-specific databases

CTDi2796.
GeneCardsiGC08M025276.
GeneReviewsiGNRH1.
HGNCiHGNC:4419. GNRH1.
HPAiHPA027532.
MIMi152760. gene.
614841. phenotype.
neXtProtiNX_P01148.
Orphaneti432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBiPA28798.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39107.
GeneTreeiENSGT00390000008225.
HOGENOMiHOG000033698.
HOVERGENiHBG014746.
InParanoidiP01148.
KOiK05252.
OMAiGCSSQHW.
OrthoDBiEOG7JX36N.
PhylomeDBiP01148.
TreeFamiTF330934.

Enzyme and pathway databases

ReactomeiREACT_16942. Hormone ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.

Miscellaneous databases

GeneWikiiGonadotropin-releasing_hormone.
GenomeRNAii2796.
NextBioi11013.
PMAP-CutDBP01148.
PROiP01148.
SOURCEiSearch...

Gene expression databases

BgeeiP01148.
CleanExiHS_GNRH1.
GenevisibleiP01148. HS.

Family and domain databases

InterProiIPR002012. GnRH.
IPR019792. Gonadoliberin_I.
IPR004079. Gonadoliberin_I_precursor.
[Graphical view]
PANTHERiPTHR10522. PTHR10522. 1 hit.
PfamiPF00446. GnRH. 1 hit.
[Graphical view]
PRINTSiPR01541. GONADOLIBRNI.
PROSITEiPS00473. GNRH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The complete nucleotide sequence of the human gonadotropin-releasing hormone gene."
    Hayflick J.S., Adelman J.P., Seeburg P.H.
    Nucleic Acids Res. 17:6403-6403(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Isolation of the gene and hypothalamic cDNA for the common precursor of gonadotropin-releasing hormone and prolactin release-inhibiting factor in human and rat."
    Adelman J.P., Mason A.J., Hayflick J.S., Seeburg P.H.
    Proc. Natl. Acad. Sci. U.S.A. 83:179-183(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Characterization of cDNA for precursor of human luteinizing hormone releasing hormone."
    Seeburg P.H., Adelman J.P.
    Nature 311:666-668(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-16.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. "The chemical identity of the immunoreactive LHRH-like peptide biosynthesized in the human placenta."
    Tan L., Rousseau P.
    Biochem. Biophys. Res. Commun. 109:1061-1071(1982) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 24-33, PYROGLUTAMATE FORMATION AT GLN-24, AMIDATION AT GLY-33.
  6. Cited for: INVOLVEMENT IN HH12.
  7. Cited for: VARIANT SER-16.
  8. Cited for: VARIANT HH12 CYS-31.

Entry informationi

Entry nameiGON1_HUMAN
AccessioniPrimary (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: June 24, 2015
This is version 149 of the entry and version 1 of the sequence. [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

Complete proteome, Direct protein sequencing, Pharmaceutical, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.