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P01148

- GON1_HUMAN

UniProt

P01148 - GON1_HUMAN

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Protein

Progonadoliberin-1

Gene

GNRH1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. gonadotropin hormone-releasing hormone activity Source: ProtInc
  2. hormone activity Source: ProtInc

GO - Biological processi

  1. cell-cell signaling Source: ProtInc
  2. female pregnancy Source: Ensembl
  3. multicellular organismal development Source: ProtInc
  4. negative regulation of apoptotic process Source: Ensembl
  5. negative regulation of cell proliferation Source: ProtInc
  6. negative regulation of neuron migration Source: Ensembl
  7. ovulation cycle Source: Ensembl
  8. regulation of gene expression Source: Ensembl
  9. regulation of ovarian follicle development Source: Ensembl
  10. response to corticosteroid Source: Ensembl
  11. response to ethanol Source: Ensembl
  12. 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: Chromosome 8

Organism-specific databases

HGNCiHGNC:4419. GNRH1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: Reactome
  2. extracellular space Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hypogonadotropic hypogonadism 12 with or without anosmia (HH12) [MIM:614841]: A 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).2 Publications
Note: 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
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.

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.
GenevestigatoriP01148.

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.
OMAiTRIIFEL.
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:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi121522.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Gonadotropin-releasing hormone entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.82963.

3D structure databases

ProteinModelPortali P01148.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109058. 1 interaction.
STRINGi 9606.ENSP00000276414.

Polymorphism databases

DMDMi 121522.

Proteomic databases

PRIDEi P01148.

Protocols and materials databases

DNASUi 2796.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000276414 ; ENSP00000276414 ; ENSG00000147437 .
ENST00000421054 ; ENSP00000391280 ; ENSG00000147437 .
GeneIDi 2796.
KEGGi hsa:2796.
UCSCi uc003xem.4. human.

Organism-specific databases

CTDi 2796.
GeneCardsi GC08M025276.
GeneReviewsi GNRH1.
HGNCi HGNC:4419. GNRH1.
HPAi HPA027532.
MIMi 152760. gene.
614841. phenotype.
neXtProti NX_P01148.
Orphaneti 432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBi PA28798.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39107.
GeneTreei ENSGT00390000008225.
HOGENOMi HOG000033698.
HOVERGENi HBG014746.
InParanoidi P01148.
KOi K05252.
OMAi TRIIFEL.
OrthoDBi EOG7JX36N.
PhylomeDBi P01148.
TreeFami TF330934.

Enzyme and pathway databases

Reactomei REACT_16942. Hormone ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.

Miscellaneous databases

GeneWikii Gonadotropin-releasing_hormone.
GenomeRNAii 2796.
NextBioi 11013.
PMAP-CutDB P01148.
PROi P01148.
SOURCEi Search...

Gene expression databases

Bgeei P01148.
CleanExi HS_GNRH1.
Genevestigatori P01148.

Family and domain databases

InterProi IPR002012. GnRH.
IPR019792. Gonadoliberin_I.
IPR004079. Gonadoliberin_I_precursor.
[Graphical view ]
PANTHERi PTHR10522. PTHR10522. 1 hit.
Pfami PF00446. GnRH. 1 hit.
[Graphical view ]
PRINTSi PR01541. GONADOLIBRNI.
PROSITEi PS00473. GNRH. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 146 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