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P01148

- GON1_HUMAN

UniProt

P01148 - GON1_HUMAN

Protein

Progonadoliberin-1

Gene

GNRH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    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

    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.
    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

    MKPIQKLLAG LILLTWCVEG CSSQHWSYGL RPGGKRDAEN LIDSFQEIVK   50
    EVGQLAETQR FECTTHQPRS PLRDLKGALE SLIEEETGQK KI 92
    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.
    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

    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 1, 2014
    This is version 145 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