LOCUS       NM_001083111             502 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens gonadotropin releasing hormone 1 (GNRH1), transcript
            variant 2, mRNA.
ACCESSION   NM_001083111
VERSION     NM_001083111.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 502)
  AUTHORS   Kaluzna,M., Budny,B., Rabijewski,M., Dubiel,A.,
            Trofimiuk-Muldner,M., Szutkowski,K., Piotrowski,A., Wrotkowska,E.,
            Hubalewska-Dydejczyk,A., Ruchala,M. and Ziemnicka,K.
  TITLE     Variety of genetic defects in GnRH and hypothalamic-pituitary
            signaling and development in normosmic patients with IHH
  JOURNAL   Front Endocrinol (Lausanne) 15, 1396805 (2024)
   PUBMED   39010903
  REMARK    GeneRIF: Variety of genetic defects in GnRH and
            hypothalamic-pituitary signaling and development in normosmic
            patients with IHH.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 502)
  AUTHORS   Prevot,V., Tena-Sempere,M. and Pitteloud,N.
  TITLE     New Horizons: Gonadotropin-Releasing Hormone and Cognition
  JOURNAL   J Clin Endocrinol Metab 108 (11), 2747-2758 (2023)
   PUBMED   37261390
  REMARK    GeneRIF: New Horizons: Gonadotropin-Releasing Hormone and
            Cognition.
            Review article
REFERENCE   3  (bases 1 to 502)
  AUTHORS   Fuqua,J.S. and Eugster,E.A.
  TITLE     History of Puberty: Normal and Precocious
  JOURNAL   Horm Res Paediatr 95 (6), 568-578 (2022)
   PUBMED   36446322
  REMARK    GeneRIF: History of Puberty: Normal and Precocious.
            Review article
REFERENCE   4  (bases 1 to 502)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301509
REFERENCE   5  (bases 1 to 502)
  AUTHORS   Janaky,T., Juhasz,A., Bajusz,S., Csernus,V., Srkalovic,G.,
            Bokser,L., Milovanovic,S., Redding,T.W., Rekasi,Z., Nagy,A. et al.
  TITLE     Analogues of luteinizing hormone-releasing hormone containing
            cytotoxic groups
  JOURNAL   Proc Natl Acad Sci U S A 89 (3), 972-976 (1992)
   PUBMED   1310542
REFERENCE   6  (bases 1 to 502)
  AUTHORS   Healey,S.C., Martin,N.G. and Chenevix-Trench,G.
  TITLE     NcoI RFLP of the human LHRH gene on chromosome 8p
  JOURNAL   Nucleic Acids Res 19 (21), 6059 (1991)
   PUBMED   1682898
REFERENCE   7  (bases 1 to 502)
  AUTHORS   Hayflick,J.S., Adelman,J.P. and Seeburg,P.H.
  TITLE     The complete nucleotide sequence of the human
            gonadotropin-releasing hormone gene
  JOURNAL   Nucleic Acids Res 17 (15), 6403-6404 (1989)
   PUBMED   2671939
REFERENCE   8  (bases 1 to 502)
  AUTHORS   Yang-Feng,T.L., Seeburg,P.H. and Francke,U.
  TITLE     Human luteinizing hormone-releasing hormone gene (LHRH) is located
            on short arm of chromosome 8 (region 8p11.2----p21)
  JOURNAL   Somat Cell Mol Genet 12 (1), 95-100 (1986)
   PUBMED   3511544
REFERENCE   9  (bases 1 to 502)
  AUTHORS   Adelman,J.P., Mason,A.J., Hayflick,J.S. and Seeburg,P.H.
  TITLE     Isolation of the gene and hypothalamic cDNA for the common
            precursor of gonadotropin-releasing hormone and prolactin
            release-inhibiting factor in human and rat
  JOURNAL   Proc Natl Acad Sci U S A 83 (1), 179-183 (1986)
   PUBMED   2867548
REFERENCE   10 (bases 1 to 502)
  AUTHORS   Seeburg,P.H. and Adelman,J.P.
  TITLE     Characterization of cDNA for precursor of human luteinizing hormone
            releasing hormone
  JOURNAL   Nature 311 (5987), 666-668 (1984)
   PUBMED   6090951
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC067290.1, M12578.1 and
            CB243067.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001083111.1.
            
            Summary: This gene encodes a preproprotein that is proteolytically
            processed to generate a peptide that is a member of the
            gonadotropin-releasing hormone (GnRH) family of peptides.
            Alternative splicing results in multiple transcript variants, at
            least one of which is secreted and then cleaved to generate
            gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1
            stimulates the release of luteinizing and follicle stimulating
            hormones, which are important for reproduction. Mutations in this
            gene are associated with hypogonadotropic hypogonadism. [provided
            by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (2) differs at the 5' end compared
            to variant 1, which results in translation initiation from an
            in-frame downstream start codon, and an isoform (2) with a shorter
            N-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.132937.1, M12578.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000421054.7/ ENSP00000391280.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                BC067290.1         395-424
            31-500              M12578.1           1-470
            501-502             CB243067.1         17-18               c
FEATURES             Location/Qualifiers
     source          1..502
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     gene            1..502
                     /gene="GNRH1"
                     /gene_synonym="GNRH; GRH; LHRH; LNRH"
                     /note="gonadotropin releasing hormone 1"
                     /db_xref="GeneID:2796"
                     /db_xref="HGNC:HGNC:4419"
                     /db_xref="MIM:152760"
     exon            1..61
                     /gene="GNRH1"
                     /gene_synonym="GNRH; GRH; LHRH; LNRH"
                     /inference="alignment:Splign:2.1.0"
     exon            62..203
                     /gene="GNRH1"
                     /gene_synonym="GNRH; GRH; LHRH; LNRH"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..341
                     /gene="GNRH1"
                     /gene_synonym="GNRH; GRH; LHRH; LNRH"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; GnRH-associated peptide 1; prolactin
                     release-inhibiting factor; luliberin I;
                     progonadoliberin-1; gonadotropin-releasing hormone 1
                     (luteinizing-releasing hormone); leuteinizing-releasing
                     hormone"
                     /codon_start=1
                     /product="progonadoliberin-1 isoform 2 preproprotein"
                     /protein_id="NP_001076580.1"
                     /db_xref="CCDS:CCDS43725.1"
                     /db_xref="GeneID:2796"
                     /db_xref="HGNC:HGNC:4419"
                     /db_xref="MIM:152760"
                     /translation="MKPIQKLLAGLILLTWCVEGCSSQHWSYGLRPGGKRDAENLIDS
                     FQEIVKEVGQLAETQRFECTTHQPRSPLRDLKGALESLIEEETGQKKI"
     exon            204..299
                     /gene="GNRH1"
                     /gene_synonym="GNRH; GRH; LHRH; LNRH"
                     /inference="alignment:Splign:2.1.0"
     exon            300..502
                     /gene="GNRH1"
                     /gene_synonym="GNRH; GRH; LHRH; LNRH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      478..483
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNRH1"
                     /gene_synonym="GNRH; GRH; LHRH; LNRH"
                     /note="hexamer: AATAAA"
     polyA_site      502
                     /gene="GNRH1"
                     /gene_synonym="GNRH; GRH; LHRH; LNRH"
                     /note="major polyA site"
ORIGIN      
        1 acagtactca acctacttca agggaagatt gggatctttt tggctctctg cctctaaaca
       61 gaatgaagcc aattcaaaaa ctcctagctg gccttattct actgacttgg tgcgtggaag
      121 gctgctccag ccagcactgg tcctatggac tgcgccctgg aggaaagaga gatgccgaaa
      181 atttgattga ttctttccaa gagatagtca aagaggttgg tcaactggca gaaacccaac
      241 gcttcgaatg caccacgcac cagccacgtt ctcccctccg agacctgaaa ggagctctgg
      301 aaagtctgat tgaagaggaa actgggcaga agaagattta aatccattgg gccagaagga
      361 atgaccatta ctaacatgac ttaagtataa ttctgacatt gaaaatttat aacccattaa
      421 atacctgtaa atggtatgaa tttcagaaat ccttacacca agttgcacat attccataat
      481 aaagtgctgt gttgtgaatg aa
//
