LOCUS       NM_000515                823 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.
ACCESSION   NM_000515
VERSION     NM_000515.5
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 823)
  AUTHORS   Huang,X., Chen,H., Shangguan,H., Wu,W., Ai,Z., Chen,Z. and Chen,R.
  TITLE     The clinical and genetic aspects of six individuals with GH1
            variants and isolated growth hormone deficiency type II
  JOURNAL   Front Endocrinol (Lausanne) 15, 1363050 (2024)
   PUBMED   39435354
  REMARK    GeneRIF: The clinical and genetic aspects of six individuals with
            GH1 variants and isolated growth hormone deficiency type II.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 823)
  AUTHORS   Maimaituxun,G., Amano,T., Kenny,G.P., Mundel,T., Kajiki,M.,
            Tagawa,K., Katagiri,A., Tanabe,Y., Watanabe,K., Nishiyasu,T.,
            Kondo,N. and Fujii,N.
  TITLE     GH and IGF-1 in skin interstitial fluid and blood are associated
            with heat loss responses in exercising young adults
  JOURNAL   Eur J Appl Physiol 124 (8), 2285-2301 (2024)
   PUBMED   38446190
  REMARK    GeneRIF: GH and IGF-1 in skin interstitial fluid and blood are
            associated with heat loss responses in exercising young adults.
REFERENCE   3  (bases 1 to 823)
  AUTHORS   Zhou,Z., Luo,Y., Li,K., Zhong,S., Zhu,Y., Yang,H., Wang,L.,
            Chen,S., Duan,L., Gong,F., Gong,G., Zhu,H. and Pan,H.
  TITLE     Brain white matter alterations in young adult male patients with
            childhood-onset growth hormone deficiency: a diffusion tensor
            imaging study
  JOURNAL   Endocrine 83 (3), 724-732 (2024)
   PUBMED   37936007
  REMARK    GeneRIF: Brain white matter alterations in young adult male
            patients with childhood-onset growth hormone deficiency: a
            diffusion tensor imaging study.
REFERENCE   4  (bases 1 to 823)
  AUTHORS   Herman,R., Janez,A., Mikhailidis,D.P., Poredos,P., Blinc,A.,
            Sabovic,M., Studen,K.B., Schernthaner,G.H., Anagnostis,P.,
            Antignani,P.L. and Jensterle,M.
  TITLE     Growth Hormone, Atherosclerosis and Peripheral Arterial Disease:
            Exploring the Spectrum from Acromegaly to Growth Hormone Deficiency
  JOURNAL   Curr Vasc Pharmacol 22 (1), 28-35 (2024)
   PUBMED   37962050
  REMARK    GeneRIF: Growth Hormone, Atherosclerosis and Peripheral Arterial
            Disease: Exploring the Spectrum from Acromegaly to Growth Hormone
            Deficiency.
            Review article
REFERENCE   5  (bases 1 to 823)
  AUTHORS   Fedorczak,A., Lewinski,A. and Stawerska,R.
  TITLE     Involvement of Sirtuin 1 in the Growth Hormone/Insulin-like Growth
            Factor 1 Signal Transduction and Its Impact on Growth Processes in
            Children
  JOURNAL   Int J Mol Sci 24 (20), 15406 (2023)
   PUBMED   37895086
  REMARK    GeneRIF: Involvement of Sirtuin 1 in the Growth
            Hormone/Insulin-like Growth Factor 1 Signal Transduction and Its
            Impact on Growth Processes in Children.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 823)
  AUTHORS   Akinci,A., Kanaka,C., Eble,A., Akar,N., Vidinlisan,S. and
            Mullis,P.E.
  TITLE     Isolated growth hormone (GH) deficiency type IA associated with a
            45-kilobase gene deletion within the human GH gene cluster
  JOURNAL   J Clin Endocrinol Metab 75 (2), 437-441 (1992)
   PUBMED   1322425
REFERENCE   7  (bases 1 to 823)
  AUTHORS   Estes,P.A., Cooke,N.E. and Liebhaber,S.A.
  TITLE     A native RNA secondary structure controls alternative splice-site
            selection and generates two human growth hormone isoforms
  JOURNAL   J Biol Chem 267 (21), 14902-14908 (1992)
   PUBMED   1634529
REFERENCE   8  (bases 1 to 823)
  AUTHORS   de Vos,A.M., Ultsch,M. and Kossiakoff,A.A.
  TITLE     Human growth hormone and extracellular domain of its receptor:
            crystal structure of the complex
  JOURNAL   Science 255 (5042), 306-312 (1992)
   PUBMED   1549776
REFERENCE   9  (bases 1 to 823)
  AUTHORS   Roskam,W.G. and Rougeon,F.
  TITLE     Molecular cloning and nucleotide sequence of the human growth
            hormone structural gene
  JOURNAL   Nucleic Acids Res 7 (2), 305-320 (1979)
   PUBMED   386281
REFERENCE   10 (bases 1 to 823)
  AUTHORS   Martial,J.A., Hallewell,R.A., Baxter,J.D. and Goodman,H.M.
  TITLE     Human growth hormone: complementary DNA cloning and expression in
            bacteria
  JOURNAL   Science 205 (4406), 602-607 (1979)
   PUBMED   377496
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV749353.1 and BC090045.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000515.4.
            
            Summary: The protein encoded by this gene is a member of the
            somatotropin/prolactin family of hormones which play an important
            role in growth control. The gene, along with four other related
            genes, is located at the growth hormone locus on chromosome 17
            where they are interspersed in the same transcriptional
            orientation; an arrangement which is thought to have evolved by a
            series of gene duplications. The five genes share a remarkably high
            degree of sequence identity. Alternative splicing generates
            additional isoforms of each of the five growth hormones, leading to
            further diversity and potential for specialization. This particular
            family member is expressed in the pituitary but not in placental
            tissue as is the case for the other four genes in the growth
            hormone locus. Mutations in or deletions of the gene lead to growth
            hormone deficiency and short stature. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AY613431.1, SRR5189667.317972.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323322.10/ ENSP00000312673.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AV749353.1         14-33
            21-823              BC090045.1         1-803
FEATURES             Location/Qualifiers
     source          1..823
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..823
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="growth hormone 1"
                     /db_xref="GeneID:2688"
                     /db_xref="HGNC:HGNC:4261"
                     /db_xref="MIM:139250"
     exon            1..73
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..717
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; pituitary growth hormone; somatotropin; growth
                     hormone B5"
                     /codon_start=1
                     /product="somatotropin isoform 1 precursor"
                     /protein_id="NP_000506.2"
                     /db_xref="CCDS:CCDS11653.1"
                     /db_xref="GeneID:2688"
                     /db_xref="HGNC:HGNC:4261"
                     /db_xref="MIM:139250"
                     /translation="MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAH
                     RLHQLAFDTYQEFEEAYIPKEQKYSFLQNPQTSLCFSESIPTPSNREETQQKSNLELL
                     RISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPR
                     TGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF"
     exon            74..234
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /inference="alignment:Splign:2.1.0"
     exon            235..354
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /inference="alignment:Splign:2.1.0"
     exon            355..519
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /inference="alignment:Splign:2.1.0"
     exon            520..823
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      804..809
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="hexamer: AATAAA"
     polyA_site      823
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="major polyA site"
ORIGIN      
        1 aaggatccca aggcccaact ccccgaacca ctcagggtcc tgtggacagc tcacctagct
       61 gcaatggcta caggctcccg gacgtccctg ctcctggctt ttggcctgct ctgcctgccc
      121 tggcttcaag agggcagtgc cttcccaacc attcccttat ccaggctttt tgacaacgct
      181 atgctccgcg cccatcgtct gcaccagctg gcctttgaca cctaccagga gtttgaagaa
      241 gcctatatcc caaaggaaca gaagtattca ttcctgcaga acccccagac ctccctctgt
      301 ttctcagagt ctattccgac accctccaac agggaggaaa cacaacagaa atccaaccta
      361 gagctgctcc gcatctccct gctgctcatc cagtcgtggc tggagcccgt gcagttcctc
      421 aggagtgtct tcgccaacag cctggtgtac ggcgcctctg acagcaacgt ctatgacctc
      481 ctaaaggacc tagaggaagg catccaaacg ctgatgggga ggctggaaga tggcagcccc
      541 cggactgggc agatcttcaa gcagacctac agcaagttcg acacaaactc acacaacgat
      601 gacgcactac tcaagaacta cgggctgctc tactgcttca ggaaggacat ggacaaggtc
      661 gagacattcc tgcgcatcgt gcagtgccgc tctgtggagg gcagctgtgg cttctagctg
      721 cccgggtggc atccctgtga cccctcccca gtgcctctcc tggccctgga agttgccact
      781 ccagtgccca ccagccttgt cctaataaaa ttaagttgca tca
//
