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    GH1 growth hormone 1 [ Homo sapiens (human) ]

    Gene ID: 2688, updated on 28-Nov-2023

    Summary

    Official Symbol
    GH1provided by HGNC
    Official Full Name
    growth hormone 1provided by HGNC
    Primary source
    HGNC:HGNC:4261
    See related
    Ensembl:ENSG00000259384 MIM:139250; AllianceGenome:HGNC:4261
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GH; GHN; GH-N; GHB5; IGHD2; hGH-N; IGHD1A; IGHD1B
    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]
    Expression
    Restricted expression toward placenta (RPKM 13.6) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GH1 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63917203..63918839, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64787962..64789598, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61994563..61996199, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene chorionic somatomammotropin hormone 1 Neighboring gene IGHD type 1A-1 recombination region Neighboring gene uncharacterized LOC112268204 Neighboring gene chorionic somatomammotropin hormone like 1 Neighboring gene IGHD type 1A-2 recombination region Neighboring gene growth hormone locus control region Neighboring gene CD79b molecule Neighboring gene sodium voltage-gated channel alpha subunit 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62036321-62037320 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62037321-62038319 Neighboring gene uncharacterized LOC105371858

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat binding to phosphatidylinositol-(4,5)-bisphophate is required for inhibition of growth hormone secretion from cells PubMed
    tat Overexpression of phosphatidylinositol 4 phosphate 5-kinase (PIP5K) suppresses HIV-1 Tat-mediated inhibition of growth hormone secretion from cells PubMed
    tat Growth hormone (GH) inhibits the induction of p53 expression in neurons by supernatants from HIV-1 Tat-transfected monocytoid cells, indicating GH may have a role in the treatment of HIV-induced neurodegeneration PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth factor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables growth hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth hormone receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables prolactin receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables prolactin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bone maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in growth hormone receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in growth hormone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of MAP kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of activation of Janus kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of glucose transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of growth IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of insulin-like growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of multicellular organism growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in positive regulation of receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tyrosine phosphorylation of STAT protein IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to estradiol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to nutrient levels IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in endosome lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of growth hormone receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    somatotropin
    Names
    growth hormone B5
    pituitary growth hormone

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011676.1 RefSeqGene

      Range
      5000..6636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000515.5NP_000506.2  somatotropin isoform 1 precursor

      See identical proteins and their annotated locations for NP_000506.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AV749353, BC090045
      Consensus CDS
      CCDS11653.1
      UniProtKB/Swiss-Prot
      A6NEF6, P01241, Q14405, Q16631, Q5EB53, Q9HBZ1, Q9UMJ7, Q9UNL5
      UniProtKB/TrEMBL
      B1A4G6, Q6IYF0, Q6IYF1
      Related
      ENSP00000312673.5, ENST00000323322.10
      Conserved Domains (1) summary
      cd10285
      Location:35215
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones
    2. NM_022559.4NP_072053.1  somatotropin isoform 2 precursor

      See identical proteins and their annotated locations for NP_072053.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform 1.
      Source sequence(s)
      AV749353, BC062475
      Consensus CDS
      CCDS45760.1
      UniProtKB/TrEMBL
      B1A4G7, Q6IYF0, Q6IYF1
      Related
      ENSP00000408486.2, ENST00000458650.6
      Conserved Domains (1) summary
      cd10285
      Location:35200
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones
    3. NM_022560.4NP_072054.1  somatotropin isoform 3 precursor

      See identical proteins and their annotated locations for NP_072054.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AV749353, CD108592
      Consensus CDS
      CCDS11654.1
      UniProtKB/TrEMBL
      A0A087WXJ5
      Related
      ENSP00000343791.4, ENST00000351388.8
      Conserved Domains (1) summary
      cd10285
      Location:35175
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      63917203..63918839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64787962..64789598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022561.2: Suppressed sequence

      Description
      NM_022561.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_022562.2: Suppressed sequence

      Description
      NM_022562.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.