Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    GH1 growth hormone 1 [ Homo sapiens (human) ]

    Gene ID: 2688, updated on 14-May-2013
    Official Symbol
    GH1provided by HGNC
    Official Full Name
    growth hormone 1provided by HGNC
    Primary source
    HGNC:4261
    See related
    Ensembl:ENSG00000259384; HPRD:00751; MIM:139250; Vega:OTTHUMG00000172293
    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; hGH-N; 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]
    Location :
    17q24.2
    Sequence :
    Chromosome: 17; NC_000017.10 (61994563..61996198, complement)

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene chorionic somatomammotropin hormone 1 (placental lactogen) Neighboring gene chorionic somatomammotropin hormone-like 1 Neighboring gene CD79b molecule, immunoglobulin-associated beta Neighboring gene sodium channel, voltage-gated, type IV, alpha subunit

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Protein Gene Interaction Pubs
    Tat, p14 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 Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P01241 P01241 GH1    HPRD  PubMed  
    P01241 P16471 PRLR    HPRD  PubMed  
    BioGRID:108955 BioGRID:114457 BTRC    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108955 BioGRID:108957 GHR    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108955 BioGRID:110226 LTA4H    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108955 BioGRID:112361 SHC1    BioGRID  PubMed Biochemical Activity 
    BioGRID:108955 BioGRID:116342 STRAP    BioGRID  PubMed Affinity Capture-MS 
    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystem
      Endochondral Ossification
    • Growth hormone receptor signaling, organism-specific biosystem (from REACTOME)
      Growth hormone receptor signaling, organism-specific biosystemGrowth hormone (Somatotropin or GH) is a key factor in determining lean body mass, stimulating the growth and metabolism of muscle, bone and cartilage cells, while reducing body fat. It has many othe...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
      Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
    • Prolactin receptor signaling, organism-specific biosystem (from REACTOME)
      Prolactin receptor signaling, organism-specific biosystemProlactin (PRL) is a hormone secreted mainly by the anterior pituitary gland. It was originally identified by its ability to stimulate the development of the mammary gland and lactation, but is now k...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Synthesis, Secretion, and Deacylation of Ghrelin, organism-specific biosystem (from REACTOME)
      Synthesis, Secretion, and Deacylation of Ghrelin, organism-specific biosystemGhrelin is a peptide hormone of 28 amino acid residues which is acylated at the serine-3 of the mature peptide. Ghrelin is synthesized in several tissues: X/A-like cells of the gastric mucosa (the ma...

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    growth factor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    growth hormone receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    prolactin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    JAK-STAT cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    JAK-STAT cascade involved in growth hormone signaling pathway TAS
    Traceable Author Statement
    more info
     
    bone maturation IDA
    Inferred from Direct Assay
    more info
     
    glucose transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth hormone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of JAK-STAT cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of MAP kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of activation of JAK2 kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of insulin-like growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of multicellular organism growth IDA
    Inferred from Direct Assay
    more info
     
    positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT positive regulation of receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of Stat3 protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of Stat5 protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to estradiol stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    somatotropin
    Names
    somatotropin
    pituitary growth hormone

    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
      5001..6636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000515.3NP_000506.2  somatotropin isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) utilizes all five exons, generating the predominant 22-kDa isoform (1).
      Source sequence(s)
      V00520
      Consensus CDS
      CCDS11653.1
      UniProtKB/TrEMBL
      B1A4G6
      UniProtKB/Swiss-Prot
      P01241
      Related
      ENSP00000312673, OTTHUMP00000248032, ENST00000323322, OTTHUMT00000417708
      Conserved Domains (1) summary
      cd10285
      Location:35215
      Blast Score: 669
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones
    2. NM_022559.2NP_072053.1  somatotropin isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) utilizes an alternative splice acceptor site 45 nt into exon 3 to generate the 20-kDa isoform (2) which has an internal deletion relative to the predominant 22-kDa isoform (1).
      Source sequence(s)
      V00520
      Consensus CDS
      CCDS45760.1
      UniProtKB/TrEMBL
      B1A4G7
      UniProtKB/Swiss-Prot
      P01241
      Related
      ENSP00000408486, OTTHUMP00000248031, ENST00000458650, OTTHUMT00000417707
      Conserved Domains (1) summary
      cd10285
      Location:35200
      Blast Score: 598
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones
    3. NM_022560.2NP_072054.1  somatotropin isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is missing exon 3 generating an isoform (3) which has an internal deletion relative to the predominant 22-kDa isoform (1).
      Source sequence(s)
      V00520
      Consensus CDS
      CCDS11654.1
      UniProtKB/Swiss-Prot
      P01241
      Related
      ENSP00000343791, OTTHUMP00000260616, ENST00000351388, OTTHUMT00000444558
      Conserved Domains (1) summary
      cl07831
      Location:35175
      Blast Score: 477
      growth_hormone_like; Somatotropin/prolactin hormone family
    4. NM_022561.2NP_072055.1  somatotropin isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is missing exons 3 and 4 generating an isoform (4) which has an internal deletion relative to the predominant 22-kDa isoform (1).
      Source sequence(s)
      V00520
      Consensus CDS
      CCDS42371.1
      UniProtKB/TrEMBL
      B1A4G9
      Conserved Domains (1) summary
      cl07831
      Location:58120
      Blast Score: 280
      growth_hormone_like; Somatotropin/prolactin hormone family
    5. NM_022562.2NP_072056.1  somatotropin isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) is missing exons 2, 3 and 4, leading to a frameshift that generates the shortest isoform (5). The majority of the sequence encoding the signal peptide is missing, including the signal cleavage site. The carboxy terminus of this isoform (5) is unique among all other GH1 isoforms.
      Source sequence(s)
      V00520
      UniProtKB/TrEMBL
      B1A4H0

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p10 Primary Assembly

      Range
      61994563..61996198, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      57362255..57363890, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018928.1 Alternate CHM1_1.0

      Range
      63012353..63013988, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...