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GH1 growth hormone 1 [ Homo sapiens (human) ]

Gene ID: 2688, updated on 20-Feb-2017
Official Symbol
GH1provided by HGNC
Official Full Name
growth hormone 1provided by HGNC
Primary source
HGNC:HGNC:4261
See related
Ensembl:ENSG00000259384 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; GHB5; 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]
Orthologs
Location:
17q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (63917193..63918852, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61994560..61996206, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene chorionic somatomammotropin hormone 1 Neighboring gene chorionic somatomammotropin hormone like 1 Neighboring gene CD79b molecule Neighboring gene sodium voltage-gated channel alpha subunit 4 Neighboring gene uncharacterized LOC105371858

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • 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 biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • 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
  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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 IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
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
PubMed 
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 signaling 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 IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endosome lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
somatotropin
Names
growth hormone B5
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
    4987..6646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000515.4NP_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, AV753220, BC090045
    Consensus CDS
    CCDS11653.1
    UniProtKB/Swiss-Prot
    P01241
    UniProtKB/TrEMBL
    B1A4G6
    Related
    ENSP00000312673, OTTHUMP00000248032, ENST00000323322, OTTHUMT00000417708
    Conserved Domains (1) summary
    cd10285
    Location:35215
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones
  2. NM_022559.3NP_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, AV753220, BC062475
    Consensus CDS
    CCDS45760.1
    UniProtKB/Swiss-Prot
    P01241
    UniProtKB/TrEMBL
    B1A4G7
    Related
    ENSP00000408486, OTTHUMP00000248031, ENST00000458650, OTTHUMT00000417707
    Conserved Domains (1) summary
    cd10285
    Location:35200
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones
  3. NM_022560.3NP_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, AV753220, CD108592
    Consensus CDS
    CCDS11654.1
    UniProtKB/Swiss-Prot
    P01241
    Related
    ENSP00000343791, OTTHUMP00000260616, ENST00000351388, OTTHUMT00000444558
    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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

    Range
    63917193..63918852 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    62058472..62060131 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.
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