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GH1 growth hormone 1 [ Homo sapiens (human) ]

Gene ID: 2688, updated on 27-Dec-2024

Summary

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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
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Genomic context

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See GH1 in Genome Data Viewer
Location:
17q23.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63917203..63918839, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64787962..64789598, complement)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Suppression of FAT/CD36 mRNA by human growth hormone in pancreatic β-cells. Dalgaard LT, et al. Biochem Biophys Res Commun, 2011 Jul 1. PMID 21679697
  2. A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity. Giordano M, et al. Mol Cell Endocrinol, 2006 Apr 25. PMID 16517055
  3. Growth hormone regulation of sex-dependent liver gene expression. Waxman DJ, et al. Mol Endocrinol, 2006 Nov. PMID 16543404
  4. Effect of growth hormone treatment on pancreatic inflammation, oxidative stress, and apoptosis related to aging in SAMP8 mice. Cuesta S, et al. Rejuvenation Res, 2011 Oct. PMID 21958002
  5. Growth hormone and premature atherosclerosis in childhood obesity. Smotkin-Tangorra M, et al. J Pediatr Endocrinol Metab, 2006 Apr. PMID 16759030

See all (478) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II.
    Title: The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II.
  2. GH and IGF-1 in skin interstitial fluid and blood are associated with heat loss responses in exercising young adults.
    Title: GH and IGF-1 in skin interstitial fluid and blood are associated with heat loss responses in exercising young adults.
  3. Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
    Title: Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
  4. Growth Hormone, Atherosclerosis and Peripheral Arterial Disease: Exploring the Spectrum from Acromegaly to Growth Hormone Deficiency.
    Title: Growth Hormone, Atherosclerosis and Peripheral Arterial Disease: Exploring the Spectrum from Acromegaly to Growth Hormone Deficiency.
  5. Brain white matter alterations in young adult male patients with childhood-onset growth hormone deficiency: a diffusion tensor imaging study.
    Title: Brain white matter alterations in young adult male patients with childhood-onset growth hormone deficiency: a diffusion tensor imaging study.
  6. Growth hormone and testosterone delay vertebral fractures in boys with muscular dystrophy on chronic glucocorticoids.
    Title: Growth hormone and testosterone delay vertebral fractures in boys with muscular dystrophy on chronic glucocorticoids.
  7. Insulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH-IGF-1 Axis.
    Title: Insulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH-IGF-1 Axis.
  8. Low growth hormone secretion associated with post-acute sequelae SARS-CoV-2 infection (PASC) neurologic symptoms: A case-control pilot study.
    Title: Low growth hormone secretion associated with post-acute sequelae SARS-CoV-2 infection (PASC) neurologic symptoms: A case-control pilot study.
  9. Autocrine/paracrine growth hormone in cancer progression.
    Title: Autocrine/paracrine growth hormone in cancer progression.
  10. Approach to the Patient: Case Studies in Pediatric Growth Hormone Deficiency and Their Management.
    Title: Approach to the Patient: Case Studies in Pediatric Growth Hormone Deficiency and Their Management.
Submit: New GeneRIF Correction See all GeneRIFs (380)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Ateleiotic dwarfism
MedGen: C0342573 OMIM: 262400 GeneReviews: Not available
Compare labs
Autosomal dominant isolated somatotropin deficiency
MedGen: C0271567 OMIM: 173100 GeneReviews: Not available
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Isolated growth hormone deficiency type IB
MedGen: C2748571 OMIM: 612781 GeneReviews: Not available
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Short stature due to growth hormone qualitative anomaly
MedGen: C1849779 OMIM: 262650 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables growth factor activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables growth hormone activity IDA
Inferred from Direct Assay
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 cell surface receptor signaling pathway via JAK-STAT IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell surface receptor signaling pathway via STAT 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 
involved_in growth hormone receptor signaling pathway via JAK-STAT IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of D-glucose transmembrane transport 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 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 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
  
is_active_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
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

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Preferred Names
somatotropin
Names
growth hormone B5
pituitary growth hormone

NCBI Reference Sequences (RefSeq)

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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_000515.5 → NP_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:35 → 215
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

  2. NM_022559.4 → NP_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:35 → 200
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

  3. NM_022560.4 → NP_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:35 → 175
    somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P01241.2 GenPept UniProtKB/Swiss-Prot:P01241

Gene LinkOut

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