2688 - Gene ResultGH1 Growth Hormone 1 [ (human)] - NCBI

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Create FileAdd to ClipboardAdd to Collections GH1 growth hormone 1 [ Homo sapiens (human) ] Gene ID: 2688, updated on 10-Dec-2024

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Gene Sequences (FASTA) Transcript sequences (FASTA) Protein sequences(FASTA)

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Summary

Go to the top of the page Help 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 mouse all NEW Try the new Gene table Try the new Transcript table

Genomic context

Go to the top of the page Help 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_000017.11

Genomic regions, transcripts, and products

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Genomic Sequence: NC_000017.11 Chromosome 17 Reference GRCh38.p14 Primary Assembly NG_011676.1 RefSeqGene NC_060941.1 Chromosome 17 Alternate T2T-CHM13v2.0 NC_000017.10 Chromosome 17 Reference GRCh37.p13 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

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	Compare labs
Isolated growth hormone deficiency type IB MedGen: C2748571 OMIM: 612781 GeneReviews: Not available	Compare labs
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

• PMC84908P1 (e-PCR)
  • UniSTS:273454

• RH93308 (e-PCR)
  • UniSTS:86333

• D17S1285 (e-PCR)
  • UniSTS:149825

• STS-J03756 (e-PCR)
  • UniSTS:49793

• PMC134699P2 (e-PCR)
  • UniSTS:270739

• PMC134699P3 (e-PCR)
  • UniSTS:270740

• G44343 (e-PCR)
  • UniSTS:95130

• RH77971 (e-PCR)
  • UniSTS:14554

• GHI (e-PCR)
  • UniSTS:266722

• NoName (e-PCR)
  • UniSTS:482286

Homology

• NCBI Orthologs
Orthologs from OrthoDB

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IDA Inferred from Direct Assaymore info	PubMed
enables growth factor activity	IBA Inferred from Biological aspect of Ancestormore info
enables growth factor activity	IDA Inferred from Direct Assaymore info	PubMed
enables growth factor activity	IPI Inferred from Physical Interactionmore info	PubMed
enables growth hormone activity	IDA Inferred from Direct Assaymore info	PubMed
enables growth hormone receptor binding	IBA Inferred from Biological aspect of Ancestormore info
enables growth hormone receptor binding	IDA Inferred from Direct Assaymore info	PubMed
enables growth hormone receptor binding	IPI Inferred from Physical Interactionmore info	PubMed
enables hormone activity	IBA Inferred from Biological aspect of Ancestormore info
enables metal ion binding	IEA Inferred from Electronic Annotationmore info
enables prolactin receptor binding	IDA Inferred from Direct Assaymore info	PubMed
enables prolactin receptor binding	IPI Inferred from Physical Interactionmore info	PubMed
enables protein binding	IPI Inferred from Physical Interactionmore info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ development	IBA Inferred from Biological aspect of Ancestormore info
involved_in bone maturation	IDA Inferred from Direct Assaymore info	PubMed
involved_in cell surface receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assaymore info	PubMed
involved_in cell surface receptor signaling pathway via STAT	IDA Inferred from Direct Assaymore info	PubMed
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assaymore info	PubMed
involved_in growth hormone receptor signaling pathway	IBA Inferred from Biological aspect of Ancestormore info
involved_in growth hormone receptor signaling pathway	IDA Inferred from Direct Assaymore info	PubMed
involved_in growth hormone receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assaymore info	PubMed
acts_upstream_of_or_within positive regulation of D-glucose transmembrane transport	IDA Inferred from Direct Assaymore info	PubMed
acts_upstream_of positive regulation of MAP kinase activity	TAS Traceable Author Statementmore info	PubMed
involved_in positive regulation of insulin-like growth factor receptor signaling pathway	IDA Inferred from Direct Assaymore info	PubMed
involved_in positive regulation of multicellular organism growth	IDA Inferred from Direct Assaymore info	PubMed
involved_in positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assaymore info	PubMed
NOT involved_in positive regulation of receptor internalization	IDA Inferred from Direct Assaymore info	PubMed
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestormore info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assaymore info	PubMed
involved_in response to estradiol	IDA Inferred from Direct Assaymore info	PubMed
involved_in response to nutrient levels	IBA Inferred from Biological aspect of Ancestormore info

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in endosome lumen	TAS Traceable Author Statementmore info
located_in extracellular region	TAS Traceable Author Statementmore info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestormore info
is_active_in extracellular space	IDA Inferred from Direct Assaymore info	PubMed
located_in extracellular space	IDA Inferred from Direct Assaymore info	PubMed
part_of growth hormone receptor complex	IDA Inferred from Direct Assaymore info	PubMed

General protein information

Go to the top of the page Help Preferred Names somatotropin Names growth hormone B5 pituitary growth hormone

NCBI Reference Sequences (RefSeq)

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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_000515.5 → 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 cd10285Location: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 cd10285Location: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 cd10285Location: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

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

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

These RefSeqs were suppressed for the cited reason(s). Suppressed RefSeqs do not appear in BLAST databases, related sequence links, or BLAST links (BLink), but may still be retrieved by clicking on their accession.version below.

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.

Related sequences

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Nucleotide		Protein
Heading	Accession and Version

Protein Accession	Links
	GenPept Link	UniProtKB Link
P01241.2	GenPept	UniProtKB/Swiss-Prot:P01241

Additional links

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Locus-specific Databases

• GH1 database

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information

• Interologous Interaction Database
• Interologous Interaction Database
• MilliporeSigma
• Gh1 products

Medical

• MedlinePlus Health Information
• GH1 gene

Molecular Biology Databases

• Bgee database
• GH1 gene expression
• BioGPS
• BioGPS
• BioGRID Open Repository of CRISPR Screens (ORCS)
• BioGRID CRISPR Screen Phenotypes (11 hits/1221 screens)
• Domain Mapping of Disease Mutations
• GH1
• Eukaryotic Promoter Database
• GH1_1
• GenAge Database of Aging Related Genes
• GenAge Database of Aging Related Genes
• GlyGen glycoinformatics resource
• GlyGen glycoinformatics resource
• Human Gene Mutation Database
• Human Gene Mutation Database
• Human eFP Browser
• Human eFP Browser
• Human eFP Browser
• Human eFP Browser
• Ingenuity Pathways Analysis
• Ingenuity Pathways Analysis
• InnateDB
• InnateDB
• InterMine
• InterMine
• Kyoto Encyclopedia of Genes and Genomes
• Kyoto Encyclopedia of Genes and Genomes
• OMA Browser: Orthologous MAtrix
• OMA Browser: Orthologous MAtrix
• OMA Browser: Orthologous MAtrix
• OMA Browser: Orthologous MAtrix
• OrthoDB catalog of orthologs
• Orthologs
• Pharmacogenomics Knowledge Base
• Annotated Pharmacogenomic Information for GH1 [PharmGKB]
• PhosphoSitePlus
• PhosphoSitePlus® - comprehensive post-translational modification resource
• The Gene Wiki
• The Gene Wiki
• The Weizmann Institute of Science GeneCards and MalaCards databases
• GeneCard for GH1

Research Materials

• Addgene Non-profit plasmid repository
• Get Plasmids - Addgene
• Bio-Techne
• Growth Hormone Proteins
• Growth Hormone Antibodies
• Growth Hormone ELISA Kits
• ExactAntigen/Labome
• reagent review
• reagents
• GenScript latest version of gene cDNA ORF Clone
• GenScript latest version of gene cDNA ORF Clone
• GeneCopoeia Inc.
• Order TALEN/CRISPR clones
• Order miRNA target clones
• Order full-length ORF clone
• GeneTex Inc
• Find Recombinant Proteins and Peptides
• Find Quality Antibodies
• OriGene
• Order GH1 cDNA clone/Protein/Antibody/RNAi
• Order Gh cDNA clone/Protein/Antibody/RNAi

Tools

• GeneMANIA
• GeneMANIA

Miscellaneous

• Reactome
• Reactome Event:Immune System
• Reactome Entity:P01241

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Supplemental Content

Table of contents

• Summary
• Genomic context
• Genomic regions, transcripts, and products
• Bibliography
• Phenotypes
• Variation
• HIV-1 interactions
• Pathways from PubChem
• Interactions
• General gene information Markers, Homology, Gene Ontology
• General protein information
• NCBI Reference Sequences (RefSeq)
• Related sequences
• Additional links Locus-specific Databases

Genome Browsers

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Related information

• Order cDNA clone Order cDNA clone
• 3D structures 3D structure of a gene
• BioAssay by Target (List) BioAssays related to the gene by protein target or RNAi target
• BioAssay by Target (Summary) Summarized PubChem Data on the gene, showing the active data by default
• BioAssay, by Gene target PubChem BioAssays done on the Gene target
• BioAssays, RNAi Target, Active BioAssays that contain the gene as the target of a RNAi reagent, which is identified as a hit in a RNAi screening and flagged as "active" in the corresponding BioAssay record
• BioAssays, RNAi Target, Tested BioAssays that contain the gene as the target of a RNAi reagent
• BioProjects BioProjects related to a gene
• BioSystems BioSystems
• CCDS Link to CCDS
• ClinVar Related medical variations
• Conserved Domains Related CDD
• dbVar Link from Gene to dbVar
• Full text in PMC PMC links
• Full text in PMC_nucleotide Full text in PubMedCentral identified from shared sequence links
• Functional Class Functional class of the sequence domain architecture
• Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side
• Genome Related Genome
• GEO Profiles Related GEO
• GTR Tests for this gene in the NIH Genetic Testing Registry
• HomoloGene Related HomoloGene
• MedGen Related information in MedGen
• Nucleotide Link to related Nucleotide entry
• OMIM Link to related OMIM entry
• Probe Related Probe entry
• Protein Link to related protein entry
• PubChem Compound PubChem Compounds
• PubChem Substance PubChem Substances
• PubMed Link to related PubMed entry
• PubMed (GeneRIF) Link to related PubMed article from GeneRIFs
• PubMed (OMIM) Gene links to PubMed derived from omim_pubmed_cited links
• PubMed(nucleotide/PMC) Citations in PubMed identified from shared sequence and PMC links.
• RefSeq Proteins Link to Protein RefSeqs
• RefSeq RNAs Link to Nucleotide RefSeq RNAs
• RefSeqGene Link to Nucleotide RefSeqGenes
• Related gene-specific medical variations Related medical variations
• SNP Related SNP records
• Taxonomy Link to related taxonomy entry
• Variation Viewer Related Variants

Links to other resources

• HGNC
• Ensembl
• AllianceGenome
• AceView
• GH1 database
• UCSC
• MGC
• HuGE Navigator
• KEGG
• Reactome

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