GH1 growth hormone 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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 Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
Autocrine/paracrine growth hormone in cancer progression.
Title: Autocrine/paracrine growth hormone in cancer progression.
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

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

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 more info	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

NG_011676.1 RefSeqGene

Range

5000..6636

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

63917203..63918839 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

64787962..64789598 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.