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Gene

GH1

growth hormone 1

Summary

Cytogenetic location
17q23.3
Coordinates
Chromosome 17: 63,917,203–63,918,839 (GRCh38)
Exons
5 exons across 1.6 kb
Protein
217 amino acids
Also known as
hGH, GH-N, GHN, GH, hGH-N
MANE Select transcript
ENST00000323322.10NM_000515.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • 3 GenCC submitters rate it definitive or strong

  • Non-Acquired Combined Pituitary Hormone Deficiency

    • Combined pituitary hormone deficiency, genetic form

      Inherited deficiency of several pituitary hormones, including PROP1, POU1F1, HESX1 and related causes.

      • 3 GenCC submitters rate it definitive or strong

How GH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where GH1 sits. GH1 and 29 genes near it on chromosome 17, from 63,418,021 to 64,418,020.Chromosome 1717q23.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.363.6 Mb63.8 Mb64 Mb64.2 Mb64.4 MbTANC2: 62,966,201–63,427,703, forward strandTANC2CYB561: 63,432,298–63,447,108, reverse strandCYB561ACE: 63,477,058–63,498,380, forward strandACE: 63,484,823–63,521,848, forward strandKCNH6: 63,523,310–63,548,987, forward strandKCNH6DCAF7: 63,550,222–63,594,286, forward strandDCAF7: 63,550,603–63,608,347, forward strandTACO1: 63,600,879–63,612,023, forward strandTACO1MAP3K3: 63,622,379–63,696,310, forward strandMAP3K3STRADA: 63,682,336–63,742,005, reverse strandSTRADALIMD2: 63,695,883–63,701,183, reverse strandLIMD2: 63,702,845–63,752,097, reverse strandCCDC47: 63,745,250–63,776,351, reverse strandCCDC47DDX42: 63,773,603–63,820,451, forward strandDDX42FTSJ3: 63,819,113–63,830,012, reverse strandFTSJ3PSMC5: 63,827,082–63,832,244, forward strandPSMC5SMARCD2: 63,832,078–63,843,065, reverse strandSMARCD2CSH2: 63,872,007–63,873,769, reverse strandCSH2GH2: 63,880,205–63,881,970, reverse strandGH2CSH1: 63,894,906–63,896,667, reverse strandCSHL1: 63,909,596–63,911,348, reverse strandCSHL1GH1: 63,917,203–63,918,839, reverse strandGH1: 63,917,203–63,931,385, reverse strandCD79B: 63,928,738–63,932,629, reverse strandCD79BSCN4A: 63,938,554–63,972,918, reverse strandPRR29: 63,998,344–64,004,305, forward strandPRR29ICAM2: 64,002,594–64,020,640, reverse strandICAM2ERN1: 64,039,080–64,130,819, reverse strandERN1TEX2: 64,147,227–64,263,293, reverse strandTEX2PECAM1: 64,319,415–64,431,594, reverse strandPECAM1Diagram of GH1: 5 exons on the reverse strand of chromosome 17Exon 4: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 5: 63,917,203–63,917,506, 304 basesExon 4: 63,917,760–63,917,924, 165 basesExon 3: 63,918,017–63,918,136, 120 basesExon 2: 63,918,346–63,918,506, 161 basesExon 1: 63,918,767–63,918,839, 73 bases543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.8 kb of the gene's 1.6 kb; 654 of those bases code for the protein.

How a genome test reads GH1

5

positions in GH1 where ClinVar classes a change as pathogenic or likely pathogenic

5 of them (100%) fall in regions short reads find hard.

  • Segmental duplications (5 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 1.6 kb of GH1, introns included, not only the 0.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GH1 gene: growth hormone 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gh1

Vancouver

Dante Labs. GH1 gene: growth hormone 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gh1

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