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Gene

HK1

hexokinase 1

Summary

Cytogenetic location
10q22.1
Coordinates
Chromosome 10: 69,318,847–69,401,882 (GRCh38)
Exons
18 exons across 83 kb
Protein
917 amino acids
Inheritance
Autosomal recessive
Also known as
HKI
MANE Select transcript
ENST00000359426.7NM_000188.3
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

  • Hyperinsulinism

    • Abnormally high levels of insulin in the blood.

      • 1 GenCC submitter rates it definitive or strong

  • Pyruvate Kinase Deficiency and Other Red Cell Enzyme Disorders

    • Hexokinase DeficiencyAutosomal recessive

      A recessive form of haemolytic anaemia caused by changes in HK1, usually first noticed in infancy or childhood.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the cause guides monitoring for anaemia, gallstones and iron overload.

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How HK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where HK1 sits. HK1 and 13 genes near it on chromosome 10, from 68,860,365 to 69,860,364.Chromosome 1010q22.1p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.369 Mb69.2 Mb69.4 Mb69.6 Mb69.8 MbSTOX1: 68,827,199–68,895,448, forward strandSTOX1DDX50: 68,901,199–68,947,348, forward strandDDX50DDX21: 68,956,135–68,985,417, forward strandDDX21KIFBP: 68,988,732–69,043,544, forward strandKIFBPSRGN: 69,087,579–69,105,696, forward strandSRGNVPS26A: 69,123,512–69,174,412, forward strandVPS26ASUPV3L1: 69,180,234–69,209,108, forward strandSUPV3L1HKDC1: 69,220,292–69,267,569, forward strandHKDC1HK1: 69,318,847–69,401,882, forward strandHK1TACR2: 69,402,885–69,416,923, reverse strandTACR2TSPAN15: 69,451,150–69,507,676, forward strandTSPAN15NEUROG3: 69,571,485–69,573,511, reverse strandNEUROG3FAM241B: 69,630,228–69,633,614, forward strandFAM241BCOL13A1: 69,801,875–69,964,275, forward strandCOL13A1Diagram of HK1: 18 exons on the forward strand of chromosome 10Exon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 9: 4 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 16: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 1: 69,318,847–69,319,010, 164 basesExon 2: 69,343,827–69,343,989, 163 basesExon 3: 69,359,897–69,360,045, 149 basesExon 4: 69,364,783–69,364,902, 120 basesExon 5: 69,368,536–69,368,631, 96 basesExon 6: 69,369,237–69,369,336, 100 basesExon 7: 69,369,441–69,369,624, 184 basesExon 8: 69,376,934–69,377,089, 156 basesExon 9: 69,379,862–69,380,095, 234 basesExon 10: 69,382,487–69,382,791, 305 basesExon 11: 69,384,333–69,384,481, 149 basesExon 12: 69,384,796–69,384,915, 120 basesExon 13: 69,386,323–69,386,418, 96 basesExon 14: 69,389,197–69,389,296, 100 basesExon 15: 69,392,125–69,392,308, 184 basesExon 16: 69,394,950–69,395,105, 156 basesExon 17: 69,398,595–69,398,828, 234 basesExon 18: 69,400,991–69,401,882, 892 bases1246810121416185′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 3.6 kb of the gene's 83 kb; 2,754 of those bases code for the protein.

How a genome test reads HK1

22

positions in HK1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 83 kb of HK1, introns included, not only the 3.6 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.). HK1 gene: hexokinase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/hk1

Vancouver

Dante Labs. HK1 gene: hexokinase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hk1

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