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Gene

TPK1

thiamin pyrophosphokinase 1

Summary

Cytogenetic location
7q35
Coordinates
Chromosome 7: 144,451,941–144,836,053 (GRCh38)
Exons
9 exons across 384.1 kb
Protein
243 amino acids
Inheritance
Autosomal recessive
Also known as
HTPK1, PP20
MANE Select transcript
ENST00000360057.7NM_022445.4
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

  • Thiamine Transporter and Metabolism Disorders

    • Disorders of Thiamine Transport and MetabolismAutosomal recessive

      Inherited defects in thiamine transporters or thiamine activation, caused by genes such as SLC19A2, SLC19A3, TPK1 and SLC25A19, which can cause anaemia, diabetes and hearing loss or episodes of severe brain dysfunction.

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

      Knowing allows early treatment with high-dose thiamine, and biotin where appropriate, which can prevent or reduce serious complications in several of these disorders.

Broader groupings

  • Leigh Syndrome

    • One of 69 genes linked to it

      A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

      • ClinGen rates the link moderate

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 TPK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where TPK1 sits. TPK1 and 12 genes near it on chromosome 7, from 144,067,828 to 145,220,166.Chromosome 77q35p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3144.2 Mb144.4 Mb144.6 Mb144.8 Mb145 Mb145.2 MbOR2A25: 144,069,811–144,075,870, forward strandOR2A25OR2A12: 144,086,278–144,098,953, forward strandOR2A12OR2A2: 144,109,583–144,110,539, forward strandOR2A2OR2A14: 144,123,176–144,131,188, forward strandOR2A14ARHGEF35: 144,182,888–144,195,879, reverse strandARHGEF35CTAGE4: 144,183,466–144,186,080, forward strandCTAGE4OR2A42: 144,228,244–144,239,605, reverse strandOR2A42OR2A7: 144,254,975–144,264,792, reverse strandOR2A7CTAGE8: 144,266,674–144,269,288, reverse strandCTAGE8OR2A1: 144,312,419–144,322,737, forward strandOR2A1ARHGEF5: 144,355,288–144,380,632, forward strandARHGEF5NOBOX: 144,396,894–144,403,795, reverse strandNOBOXTPK1: 144,451,941–144,836,053, reverse strandTPK1Diagram of TPK1: 9 exons on the reverse strand of chromosome 7Exon 9: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 9: 144,451,941–144,453,663, 1,723 basesExon 8: 144,548,491–144,548,602, 112 basesExon 7: 144,591,423–144,591,569, 147 basesExon 6: 144,623,166–144,623,261, 96 basesExon 5: 144,648,807–144,648,879, 73 basesExon 4: 144,682,909–144,682,978, 70 basesExon 3: 144,765,880–144,765,951, 72 basesExon 2: 144,835,560–144,835,618, 59 basesExon 1: 144,835,967–144,836,053, 87 bases9515′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 2.4 kb of the gene's 384.1 kb; 732 of those bases code for the protein.

How a genome test reads TPK1

24

positions in TPK1 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 384.1 kb of TPK1, introns included, not only the 2.4 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.). TPK1 gene: thiamin pyrophosphokinase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/tpk1

Vancouver

Dante Labs. TPK1 gene: thiamin pyrophosphokinase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tpk1

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