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Gene

PCK1

phosphoenolpyruvate carboxykinase 1

Summary

Cytogenetic location
20q13.31
Coordinates
Chromosome 20: 57,561,110–57,568,121 (GRCh38)
Exons
10 exons across 7 kb
Protein
622 amino acids
Inheritance
Autosomal recessive
Also known as
PEPCK-C
MANE Select transcript
ENST00000319441.6NM_002591.4
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 report relevant to this gene

  • Hereditary Fructose Intolerance & Gluconeogenesis Defects

    • Cytosolic Phosphoenolpyruvate Carboxykinase DeficiencyAutosomal recessive

      Caused by variants in PCK1, which can cause episodes of low blood sugar, often during illness or fasting.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows avoidance of prolonged fasting and prompt treatment of low blood sugar.

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 PCK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 20, with a bracket where PCK1 sits. PCK1 and 8 genes near it on chromosome 20, from 57,064,616 to 58,064,615.Chromosome 2020q13.31p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3357.2 Mb57.4 Mb57.6 Mb57.8 Mb58 MbBMP7: 57,168,748–57,266,680, reverse strandBMP7SPO11: 57,329,755–57,343,994, forward strandSPO11RAE1: 57,351,218–57,380,114, forward strandRAE1RBM38: 57,391,389–57,409,333, forward strandRBM38HMGB1P1: 57,487,959–57,495,366, reverse strandHMGB1P1CTCFL: 57,495,966–57,525,652, reverse strandCTCFLPCK1: 57,561,110–57,568,121, forward strandPCK1ZBP1: 57,603,575–57,620,576, reverse strandZBP1PMEPA1: 57,648,392–57,711,536, reverse strandPMEPA1Diagram of PCK1: 10 exons on the forward strand of chromosome 20Exon 5: 2 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 1: 57,561,110–57,561,203, 94 basesExon 2: 57,561,372–57,561,635, 264 basesExon 3: 57,562,071–57,562,252, 182 basesExon 4: 57,562,696–57,562,899, 204 basesExon 5: 57,563,028–57,563,215, 188 basesExon 6: 57,563,565–57,563,727, 163 basesExon 7: 57,564,169–57,564,393, 225 basesExon 8: 57,564,482–57,564,613, 132 basesExon 9: 57,565,040–57,565,135, 96 basesExon 10: 57,565,350–57,568,121, 2,772 bases123456789105′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 4.3 kb of the gene's 7 kb; 1,869 of those bases code for the protein.

How a genome test reads PCK1

8

positions in PCK1 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 7 kb of PCK1, introns included, not only the 4.3 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.). PCK1 gene: phosphoenolpyruvate carboxykinase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/pck1

Vancouver

Dante Labs. PCK1 gene: phosphoenolpyruvate carboxykinase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pck1

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