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Gene

CPS1

carbamoyl-phosphate synthase 1

Summary

Cytogenetic location
2q34
Coordinates
Chromosome 2: 210,556,599–210,679,107 (GRCh38)
Exons
38 exons across 122.5 kb
Protein
1,500 amino acids
Also known as
GATD6
MANE Select transcript
ENST00000233072.10NM_001875.5
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 report relevant to this gene

  • Urea Cycle Disorder

    • A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

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

      Nitrogen scavenger therapy (sodium benzoate, glycerol phenylbutyrate/Ravicti); protein-restricted diet with essential amino acid supplementation; emergency hyperammonemia protocols; liver transplantation (curative); mRNA therapy trials for OTC; carglumic acid for NAGS deficiency

How CPS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where CPS1 sits. CPS1 and 4 genes near it on chromosome 2, from 210,117,853 to 211,117,852.Chromosome 22q34p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3210.2 Mb210.4 Mb210.6 Mb210.8 Mb211 MbKANSL1L: 210,021,026–210,172,182, reverse strandKANSL1LACADL: 210,187,000–210,225,447, reverse strandACADLMYL1: 210,290,145–210,315,180, reverse strandMYL1LANCL1: 210,424,562–210,477,652, reverse strandLANCL1CPS1: 210,556,599–210,679,107, forward strandCPS1Diagram of CPS1: 38 exons on the forward strand of chromosome 2Exon 1: 6 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 10: 6 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 13: 10 known disease-causing sitesExon 14: 19 known disease-causing sitesExon 15: 10 known disease-causing sitesExon 16: 13 known disease-causing sitesExon 17: 13 known disease-causing sitesExon 18: 19 known disease-causing sitesExon 19: 12 known disease-causing sitesExon 20: 23 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 22: 20 known disease-causing sitesExon 23: 6 known disease-causing sitesExon 24: 5 known disease-causing sitesExon 25: 13 known disease-causing sitesExon 26: 15 known disease-causing sitesExon 27: 8 known disease-causing sitesExon 28: 7 known disease-causing sitesExon 29: 8 known disease-causing sitesExon 30: 10 known disease-causing sitesExon 31: 4 known disease-causing sitesExon 32: 12 known disease-causing sitesExon 33: 9 known disease-causing sitesExon 34: 6 known disease-causing sitesExon 35: 4 known disease-causing sitesExon 36: 7 known disease-causing sitesExon 37: 5 known disease-causing sitesExon 1: 210,556,599–210,556,859, 261 basesExon 2: 210,573,298–210,573,407, 110 basesExon 3: 210,576,346–210,576,490, 145 basesExon 4: 210,577,421–210,577,510, 90 basesExon 5: 210,579,714–210,579,770, 57 basesExon 6: 210,582,617–210,582,709, 93 basesExon 7: 210,588,058–210,588,147, 90 basesExon 8: 210,590,106–210,590,234, 129 basesExon 9: 210,590,800–210,590,906, 107 basesExon 10: 210,591,831–210,591,969, 139 basesExon 11: 210,592,879–210,592,956, 78 basesExon 12: 210,594,508–210,594,606, 99 basesExon 13: 210,595,487–210,595,582, 96 basesExon 14: 210,599,372–210,599,561, 190 basesExon 15: 210,600,555–210,600,712, 158 basesExon 16: 210,602,202–210,602,330, 129 basesExon 17: 210,605,102–210,605,246, 145 basesExon 18: 210,606,731–210,606,941, 211 basesExon 19: 210,608,361–210,608,559, 199 basesExon 20: 210,612,117–210,612,293, 177 basesExon 21: 210,616,423–210,616,541, 119 basesExon 22: 210,637,702–210,637,843, 142 basesExon 23: 210,639,150–210,639,215, 66 basesExon 24: 210,639,996–210,640,059, 64 basesExon 25: 210,642,484–210,642,665, 182 basesExon 26: 210,647,863–210,648,057, 195 basesExon 27: 210,648,473–210,648,540, 68 basesExon 28: 210,650,363–210,650,438, 76 basesExon 29: 210,654,025–210,654,102, 78 basesExon 30: 210,656,525–210,656,632, 108 basesExon 31: 210,658,599–210,658,688, 90 basesExon 32: 210,660,485–210,660,655, 171 basesExon 33: 210,663,123–210,663,197, 75 basesExon 34: 210,668,186–210,668,284, 99 basesExon 35: 210,674,902–210,674,961, 60 basesExon 36: 210,675,728–210,675,840, 113 basesExon 37: 210,677,007–210,677,136, 130 basesExon 38: 210,677,887–210,679,107, 1,221 bases15101520253035385′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 5.8 kb of the gene's 122.5 kb; 4,503 of those bases code for the protein.

How a genome test reads CPS1

395

positions in CPS1 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 122.5 kb of CPS1, introns included, not only the 5.8 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.). CPS1 gene: carbamoyl-phosphate synthase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cps1

Vancouver

Dante Labs. CPS1 gene: carbamoyl-phosphate synthase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cps1

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