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Gene

POLA1

DNA polymerase alpha 1, catalytic subunit

Summary

Cytogenetic location
Xp22.11-p21.3
Coordinates
Chromosome X: 24,693,918–24,996,986 (GRCh38)
Exons
37 exons across 303.1 kb
Protein
1,468 amino acids
Inheritance
Autosomal dominant X-linked recessive
Also known as
p180
Previous symbols
POLA, NSX
MANE Select transcript
ENST00000379068.8NM_001330360.2
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

  • Rare Monogenic Autoinflammatory Diseases

    • PTPN2-related autoinflammation and autoimmunityAutosomal dominant

      Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.

      • ClinGen rates the link moderate
      • 3 GenCC submitters rate it definitive or strong

  • Type I Interferonopathies

    • X-linked reticulate pigmentary disorderX-linked recessive

      Net-like skin pigmentation in males with lung, eye and gut inflammation, caused by variants in POLA1.

      • ClinGen rates the link moderate
      • 3 GenCC submitters rate it definitive or strong

Broader groupings

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How POLA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where POLA1 sits. POLA1 and 4 genes near it on chromosome X, from 24,345,452 to 25,345,451.Chromosome XXp22.11-p21.3p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2824.4 Mb24.6 Mb24.8 Mb25 Mb25.2 MbSUPT20HL1: 24,360,639–24,367,839, forward strandSUPT20HL1PDK3: 24,465,244–24,550,466, forward strandPDK3PCYT1B: 24,558,087–24,672,904, reverse strandPCYT1BPOLA1: 24,693,918–24,996,986, forward strandPOLA1ARX: 25,003,694–25,016,420, reverse strandARXDiagram of POLA1: 37 exons on the forward strand of chromosome XExon 12: 1 known disease-causing siteExon 35: 1 known disease-causing siteExon 1: 24,693,918–24,694,004, 87 basesExon 2: 24,699,425–24,699,549, 125 basesExon 3: 24,703,251–24,703,347, 97 basesExon 4: 24,704,389–24,704,469, 81 basesExon 5: 24,714,554–24,714,669, 116 basesExon 6: 24,715,141–24,715,203, 63 basesExon 7: 24,716,362–24,716,454, 93 basesExon 8: 24,716,884–24,716,971, 88 basesExon 9: 24,717,290–24,717,491, 202 basesExon 10: 24,717,580–24,717,758, 179 basesExon 11: 24,723,155–24,723,267, 113 basesExon 12: 24,724,335–24,724,451, 117 basesExon 13: 24,725,981–24,726,055, 75 basesExon 14: 24,726,933–24,727,071, 139 basesExon 15: 24,727,782–24,727,936, 155 basesExon 16: 24,732,370–24,732,454, 85 basesExon 17: 24,733,755–24,733,816, 62 basesExon 18: 24,735,399–24,735,488, 90 basesExon 19: 24,737,625–24,737,741, 117 basesExon 20: 24,739,375–24,739,550, 176 basesExon 21: 24,741,375–24,741,504, 130 basesExon 22: 24,742,002–24,742,121, 120 basesExon 23: 24,743,230–24,743,329, 100 basesExon 24: 24,745,418–24,745,542, 125 basesExon 25: 24,748,311–24,748,460, 150 basesExon 26: 24,748,870–24,748,992, 123 basesExon 27: 24,809,898–24,809,930, 33 basesExon 28: 24,810,708–24,810,800, 93 basesExon 29: 24,812,658–24,812,863, 206 basesExon 30: 24,814,979–24,815,111, 133 basesExon 31: 24,821,452–24,821,583, 132 basesExon 32: 24,826,427–24,826,601, 175 basesExon 33: 24,841,652–24,841,830, 179 basesExon 34: 24,843,546–24,843,677, 132 basesExon 35: 24,888,006–24,888,122, 117 basesExon 36: 24,930,453–24,930,549, 97 basesExon 37: 24,995,805–24,996,986, 1,182 bases1102030375′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 5.5 kb of the gene's 303.1 kb; 4,407 of those bases code for the protein.

How a genome test reads POLA1

4

positions in POLA1 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 303.1 kb of POLA1, introns included, not only the 5.5 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.). POLA1 gene: DNA polymerase alpha 1, catalytic subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/pola1

Vancouver

Dante Labs. POLA1 gene: DNA polymerase alpha 1, catalytic subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pola1

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