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Gene

POLR1C

RNA polymerase I and III subunit C

Summary

Cytogenetic location
6p21.1
Coordinates
Chromosome 6: 43,517,089–43,521,513 (GRCh38)
Exons
9 exons across 4.4 kb
Protein
346 amino acids
Inheritance
Autosomal recessive
Also known as
RPA40, RPA39, RPA5, RPAC1, AC40, RPC40
MANE Select transcript
ENST00000642195.1NM_203290.4
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

  • Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies

    • POLR3-related (4H) leukodystrophyAutosomal recessive

      Changes in POLR3A, POLR3B, POLR1C or POLR3K cause hypomyelination with problems of balance and coordination, often with dental anomalies and delayed puberty (hypomyelination, hypodontia and hypogonadotropic hypogonadism).

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

      Diagnosis allows monitoring of dental development and puberty, and hormone treatment where needed.

  • Treacher Collins Syndrome

    • A condition of facial development (mandibulofacial dysostosis) caused by changes in TCOF1, POLR1D, POLR1C or POLR1B, inherited dominantly or, for some genes, recessively; features vary widely, so mildly affected parents are often not recognised.

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

      Knowing about it supports management of hearing and breathing and informs counselling about recurrence in a family.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

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

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

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 POLR1C is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 6, with a bracket where POLR1C sits. POLR1C and 27 genes near it on chromosome 6, from 43,019,301 to 44,019,300.Chromosome 66p21.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2743.2 Mb43.4 Mb43.6 Mb43.8 Mb44 MbKLHDC3: 43,014,103–43,021,314, forward strandRRP36: 43,021,588–43,034,156, forward strandCUL7: 43,037,617–43,053,943, reverse strandCUL7KLC4: 43,040,777–43,075,099, forward strandKLC4: 43,051,066–43,058,185, reverse strandMRPL2: 43,054,029–43,059,464, reverse strandMRPL2PTK7: 43,076,256–43,161,719, forward strandPTK7SRF: 43,170,910–43,181,506, forward strandSRFCUL9: 43,182,166–43,224,587, forward strandCUL9DNPH1: 43,225,629–43,229,490, reverse strandDNPH1TTBK1: 43,243,481–43,288,258, forward strandTTBK1SLC22A7: 43,295,694–43,305,543, forward strandSLC22A7CRIP3: 43,299,710–43,308,878, reverse strandCRIP3ZNF318: 43,307,134–43,369,687, reverse strandZNF318ABCC10: 43,427,366–43,451,783, forward strandABCC10DLK2: 43,450,351–43,456,632, reverse strandDLK2TJAP1: 43,477,523–43,506,562, forward strandTJAP1LRRC73: 43,506,062–43,510,388, reverse strandLRRC73YIPF3: 43,511,200–43,516,985, reverse strandYIPF3POLR1C: 43,517,089–43,521,513, forward strandPOLR1CXPO5: 43,522,334–43,576,091, reverse strandPOLH: 43,575,537–43,628,361, forward strandPOLHGTPBP2: 43,605,316–43,629,291, reverse strandGTPBP2MAD2L1BP: 43,629,494–43,640,960, forward strandMAD2L1BPRSPH9: 43,644,229–43,674,358, forward strandRSPH9MRPS18A: 43,669,978–43,687,954, reverse strandMRPS18AVEGFA: 43,770,184–43,786,487, forward strandVEGFALINC03040: 44,000,580–44,007,830, forward strandLINC03040Diagram of POLR1C: 9 exons on the forward strand of chromosome 6Exon 1: 1 known disease-causing siteExon 2: 6 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 1: 43,517,089–43,517,178, 90 basesExon 2: 43,517,306–43,517,377, 72 basesExon 3: 43,519,333–43,519,440, 108 basesExon 4: 43,519,706–43,519,838, 133 basesExon 5: 43,520,066–43,520,185, 120 basesExon 6: 43,520,275–43,520,427, 153 basesExon 7: 43,520,625–43,520,774, 150 basesExon 8: 43,520,932–43,521,048, 117 basesExon 9: 43,521,182–43,521,513, 332 bases1234567895′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 1.3 kb of the gene's 4.4 kb; 1,041 of those bases code for the protein.

How a genome test reads POLR1C

54

positions in POLR1C 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 4.4 kb of POLR1C, introns included, not only the 1.3 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.). POLR1C gene: RNA polymerase I and III subunit C. Retrieved 16 October 2026, from https://dantelabs.com/genes/polr1c

Vancouver

Dante Labs. POLR1C gene: RNA polymerase I and III subunit C [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/polr1c

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