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Gene

DKC1

dyskerin pseudouridine synthase 1

Summary

Cytogenetic location
Xq28
Coordinates
Chromosome X: 154,762,864–154,777,689 (GRCh38)
Exons
15 exons across 14.8 kb
Protein
514 amino acids
Also known as
XAP101, dyskerin, NAP57, NOLA4, Cbf5
Previous symbols
DKC
MANE Select transcript
ENST00000369550.10NM_001363.5
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

  • Dyskeratosis Congenita

    • Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

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

How DKC1 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 DKC1 sits. DKC1 and 34 genes near it on chromosome X, from 154,270,277 to 155,270,276.Chromosome XXq28p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28154.4 Mb154.6 Mb154.8 Mb155 Mb155.2 MbOPN1MW3: 154,257,582–154,271,090, forward strandOPN1MW3TEX28: 154,271,265–154,295,853, reverse strandTEX28TKTL1: 154,295,795–154,330,350, forward strandTKTL1FLNA: 154,348,524–154,374,643, reverse strandEMD: 154,379,205–154,381,574, forward strandEMDRPL10: 154,389,955–154,409,168, forward strandRPL10DNASE1L1: 154,401,236–154,412,119, reverse strandDNASE1L1TAFAZZIN: 154,409,456–154,421,726, forward strandTAFAZZINATP6AP1: 154,428,618–154,436,517, forward strandGDI1: 154,436,600–154,443,467, forward strandFAM50A: 154,444,103–154,450,655, forward strandPLXNA3: 154,458,275–154,477,779, forward strandLAGE3: 154,477,598–154,479,291, reverse strandLAGE3UBL4A: 154,483,717–154,486,661, reverse strandUBL4ASLC10A3: 154,487,306–154,490,690, reverse strandSLC10A3FAM3A: 154,505,019–154,516,882, reverse strandFAM3AG6PD: 154,517,825–154,547,584, reverse strandG6PDIKBKG: 154,541,179–154,568,543, forward strandIKBKGCTAG1A: 154,585,133–154,586,816, forward strandCTAG1ACTAG1B: 154,617,609–154,619,282, reverse strandCTAG1BCTAG2: 154,651,972–154,653,579, reverse strandCTAG2GAB3: 154,675,249–154,751,583, reverse strandGAB3DKC1: 154,762,864–154,777,689, forward strandDKC1MPP1: 154,778,684–154,821,039, reverse strandMPP1SMIM9: 154,823,348–154,834,662, reverse strandSMIM9F8: 154,835,788–155,026,940, reverse strandF8H2AB1: 154,884,972–154,885,558, forward strandH2AB1F8A1: 154,886,355–154,888,061, forward strandF8A1FUNDC2: 155,025,980–155,065,641, forward strandFUNDC2CMC4: 155,060,021–155,071,303, reverse strandCMC4: 155,061,622–155,065,519, reverse strandMTCP1: 155,064,034–155,147,937, reverse strandBRCC3: 155,071,416–155,128,969, forward strandBRCC3VBP1: 155,197,007–155,239,841, forward strandVBP1RAB39B: 155,258,235–155,264,531, reverse strandRAB39BDiagram of DKC1: 15 exons on the forward strand of chromosome XExon 1: 2 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 10: 3 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 1: 154,762,864–154,762,981, 118 basesExon 2: 154,764,899–154,764,966, 68 basesExon 3: 154,765,444–154,765,530, 87 basesExon 4: 154,765,907–154,765,998, 92 basesExon 5: 154,766,216–154,766,400, 185 basesExon 6: 154,766,997–154,767,061, 65 basesExon 7: 154,767,256–154,767,382, 127 basesExon 8: 154,768,302–154,768,432, 131 basesExon 9: 154,769,167–154,769,310, 144 basesExon 10: 154,770,759–154,770,879, 121 basesExon 11: 154,773,131–154,773,249, 119 basesExon 12: 154,774,602–154,774,705, 104 basesExon 13: 154,775,195–154,775,273, 79 basesExon 14: 154,776,187–154,776,324, 138 basesExon 15: 154,776,799–154,777,689, 891 bases1234567891011121314155′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 2.5 kb of the gene's 14.8 kb; 1,545 of those bases code for the protein.

How a genome test reads DKC1

23

positions in DKC1 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 14.8 kb of DKC1, introns included, not only the 2.5 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.). DKC1 gene: dyskerin pseudouridine synthase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/dkc1

Vancouver

Dante Labs. DKC1 gene: dyskerin pseudouridine synthase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dkc1

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