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Gene

ELP1

elongator acetyltransferase complex subunit 1

Summary

Cytogenetic location
9q31.3
Coordinates
Chromosome 9: 108,867,517–108,934,124 (GRCh38)
Exons
37 exons across 66.6 kb
Protein
1,332 amino acids
Inheritance
Autosomal dominant
Also known as
IKAP, TOT1, IKI3
Previous symbols
DYS, IKBKAP
MANE Select transcript
ENST00000374647.10NM_003640.5
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 reports relevant to this gene

  • Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)

    • Hereditary Sensory and Autonomic Neuropathy

      A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.

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

      Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).

  • Medulloblastoma

    • Autosomal dominant
      • 2 GenCC submitters rate it definitive or strong

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.

How ELP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where ELP1 sits. ELP1 and 8 genes near it on chromosome 9, from 108,400,821 to 109,400,820.Chromosome 99q31.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3108.6 Mb108.8 Mb109 Mb109.2 Mb109.4 MbACTL7B: 108,854,588–108,855,986, reverse strandACTL7BACTL7A: 108,862,266–108,863,756, forward strandACTL7AELP1: 108,867,517–108,934,124, reverse strandELP1ABITRAM: 108,934,130–108,950,941, forward strandABITRAMCTNNAL1: 108,942,569–109,013,645, reverse strandCTNNAL1TMEM245: 109,015,135–109,119,975, reverse strandTMEM245FRRS1L: 109,130,293–109,167,249, reverse strandFRRS1LEPB41L4B: 109,171,463–109,321,068, reverse strandEPB41L4BPTPN3: 109,375,464–109,498,343, reverse strandPTPN3Diagram of ELP1: 37 exons on the reverse strand of chromosome 9Exon 37: 1 known disease-causing siteExon 35: 10 known disease-causing sitesExon 34: 13 known disease-causing sitesExon 33: 8 known disease-causing sitesExon 32: 9 known disease-causing sitesExon 31: 6 known disease-causing sitesExon 30: 2 known disease-causing sitesExon 29: 3 known disease-causing sitesExon 28: 7 known disease-causing sitesExon 27: 8 known disease-causing sitesExon 26: 10 known disease-causing sitesExon 25: 11 known disease-causing sitesExon 24: 5 known disease-causing sitesExon 23: 7 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 20: 4 known disease-causing sitesExon 19: 10 known disease-causing sitesExon 18: 9 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 15: 5 known disease-causing sitesExon 14: 10 known disease-causing sitesExon 13: 4 known disease-causing sitesExon 12: 14 known disease-causing sitesExon 11: 23 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 13 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 37: 108,867,517–108,869,182, 1,666 basesExon 36: 108,874,895–108,874,970, 76 basesExon 35: 108,877,995–108,878,149, 155 basesExon 34: 108,878,623–108,878,750, 128 basesExon 33: 108,879,446–108,879,557, 112 basesExon 32: 108,880,052–108,880,165, 114 basesExon 31: 108,881,705–108,881,765, 61 basesExon 30: 108,882,125–108,882,187, 63 basesExon 29: 108,889,332–108,889,393, 62 basesExon 28: 108,891,203–108,891,404, 202 basesExon 27: 108,892,986–108,893,083, 98 basesExon 26: 108,893,943–108,894,066, 124 basesExon 25: 108,896,496–108,896,644, 149 basesExon 24: 108,896,953–108,897,038, 86 basesExon 23: 108,897,148–108,897,285, 138 basesExon 22: 108,898,502–108,898,581, 80 basesExon 21: 108,898,671–108,898,749, 79 basesExon 20: 108,899,822–108,899,895, 74 basesExon 19: 108,900,260–108,900,375, 116 basesExon 18: 108,901,425–108,901,530, 106 basesExon 17: 108,901,628–108,901,681, 54 basesExon 16: 108,902,839–108,902,942, 104 basesExon 15: 108,903,563–108,903,669, 107 basesExon 14: 108,906,303–108,906,485, 183 basesExon 13: 108,908,305–108,908,404, 100 basesExon 12: 108,911,010–108,911,180, 171 basesExon 11: 108,912,264–108,912,494, 231 basesExon 10: 108,916,204–108,916,297, 94 basesExon 9: 108,917,547–108,917,670, 124 basesExon 8: 108,918,811–108,918,901, 91 basesExon 7: 108,919,253–108,919,349, 97 basesExon 6: 108,922,842–108,922,927, 86 basesExon 5: 108,926,523–108,926,603, 81 basesExon 4: 108,927,372–108,927,453, 82 basesExon 3: 108,929,769–108,929,921, 153 basesExon 2: 108,930,997–108,931,201, 205 basesExon 1: 108,933,864–108,934,124, 261 bases37353025201510515′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 5.9 kb of the gene's 66.6 kb; 3,999 of those bases code for the protein.

How a genome test reads ELP1

332

positions in ELP1 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 66.6 kb of ELP1, introns included, not only the 5.9 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.). ELP1 gene: elongator acetyltransferase complex subunit 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/elp1

Vancouver

Dante Labs. ELP1 gene: elongator acetyltransferase complex subunit 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/elp1

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