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Gene

ATN1

atrophin 1

Summary

Cytogenetic location
12p13.31
Coordinates
Chromosome 12: 6,927,959–6,942,321 (GRCh38)
Exons
10 exons across 14.4 kb
Protein
1,190 amino acids
Inheritance
Autosomal dominant
Also known as
B37
Previous symbols
D12S755E, DRPLA
MANE Select transcript
ENST00000396684.3NM_001940.4
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 report relevant to this gene

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

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

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

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 ATN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where ATN1 sits. ATN1 and 44 genes near it on chromosome 12, from 6,435,140 to 7,435,139.Chromosome 1212p13.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.336.6 Mb6.8 Mb7 Mb7.2 Mb7.4 MbCD27: 6,444,933–6,451,718, forward strandCD27TAPBPL: 6,451,690–6,466,517, forward strandTAPBPLVAMP1: 6,462,237–6,470,948, reverse strandVAMP1MRPL51: 6,490,204–6,493,856, reverse strandMRPL51NCAPD2: 6,493,356–6,531,970, forward strandNCAPD2GAPDH: 6,534,012–6,538,930, forward strandGAPDHIFFO1: 6,538,961–6,556,102, reverse strandIFFO1NOP2: 6,556,863–6,568,691, reverse strandNOP2: 6,556,886–6,607,367, reverse strandCHD4: 6,570,081–6,614,982, reverse strandCHD4LPAR5: 6,618,835–6,636,444, reverse strandLPAR5ACRBP: 6,638,075–6,647,441, reverse strandACRBPING4: 6,650,282–6,663,180, reverse strandING4ZNF384: 6,665,037–6,689,572, reverse strandZNF384PIANP: 6,693,791–6,700,859, reverse strandPIANPCOPS7A: 6,724,014–6,732,462, forward strandCOPS7AMLF2: 6,747,986–6,768,932, reverse strandMLF2PTMS: 6,765,516–6,770,952, forward strandPTMSLAG3: 6,772,360–6,778,455, forward strandLAG3CD4: 6,786,858–6,820,807, forward strandCD4GPR162: 6,821,624–6,829,972, forward strandP3H3: 6,828,220–6,839,867, forward strandGNB3: 6,839,954–6,847,393, forward strandCDCA3: 6,844,723–6,852,353, reverse strandUSP5: 6,852,098–6,866,632, forward strandUSP5TPI1: 6,867,119–6,878,513, forward strandTPI1SPSB2: 6,870,934–6,889,358, reverse strandSPSB2LRRC23: 6,873,455–6,914,243, forward strandENO2: 6,913,745–6,923,970, forward strandENO2ATN1: 6,927,959–6,942,321, forward strandATN1C12orf57: 6,942,919–6,946,009, forward strandC12orf57RNU7-1: 6,943,816–6,943,878, forward strandRNU7-1PTPN6: 6,946,417–6,961,316, forward strandPHB2: 6,965,327–6,970,841, reverse strandEMG1: 6,970,765–6,979,939, forward strand: 6,970,921–6,997,428, forward strandLPCAT3: 6,972,027–7,018,779, reverse strandC1S: 6,988,259–7,071,281, forward strandC1R: 7,080,213–7,092,873, reverse strandC1RC1RL: 7,089,587–7,109,245, reverse strandC1RLRBP5: 7,115,736–7,128,891, reverse strandRBP5CLSTN3: 7,128,077–7,158,945, forward strandCLSTN3PEX5: 7,188,653–7,218,574, forward strandPEX5ACSM4: 7,304,072–7,328,719, forward strandACSM4CD163L1: 7,346,685–7,479,897, reverse strandCD163L1Diagram of ATN1: 10 exons on the forward strand of chromosome 12Exon 7: 3 known disease-causing sitesExon 1: 6,927,959–6,928,384, 426 basesExon 2: 6,933,840–6,934,028, 189 basesExon 3: 6,934,176–6,934,313, 138 basesExon 4: 6,934,465–6,934,578, 114 basesExon 5: 6,935,547–6,937,561, 2,015 basesExon 6: 6,937,845–6,938,067, 223 basesExon 7: 6,938,481–6,939,177, 697 basesExon 8: 6,940,880–6,941,023, 144 basesExon 9: 6,941,374–6,941,554, 181 basesExon 10: 6,941,747–6,942,321, 575 bases123456789105′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 4.7 kb of the gene's 14.4 kb; 3,573 of those bases code for the protein.

How a genome test reads ATN1

3

positions in ATN1 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 14.4 kb of ATN1, introns included, not only the 4.7 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.). ATN1 gene: atrophin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/atn1

Vancouver

Dante Labs. ATN1 gene: atrophin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/atn1

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