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Gene

ATXN1

ataxin 1

Summary

Cytogenetic location
6p22.3
Coordinates
Chromosome 6: 16,299,112–16,761,460 (GRCh38)
Exons
8 exons across 462.3 kb
Protein
815 amino acids
Inheritance
Autosomal dominant
Also known as
D6S504E, ATX1
Previous symbols
SCA1
MANE Select transcript
ENST00000436367.6NM_001128164.2
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 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.

      • 1 GenCC submitter rates 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 ATXN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 6, with a bracket where ATXN1 sits. ATXN1 and 4 genes near it on chromosome 6, from 15,836,763 to 17,223,809.Chromosome 66p22.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2716 Mb16.2 Mb16.4 Mb16.6 Mb16.8 Mb17 Mb17.2 MbMYLIP: 16,129,063–16,151,367, forward strandMYLIPGMPR: 16,238,474–16,295,923, forward strandGMPRATXN1: 16,299,112–16,761,460, reverse strandATXN1: 16,328,342–16,328,431, reverse strandSTMND1: 17,102,046–17,131,378, forward strandSTMND1Diagram of ATXN1: 8 exons on the reverse strand of chromosome 6Exon 8: 16,299,112–16,306,859, 7,748 basesExon 7: 16,326,394–16,328,470, 2,077 basesExon 6: 16,485,972–16,486,109, 138 basesExon 5: 16,522,627–16,522,688, 62 basesExon 4: 16,585,780–16,585,907, 128 basesExon 3: 16,657,776–16,657,901, 126 basesExon 2: 16,753,233–16,753,347, 115 basesExon 1: 16,761,298–16,761,460, 163 bases876543215′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 10.6 kb of the gene's 462.3 kb; 2,448 of those bases code for the protein.

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.
  • 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.). ATXN1 gene: ataxin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/atxn1

Vancouver

Dante Labs. ATXN1 gene: ataxin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/atxn1

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