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Atxn1 Gene Detail
Summary
  • Symbol
    Atxn1
  • Name
    ataxin 1
  • Synonyms
    2900016G23Rik, Atx1, Sca1
  • Feature Type
    protein coding gene
  • IDs
    MGI:104783
    NCBI Gene: 20238
  • Alliance
  • Transcription Start Sites
    38 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:45703231-46118467 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 13, 21.98 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    10266 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104783
protein coding gene Chr13:45703231-46118484 (-)
129S1/SvImJ ENSMUSG00200034631
protein coding gene Chr13:42949458-43364988 (-)
A/J ENSMUSG00195028650
protein coding gene Chr13:42008811-42425103 (-)
AKR/J ENSMUSG00220008453
protein coding gene Chr13:41821728-42237254 (-)
BALB/cJ ENSMUSG00180008382
protein coding gene Chr13:42315337-42731583 (-)
C3H/HeJ ENSMUSG00175026277
protein coding gene Chr13:42279623-42695880 (-)
C57BL/6NJ ENSMUSG00215004855
protein coding gene Chr13:42447031-42862415 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018479
protein coding gene Chr13:40798010-41207424 (-)
CAST/EiJ ENSTCUG00005029177
protein coding gene Chr13:42355200-42771323 (-)
CBA/J ENSMUSG00210026440
protein coding gene Chr13:42285147-42701345 (-)
DBA/2J ENSMUSG00185030823
protein coding gene Chr13:43105116-43521425 (-)
FVB/NJ ENSMUSG00205011278
protein coding gene Chr13:42060556-42476804 (-)
JF1/MsJ ENSUMUG00000009519
protein coding gene Chr13:42646751-43056244 (-)
LP/J ENSMUSG00230027811
protein coding gene Chr13:52417435-52833624 (-)
NOD/ShiLtJ ENSMUSG00190011839
protein coding gene Chr13:42503902-42920090 (-)
NZO/HlLtJ ENSMUSG00225035910
protein coding gene Chr13:46187527-46603718 (-)
PWK/PhJ ENSLUMG00010020920
protein coding gene Chr13:41472559-41887952 (-)
SPRET/EiJ ENSMSPG00010028830
protein coding gene Chr13:41568462-41751079 (-)
WSB/EiJ ENSIUOG00005025107
protein coding gene Chr13:41634656-42083602 (-)



Homology
more
  • Human Ortholog
    ATXN1, ataxin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATXN1, ataxin 1
  • Synonyms
    ATX1, D6S504E, SCA1
  • Links
    NCBI Gene ID: 6310
    UniProt: P54253

  • Chr Location
    6p22.3; chr6:16299112-16761491 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Atxn1 mouse models; 1 with human ATXN1 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 3 alleles in 5 genetic backgrounds
    21 phenotypes from multigenic genotypes
    78 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20238 NCBI Gene Model | MGI Sequence Detail 415237 C57BL/6J ±  kb
    transcript NM_001199305 RefSeq | MGI Sequence Detail 10623 ZRU/MplStud  
    polypeptide P54254 UniProt | EBI | MGI Sequence Detail 791 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 1
      cDNA 22
      Primer pair 1
      Other 4
      Antibodies 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-28075, MGI:1925909, MGI:2145527
    References
    more
    • Summaries
      All 217
      Developmental Gene Expression 13
      Diseases 2
      Gene Ontology 19
      Phenotypes 78
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:390228 Kuo CJ, et al., PGC-1alpha pathway dysregulation disrupts myofiber specification in a mouse model of SBMA. JCI Insight. 2026 Jul 22;11(14):e203215

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    09/08/2026
    MGI 6.24
    The Jackson Laboratory