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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
  • Gene Overview
    MyGene.info: ATXN1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:45549755-45965008 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 21.98 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2324 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104783
protein coding gene Chr13:45549755-45965034 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020509
protein coding gene Chr13:44265791-44704580 (-)
A/J MGP_AJ_G0020463
protein coding gene Chr13:42724764-43150724 (-)
AKR/J MGP_AKRJ_G0020440
protein coding gene Chr13:43911953-44339700 (-)
BALB/cJ MGP_BALBcJ_G0020459
protein coding gene Chr13:42933228-43357363 (-)
C3H/HeJ MGP_C3HHeJ_G0020258
protein coding gene Chr13:43751227-44188591 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020892
protein coding gene Chr13:45611721-46067661 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018479
protein coding gene Chr13:40798010-41207424 (-)
CAST/EiJ MGP_CASTEiJ_G0019773
protein coding gene Chr13:43687704-44138724 (-)
CBA/J MGP_CBAJ_G0020219
protein coding gene Chr13:47508083-47986484 (-)
DBA/2J MGP_DBA2J_G0020341
protein coding gene Chr13:42294828-42717070 (-)
FVB/NJ MGP_FVBNJ_G0020320
protein coding gene Chr13:41813763-42237005 (-)
LP/J MGP_LPJ_G0020416
protein coding gene Chr13:44486191-44928831 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020349
protein coding gene Chr13:47365770-47829242 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020935
protein coding gene Chr13:43586074-44034114 (-)
PWK/PhJ MGP_PWKPhJ_G0019529
protein coding gene Chr13:42411055-42837476 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019357
protein coding gene Chr13:42256202-42689135 (-)
WSB/EiJ MGP_WSBEiJ_G0019835
protein coding gene Chr13:43901516-44345557 (-)



Homology
more
  • Human Ortholog
    ATXN1, ataxin 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ATXN1, ataxin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATX1, D6S504E, SCA1
  • Links
    NCBI Gene ID: 6310
    neXtProt AC: NX_P54253
    UniProt: P54253

  • Chr Location
    6p22.3; chr6:16299112-16761490 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 3 alleles in 5 genetic backgrounds
    27 phenotypes from multigenic genotypes
    68 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • 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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000046876 Ensembl Gene Model | MGI Sequence Detail 415254 C57BL/6J ±  kb
    transcript ENSMUST00000180110 Ensembl | MGI Sequence Detail 3901 Not Applicable  
    polypeptide ENSMUSP00000137439 Ensembl | MGI Sequence Detail 799 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • InterPro Domains
      IPR003652 Ataxin, AXH domain
      IPR036096 Ataxin, AXH domain superfamily
      IPR020997 Capicua transcriptional repressor modulator, Ataxin-1
    Molecular
    Reagents
    less
    • All nucleic 26
      Genomic 1
      cDNA 22
      Primer pair 1
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-28075, MGI:1925909, MGI:2145527
    References
    more
    • Summaries
      All 131
      Developmental Gene Expression 9
      Diseases 3
      Gene Ontology 14
      Phenotypes 68
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:266203 Kim JH, et al., Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner. Glia. 2018 Sep;66(9):1972-1987

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory