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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
    gene page
  • Transcription Start Sites
    39 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:45703231-46118467 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 21.98 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    10266 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
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 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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATXN1, ataxin 1
  • Synonyms
    ATX1, D6S504E, SCA1
  • Links
    NCBI Gene ID: 6310
    neXtProt AC: NX_P54253
    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
    64 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
    59
  • GO References
    16
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
    892
  • Tissues
    74
  • cDNA Data
    22
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-28075, MGI:1925909, MGI:2145527
    References
    more
    • Summaries
      All 146
      Developmental Gene Expression 13
      Diseases 2
      Gene Ontology 16
      Phenotypes 64
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:347095 Homma H, et al., Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage. Commun Biol. 2024 Apr 9;7(1):413
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory