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Atn1 Gene Detail
Summary
  • Symbol
    Atn1
  • Name
    atrophin 1
  • Synonyms
    Atr1, atrophin-1, Drpla
  • Feature Type
    protein coding gene
  • IDs
    MGI:104725
    NCBI Gene: 13498
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:124719507-124733450 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 59.17 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    281 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104725
 protein coding gene Chr6:124719507-124733487 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031265
 protein coding gene Chr6:128047174-128060684 (-)
A/J MGP_AJ_G0031235
 protein coding gene Chr6:123233583-123247491 (-)
AKR/J MGP_AKRJ_G0031163
 protein coding gene Chr6:126592159-126606067 (-)
BALB/cJ MGP_BALBcJ_G0031243
 protein coding gene Chr6:122833441-122847210 (-)
C3H/HeJ MGP_C3HHeJ_G0030966
 protein coding gene Chr6:126643170-126656963 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031699
 protein coding gene Chr6:131436195-131449705 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028849
 protein coding gene Chr6:120420447-120427676 (-)
CAST/EiJ MGP_CASTEiJ_G0030347
 protein coding gene Chr6:126845395-126859269 (-)
CBA/J MGP_CBAJ_G0030927
 protein coding gene Chr6:136465592-136479385 (-)
DBA/2J MGP_DBA2J_G0031083
 protein coding gene Chr6:122159183-122172926 (-)
FVB/NJ MGP_FVBNJ_G0031033
 protein coding gene Chr6:121063159-121076669 (-)
LP/J MGP_LPJ_G0031163
 protein coding gene Chr6:128221170-128234680 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031071
 protein coding gene Chr6:140517630-140531140 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031734
 protein coding gene Chr6:126483829-126497661 (-)
PWK/PhJ MGP_PWKPhJ_G0030062
 protein coding gene Chr6:120387183-120401370 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029891
 protein coding gene Chr6:124559972-124575064 (-)
WSB/EiJ MGP_WSBEiJ_G0030432
 protein coding gene Chr6:126843339-126858804 (-)



Homology
more
  • Human Ortholog
    ATN1, atrophin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATN1, atrophin 1
  • Synonyms
    B37, CHEDDA, D12S755E, DRPLA, HRS, NOD
  • Links
    NCBI Gene ID: 1822
    neXtProt AC: NX_P54259
    UniProt: P54259

  • Chr Location
    12p13.31; chr12:6924459-6942321 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human ATN1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 3 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    12 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.
Homozygous null mice are viable and fertile, however mice expressing a truncated protein lacking the poly-Q repeat and C-terminal peptides display growth retardation, progressive male infertility with small testis and low sperm counts, and consume less food.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    11
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
    788
  • Tissues
    52
  • cDNA Data
    90
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13498 NCBI Gene Model | MGI Sequence Detail 13944 C57BL/6J ±  kb
    transcript NM_007881 RefSeq | MGI Sequence Detail 4426 Not Specified  
    polypeptide O35126 UniProt | EBI | MGI Sequence Detail 1175 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 93
      Genomic 1
      cDNA 90
      Primer pair 1
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-27088
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 7
      Gene Ontology 11
      Phenotypes 12
    • Earliest
      J:29398 Onodera O, et al., Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. Am J Hum Genet. 1995 Nov;57(5):1050-60
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory