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Atn1
Gene Detail
 Symbol
Name
ID
Atn1
atrophin 1
MGI:104725
Synonyms Atr1, atrophin-1, Drpla
Feature Type protein coding gene
Genetic Map
Chromosome 6
59.17 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr6:124739189-124756524 bp, - strand
From VEGA annotation of GRCm38

  17336 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1461  Vertebrate Homology Class
1 human; 1 mouse; 2 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Atn1

Human
homologs
Human Homolog ATN1, atrophin 1
NCBI Gene ID 1822
neXtProt AC  NX_P54259
Human Synonyms  B37, D12S755E, DRPLA, HRS, NOD
Human Chr (Location)  12p13.31; chr12:6924463-6942321 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ATN1
Mutations,
alleles, and
phenotypes
All mutations/alleles(27) : Gene trapped(20) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Atn1 interacts with 112 markers (Mir1b, Mir15a, Mir15b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process cell migration, maintenance of cell polarity, ...
Component cell junction, cell leading edge, ...
Function JUN kinase binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (12)    Tissues (12)   
Theiler Stages: 10, 18, 23, 25, 28
Assay TypeResults
Northern blot 12
cDNA source data(89)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(91) Genomic(1) cDNA(89) Other(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000023122 (Evidence)
Ensembl Gene ModelENSMUSG00000004263 (Evidence)
Entrez Gene13498 (Evidence)
UniGene333380
DFCITC1581520, TC1583047
DoTSDT.101725447, DT.535295, DT.99859246
Consensus CDS ProjectCCDS20526.1
International Mouse Knockout Project StatusAtn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023122 VEGA Gene Model | MGI Sequence Detail 17336 C57BL/6J ±  kb
transcript OTTMUST00000055873 VEGA | MGI Sequence Detail 4359 Not Applicable 
polypeptide OTTMUSP00000026803 VEGA | MGI Sequence Detail 1175 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(2) UniProt(2)
Polymorphisms SNPs within 2kb(30 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017993 Atrophin-1
InterPro IPR002951 Atrophin-like
Protein Ontology PR:000004429 atrophin-1
References (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:184005 Saburi S, et al., Functional interactions between Fat family cadherins in tissue morphogenesis and planar polarity. Development. 2012 May;139(10):1806-20
All references(44)
Other
accession IDs
MGD-MRK-27088

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
08/12/2014
MGI 5.19
The Jackson Laboratory