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Atxn1
Gene Detail
 Symbol
Name
ID
Atxn1
ataxin 1
MGI:104783
Synonyms 2900016G23Rik, Atx1, Sca1
Feature Type protein coding gene
Genetic Map
Chromosome 13
21.98 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr13:45549758-45964991 bp, - strand
From Ensembl annotation of GRCm38

  415234 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:281  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: ataxin-1/boat
Gene Tree: Atxn1

Human
homologs
Human Homolog ATXN1, ataxin 1
NCBI Gene ID 6310
neXtProt AC  NX_P54253
Human Synonyms  ATX1, D6S504E, SCA1
Human Chr (Location)  6p23; chr6:16299112-16761490 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ATXN1
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(3) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation.
 
Human Diseases Modeled Using Mouse Atxn1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Atxn1 interacts with 568 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process adult locomotory behavior, lung alveolus development, ...
Component cytoplasm, intracellular membrane-bounded organelle, ...
Function chromatin binding, DNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (175)    Tissues (69)    Images (14)
Theiler Stages: 2, 3, 4, 5, 17, 18, 21, 22, 23, 24, 26, 28
Assay TypeResults
RNA in situ 167
RT-PCR 8
cDNA source data(20)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) Genomic(1) cDNA(20) Primer pair(1) Other(2)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000046876 (Evidence)
Entrez Gene20238 (Evidence)
DFCITC1582797, TC1595155, TC1658718, TC1682033
DoTSDT.101292890, DT.110971142, DT.40133753, DT.521532, DT.55281041, DT.94231727, DT.94233179, DT.97356906
NIA Mouse Gene IndexU034733, U034734, U089995
Consensus CDS ProjectCCDS26483.1, CCDS56877.1
International Mouse Knockout Project StatusAtxn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000046876 Ensembl Gene Model | MGI Sequence Detail 415234 C57BL/6J ±  kb
transcript ENSMUST00000180110 Ensembl | MGI Sequence Detail 10605 Not Applicable 
polypeptide ENSMUSP00000137439 Ensembl | MGI Sequence Detail 799 Not Applicable 

For the selected sequences
All sequences(51) RefSeq(8) UniProt(3)
Polymorphisms RFLP(2) : SNPs within 2kb(2333 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013723 Ataxin-1/HBP1 module (AXH)
InterPro IPR003652 Ataxin, AXH domain
InterPro IPR020997 Capicua transcriptional repressor modulator, Ataxin-1
Protein Ontology PR:000002974 ataxin-1
References (Earliest) J:28932 Burright EN, et al., SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 1995 Sep 22;82(6):937-48
(Latest) J:210660 Venkatraman A, et al., The histone deacetylase HDAC3 is essential for Purkinje cell function, potentially complicating the use of HDAC inhibitors in SCA1. Hum Mol Genet. 2014 Jul 15;23(14):3733-45
All references(87)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-28075, MGI:1925909, MGI:2145527

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
09/09/2014
MGI 5.19
The Jackson Laboratory