ENSMUSG00000021189


Mus musculus

Features
Gene ID: ENSMUSG00000021189
  
Biological name :Atxn3
  
Synonyms : Ataxin-3 / Atxn3 / Q9CVD2
  
Possible biological names infered from orthology : ataxin 3 like / ATXN3L / Q9H3M9
  
Species: Mus musculus
  
Chr. number: 12
Strand: -1
Band: E
Gene start: 101918901
Gene end: 101958246
  
Corresponding Affymetrix probe sets: 10402249 (MoGene1.0st)   1434408_at (Mouse Genome 430 2.0 Array)   1440855_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000124419
Ensembl peptide - ENSMUSP00000125082
Ensembl peptide - ENSMUSP00000125378
Ensembl peptide - ENSMUSP00000124178
Ensembl peptide - ENSMUSP00000021606
NCBI entrez gene - 110616     See in Manteia.
MGI - MGI:1099442
RefSeq - NM_001167914
RefSeq - NM_029705
RefSeq Peptide - NP_001161386
RefSeq Peptide - NP_083981
swissprot - Q9CVD2
swissprot - E9Q717
swissprot - F6T5L3
swissprot - F6TRN1
swissprot - Q546X9
swissprot - Q5M8S1
Ensembl - ENSMUSG00000021189
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atxn3ENSDARG00000099274Danio rerio
 ATXN3ENSGALG00000010766Gallus gallus
 ATXN3LENSG00000123594Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003903  Ubiquitin interacting motif
 IPR006155  Josephin domain
 IPR009068  S15/NS1, RNA-binding
 IPR033865  Machado-Joseph disease protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000226 microtubule cytoskeleton organization ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0006515 protein quality control for misfolded or incompletely synthesized proteins IMP
 biological_processGO:0010810 regulation of cell-substrate adhesion ISS
 biological_processGO:0016579 protein deubiquitination IEA
 biological_processGO:0030036 actin cytoskeleton organization ISS
 biological_processGO:0034605 cellular response to heat IMP
 biological_processGO:0035520 monoubiquitinated protein deubiquitination IDA
 biological_processGO:0035640 exploration behavior IMP
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0045104 intermediate filament cytoskeleton organization ISS
 biological_processGO:0070536 protein K63-linked deubiquitination ISS
 biological_processGO:0070932 histone H3 deacetylation IEA
 biological_processGO:0071108 protein K48-linked deubiquitination ISS
 biological_processGO:0071218 cellular response to misfolded protein IMP
 biological_processGO:1904294 positive regulation of ERAD pathway ISO
 biological_processGO:1904379 protein localization to cytosolic proteasome complex involved in ERAD pathway ISO
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005730 nucleolus ISO
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005759 mitochondrial matrix IDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane ISO
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0031966 mitochondrial membrane IDA
 cellular_componentGO:0042405 nuclear inclusion body IDA
 molecular_functionGO:0001012 RNA polymerase II regulatory region DNA binding IEA
 molecular_functionGO:0004407 histone deacetylase activity IEA
 molecular_functionGO:0004843 thiol-dependent ubiquitin-specific protease activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA
 molecular_functionGO:0042802 identical protein binding ISS
 molecular_functionGO:0051117 ATPase binding ISS
 molecular_functionGO:0061578 Lys63-specific deubiquitinase activity ISS
 molecular_functionGO:1990380 Lys48-specific deubiquitinase activity ISS


Pathways (from Reactome)
Pathway description
Josephin domain DUBs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
Show

Allelic Composition: Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo/Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo,Tg(Slc6a3-icre)1Fto/0
Genetic Background: involves: 129 * C57BL/6J * FVB/N

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo/Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo,Tg(Slc6a3-icre)1Fto/0
Genetic Background: involves: 129 * C57BL/6J * FVB/N

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo/Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo,Tg(Slc6a3-icre)1Fto/0
Genetic Background: involves: 129 * C57BL/6J * FVB/N

 MP:0001417 decreased exploration in new environment "less amount of time spent investigating a new location" [J:79870]
Show

Allelic Composition: KitlSl-J/Kitl+
Genetic Background: involves: 129

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo/Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo,Tg(Slc6a3-icre)1Fto/0
Genetic Background: involves: 129 * C57BL/6J * FVB/N

 MP:0002590 increased mean corpuscular volume "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cdkn2atm1Rdp/Cdkn2atm1Rdp,Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor+,Ptentm1Rdp/Ptentm1Rdp,Tg(tetO-BRAF*V600E)29Lc/0,Tg(Tyr-cre/ERT2)13Bos/0
Genetic Background: involves: 129/Sv * C57BL/6J * FVB * SJL

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: KitlSl-J/Kitl+
Genetic Background: involves: 129

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo/Gt(ROSA)26Sortm1(LRRK2*R1441C)Djmo,Tg(Slc6a3-icre)1Fto/0
Genetic Background: involves: 129 * C57BL/6J * FVB/N

 MP:0004191 neuronal intranuclear inclusions "presence of aggregates of protein within the nuclei of neurons; frequently seen in Huntington s disease" [acv:Alicia Valenzuela_Genetic Resources Curator]
Show

Allelic Composition: Smpd3fro/Smpd3fro
Genetic Background: C3H.Cg-Smpd3fro

Allelic Composition: Atxn3tm1Hlp/Atxn3+
Genetic Background: involves: C57BL/6

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

 MP:0005343 increased circulating aspartate transaminase level "greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
Show

Allelic Composition: Cdkn2atm1Rdp/Cdkn2atm1Rdp,Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor+,Ptentm1Rdp/Ptentm1Rdp,Tg(tetO-BRAF*V600E)29Lc/0,Tg(Tyr-cre/ERT2)13Bos/0
Genetic Background: involves: 129/Sv * C57BL/6J * FVB * SJL

 MP:0011975 neuronal cytoplasmic inclusions "presence of aggregates of protein within the cytoplasm of neurons; hallmark of neurodegenerative disorders" [MGI:mnk]
Show

Allelic Composition: Atxn3tm1Hlp/Atxn3+
Genetic Background: involves: C57BL/6

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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