ENSMUSG00000046876


Mus musculus

Features
Gene ID: ENSMUSG00000046876
  
Biological name :Atxn1
  
Synonyms : Ataxin-1 / Atxn1 / P54254
  
Possible biological names infered from orthology : P54253
  
Species: Mus musculus
  
Chr. number: 13
Strand: -1
Band: A5
Gene start: 45549755
Gene end: 45965008
  
Corresponding Affymetrix probe sets: 10408935 (MoGene1.0st)   10408937 (MoGene1.0st)   1434451_at (Mouse Genome 430 2.0 Array)   1438294_at (Mouse Genome 430 2.0 Array)   1450499_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000089217
Ensembl peptide - ENSMUSP00000129890
Ensembl peptide - ENSMUSP00000137439
NCBI entrez gene - 20238     See in Manteia.
MGI - MGI:104783
RefSeq - XM_017315463
RefSeq - NM_001199304
RefSeq - NM_001199305
RefSeq - NM_009124
RefSeq - XM_011244390
RefSeq - XM_011244391
RefSeq - XM_011244392
RefSeq - XM_011244393
RefSeq - XM_017315462
RefSeq - XM_011244381
RefSeq - XM_011244383
RefSeq - XM_011244385
RefSeq - XM_011244386
RefSeq - XM_011244387
RefSeq - XM_011244388
RefSeq - XM_011244389
RefSeq Peptide - NP_001186233
RefSeq Peptide - NP_001186234
RefSeq Peptide - NP_033150
swissprot - P54254
swissprot - J3QPR1
Ensembl - ENSMUSG00000046876
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atxn1aENSDARG00000061687Danio rerio
 atxn1bENSDARG00000060862Danio rerio
 ATXN1ENSGALG00000012709Gallus gallus
 ATXN1ENSG00000124788Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Atxn1l / P0C7T6 / Ataxin-1-like / P0C7T5*ENSMUSG0000006989526


Protein motifs (from Interpro)
Interpro ID Name
 IPR003652  Ataxin, AXH domain
 IPR020997  Capicua transcriptional repressor modulator, Ataxin-1
 IPR036096  Ataxin, AXH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IGI
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007420 brain development IMP
 biological_processGO:0007612 learning IMP
 biological_processGO:0007613 memory IMP
 biological_processGO:0008344 adult locomotory behavior IMP
 biological_processGO:0008542 visual learning IMP
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0042326 negative regulation of phosphorylation IMP
 biological_processGO:0043569 negative regulation of insulin-like growth factor receptor signaling pathway IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0048286 lung alveolus development IGI
 biological_processGO:0051168 nuclear export IEA
 biological_processGO:0060079 excitatory postsynaptic potential IMP
 biological_processGO:0060252 positive regulation of glial cell proliferation IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016363 nuclear matrix IEA
 cellular_componentGO:0042272 nuclear RNA export factor complex IEA
 cellular_componentGO:0042405 nuclear inclusion body IEA
 cellular_componentGO:0098794 postsynapse IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0008266 poly(U) RNA binding IEA
 molecular_functionGO:0034046 poly(G) binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0043621 protein self-association IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0000749 muscle degeneration "pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Atxn1tm1Hzo/Atxn1+
Genetic Background: B6.129S7-Atxn1tm1Hzo

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Atxn1tm1Hzo/Atxn1+
Genetic Background: B6.129S7-Atxn1tm1Hzo

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Atxn1tm2Hzo/Atxn1tm2Hzo,Tg(Pcp2-ATXN1*82Q)5Horr/0
Genetic Background: involves: 129S7/SvEvBrd * FVB/N

Allelic Composition: Atxn1tm1Hzo/Atxn1+
Genetic Background: B6.129S7-Atxn1tm1Hzo

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Atxn1tm1Hzo/Atxn1+
Genetic Background: B6.129S7-Atxn1tm1Hzo

 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]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Atxn1tm2Zuk/Atxn1tm2Zuk
Genetic Background: either: (involves: 129S/SvEv) or (involves: 129S7/SvEvBrd * C57BL/6)

Allelic Composition: Atxn1tm2Hzo/Atxn1tm2Hzo
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Atxn1tm2Hzo/Atxn1tm2Hzo
Genetic Background: 129S/SvEv-Atxn1tm2Hzo

Allelic Composition: Atxn1tm1Hzo/Atxn1+
Genetic Background: B6.129S7-Atxn1tm1Hzo

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0001417 decreased exploration in new environment "less amount of time spent investigating a new location" [J:79870]
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Allelic Composition: Atxn1tm2Hzo/Atxn1tm2Hzo
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Atxn1tm2Hzo/Atxn1tm2Hzo
Genetic Background: 129S/SvEv-Atxn1tm2Hzo

 MP:0001454 abnormal cued conditioning behavior "defect in the ability of an animal to learn and remember an association between an an aversive experience (the unconditioned stimulus (US), ususally a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light)" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0001473 reduced long term potentiation "less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science:ISBN 0-8385-8034-3]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
Show

Allelic Composition: Cop1Gt(XR0653)Wtsi/Cop1Gt(XR0653)Wtsi
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Atxn1tm1Hzo/Atxn1tm1Hzo,Atxn1ltm2.1Hzo/Atxn1l+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002062 abnormal conditioning behavior "inability to change the frequency or form of a behavior as a result of the influence of the environment " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm1.1Hzo/Atxn1l+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm1.1Hzo/Atxn1l+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Atxn1tm1Hzo/Atxn1+
Genetic Background: B6.129S7-Atxn1tm1Hzo

Allelic Composition: Atxn1tm1Hzo/Atxn1+,CicGt(XE565)Byg/Cic+
Genetic Background: B6.129-CicGt(XE565)Byg Atxn1tm1Hzo

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0002912 abnormal excitatory postsynaptic potential "defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0002920 reduced paired-pulse facilitation "decrease in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Atxn1tm2Hzo/Atxn1tm2Hzo
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Atxn1tm2Hzo/Atxn1tm2Hzo
Genetic Background: 129S/SvEv-Atxn1tm2Hzo

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Cop1Gt(XR0653)Wtsi/Cop1Gt(XR0653)Wtsi
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Atxn1tm1Hzo/Atxn1tm1Hzo,Atxn1ltm2.1Hzo/Atxn1l+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003224 neuron degeneration "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm1.1Hzo/Atxn1l+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Atxn1tm2Hzo/Atxn1tm2Hzo,Tg(Pcp2-ATXN1*82Q)5Horr/0
Genetic Background: involves: 129S7/SvEvBrd * FVB/N

Allelic Composition: Atxn1tm1Hzo/Atxn1+
Genetic Background: B6.129S7-Atxn1tm1Hzo

Allelic Composition: Atxn1tm1Hzo/Atxn1+,CicGt(XE565)Byg/Cic+
Genetic Background: B6.129-CicGt(XE565)Byg Atxn1tm1Hzo

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0008428 abnormal spatial working memory "anomaly in the ability to spontaneously process spatial location information in order to naviagate or perform other behavior using such locational cues, without previous encounters or training at that location" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atxn1tm2Hzo/Atxn1tm2Hzo
Genetic Background: 129S/SvEv-Atxn1tm2Hzo

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cop1Gt(XR0653)Wtsi/Cop1Gt(XR0653)Wtsi
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0008536 enlarged third ventricle "increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [MESH:A08.186.211.276.840, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cop1Gt(XR0653)Wtsi/Cop1Gt(XR0653)Wtsi
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm1.1Hzo/Atxn1l+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010902 abnormal pulmonary alveolar sac morphology "any structural anomaly of the small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Cop1Gt(XR0653)Wtsi/Cop1Gt(XR0653)Wtsi
Genetic Background: involves: 129P2/OlaHsd

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Cop1Gt(XR0653)Wtsi/Cop1Gt(XR0653)Wtsi
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Atxn1tm1Hzo/Atxn1+,Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Atxn1tm1Hzo/Atxn1tm1Hzo,Atxn1ltm2.1Hzo/Atxn1l+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0012676 dilated brain ventricles "the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid" [MGI:anna]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp
Genetic Background: involves: 129S6/SvEvTac * FVB/N

  


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






 

0 s.

 
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