ENSMUSG00000069895


Mus musculus

Features
Gene ID: ENSMUSG00000069895
  
Biological name :Atxn1l
  
Synonyms : Ataxin-1-like / Atxn1l / P0C7T6
  
Possible biological names infered from orthology : P0C7T5
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: D3
Gene start: 109726451
Gene end: 109737739
  
Corresponding Affymetrix probe sets: 10581636 (MoGene1.0st)   1435921_at (Mouse Genome 430 2.0 Array)   1445624_at (Mouse Genome 430 2.0 Array)   1455507_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000090850
Ensembl peptide - ENSMUSP00000148324
Ensembl peptide - ENSMUSP00000148453
NCBI entrez gene - 52335     See in Manteia.
MGI - MGI:3694797
RefSeq - XM_017312897
RefSeq - NM_001080930
RefSeq - XM_011248439
RefSeq - XM_011248440
RefSeq - XM_011248441
RefSeq Peptide - NP_001074399
swissprot - P0C7T6
swissprot - A0A1D5RLP5
Ensembl - ENSMUSG00000069895
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atxn1lENSDARG00000086977Danio rerio
 ATXN1LENSGALG00000028253Gallus gallus
 ATXN1LENSG00000224470Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Atxn1 / P54254 / Ataxin-1 / P54253*ENSMUSG0000004687630


Protein motifs (from Interpro)
Interpro ID Name
 IPR003652  Ataxin, AXH domain
 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:0030198 extracellular matrix organization IMP
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0048286 lung alveolus development IMP
 biological_processGO:1902035 positive regulation of hematopoietic stem cell proliferation IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IPI


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: Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000440 domed skull 
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Allelic Composition: Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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

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

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

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

Allelic Composition: Atxn1ltm2.1Hzo/Atxn1l+
Genetic Background: B6.129S7-Atxn1ltm2.1Hzo

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pkd1tm1Gztn/Pkd1tm1Gztn,Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+
Genetic Background: involves: 129S/Sv * 129S7/SvEvBrd * C57BL/6

 MP:0002270 abnormal alveoli morphology "any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Atxn1tm1Hzo/Atxn1tm1Hzo,Atxn1ltm2.1Hzo/Atxn1l+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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]
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

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

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 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

Allelic Composition: 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"]
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: 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"]
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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"]
Show

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

Allelic Composition: 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:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

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

 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

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

  


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






 

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