ENSMUSG00000021738


Mus musculus

Features
Gene ID: ENSMUSG00000021738
  
Biological name :Atxn7
  
Synonyms : Ataxin-7 / Atxn7 / Q8R4I1
  
Possible biological names infered from orthology : O15265
  
Species: Mus musculus
  
Chr. number: 14
Strand: 1
Band: A1
Gene start: 13961440
Gene end: 14107302
  
Corresponding Affymetrix probe sets: 10412741 (MoGene1.0st)   1426287_at (Mouse Genome 430 2.0 Array)   1436175_at (Mouse Genome 430 2.0 Array)   1442186_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000153048
Ensembl peptide - ENSMUSP00000153613
Ensembl peptide - ENSMUSP00000022257
Ensembl peptide - ENSMUSP00000152934
NCBI entrez gene - 246103     See in Manteia.
MGI - MGI:2179277
RefSeq - XM_006518015
RefSeq - XM_006518017
RefSeq - XM_006518018
RefSeq - NM_139227
RefSeq Peptide - NP_631973
swissprot - Q8R4I1
swissprot - A0A286YCL5
swissprot - A0A286YDW9
Ensembl - ENSMUSG00000021738
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atxn7ENSDARG00000074804Danio rerio
 ENSGALG00000007302Gallus gallus
 ATXN7ENSG00000163635Homo sapiens
 ATXN7ENSG00000285258Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9CZ05 / Atxn7l1 / Ataxin-7-like protein 1 / Q9ULK2* / ataxin 7 like 1*ENSMUSG0000002056427
Atxn7l2 / ataxin 7-like 2 / Q5T6C5*ENSMUSG0000004899721


Protein motifs (from Interpro)
Interpro ID Name
 IPR013243  SCA7 domain
 IPR030706  Ataxin-7


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000226 microtubule cytoskeleton organization ISO
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0016578 histone deubiquitination ISO
 biological_processGO:0042326 negative regulation of phosphorylation IMP
 biological_processGO:0043569 negative regulation of insulin-like growth factor receptor signaling pathway IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0015630 microtubule cytoskeleton ISO
 cellular_componentGO:0016363 nuclear matrix IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Ub-specific processing proteases


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]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000243 myoclonus "involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000864 abnormal vermis "malformation in the narrow middle zone between the two hemispheres of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 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]
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Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 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: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 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: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0001005 abnormal rod morphology "structural or developmental anomaly of the photoreceptors that contain rhodopsin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001344 blepharoptosis "ptosis, drooping eyelids " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:24414]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 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]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 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: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7+,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 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: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 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: Btktm1Wk/Btktm1Wk
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7+,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7+,Kat2atm3Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0002922 decreased post-tetanic potential "reduction in the size or duration of potentials that persist after tetanic stimulation of central synapses" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0008513 thin retinal inner plexiform layer "reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0008580 photoreceptor inner segment degeneration "retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0008584 photoreceptor outer segment degeneration "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo,Kat2atm3.1Roth/Kat2a+
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atxn7tm1Hzo/Atxn7+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Atxn7tm1Hzo/Atxn7tm1Hzo
Genetic Background: involves: 129S7/SvEvBrd

  


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






 

0 s.

 
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