ENSMUSG00000031229


Mus musculus

Features
Gene ID: ENSMUSG00000031229
  
Biological name :Atrx
  
Synonyms : Atrx / Q61687 / Transcriptional regulator ATRX
  
Possible biological names infered from orthology : ATRX, chromatin remodeler / P46100
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: D
Gene start: 105797615
Gene end: 105929403
  
Corresponding Affymetrix probe sets: 10606263 (MoGene1.0st)   1420945_at (Mouse Genome 430 2.0 Array)   1420946_at (Mouse Genome 430 2.0 Array)   1420947_at (Mouse Genome 430 2.0 Array)   1420948_s_at (Mouse Genome 430 2.0 Array)   1433537_at (Mouse Genome 430 2.0 Array)   1438750_at (Mouse Genome 430 2.0 Array)   1441771_at (Mouse Genome 430 2.0 Array)   1450051_at (Mouse Genome 430 2.0 Array)   1453734_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000121416
Ensembl peptide - ENSMUSP00000121291
Ensembl peptide - ENSMUSP00000122034
Ensembl peptide - ENSMUSP00000143664
Ensembl peptide - ENSMUSP00000143565
Ensembl peptide - ENSMUSP00000143280
Ensembl peptide - ENSMUSP00000143163
Ensembl peptide - ENSMUSP00000143090
Ensembl peptide - ENSMUSP00000143015
Ensembl peptide - ENSMUSP00000143007
Ensembl peptide - ENSMUSP00000142726
Ensembl peptide - ENSMUSP00000123085
Ensembl peptide - ENSMUSP00000122875
Ensembl peptide - ENSMUSP00000098863
Ensembl peptide - ENSMUSP00000109203
Ensembl peptide - ENSMUSP00000117528
Ensembl peptide - ENSMUSP00000120246
NCBI entrez gene - 22589     See in Manteia.
MGI - MGI:103067
RefSeq - XM_011247575
RefSeq - NM_009530
RefSeq - XM_006527948
RefSeq - XM_011247560
RefSeq - XM_011247561
RefSeq - XM_011247562
RefSeq - XM_011247563
RefSeq - XM_011247564
RefSeq - XM_011247565
RefSeq - XM_011247566
RefSeq - XM_011247567
RefSeq - XM_011247568
RefSeq - XM_011247569
RefSeq - XM_011247570
RefSeq - XM_011247571
RefSeq - XM_011247572
RefSeq - XM_011247573
RefSeq - XM_011247574
RefSeq Peptide - NP_033556
swissprot - A6PWL2
swissprot - A6PWK9
swissprot - A6PWK8
swissprot - A6PWK7
swissprot - A0A0G2JGR1
swissprot - A0A0G2JGH3
swissprot - A0A0G2JFR8
swissprot - A0A0G2JFG6
swissprot - A0A0G2JFA5
swissprot - A0A0G2JF42
swissprot - F6RDB7
swissprot - A0A0G2JF35
swissprot - A0A0G2JED2
swissprot - Q3TA30
swissprot - Q3UY26
swissprot - Q8C2S3
swissprot - Q61687
Ensembl - ENSMUSG00000031229
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atrxENSDARG00000042236Danio rerio
 ATRXENSGALG00000007843Gallus gallus
 ATRXENSG00000085224Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rad54l2 / RAD54 like 2 (S. cerevisiae) / Q9Y4B4* / RAD54 like 2*ENSMUSG0000004066115
Q6PFE3 / Rad54b / DNA repair and recombination protein RAD54B / FSBP* / O95073* / Q9Y620* / RAD54 homolog B (S. cerevisiae)* / fibrinogen silencer binding protein*ENSMUSG000000787739
P70270 / Rad54l / DNA repair and recombination protein RAD54-like / Q92698* / RAD54 like*ENSMUSG000000287029


Protein motifs (from Interpro)
Interpro ID Name
 IPR000330  SNF2-related, N-terminal domain
 IPR001650  Helicase, C-terminal
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR025766  ADD domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000212 meiotic spindle organization IMP
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006334 nucleosome assembly IEA
 biological_processGO:0006336 DNA replication-independent nucleosome assembly IEA
 biological_processGO:0006338 chromatin remodeling IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007283 spermatogenesis IMP
 biological_processGO:0010571 positive regulation of nuclear cell cycle DNA replication IMP
 biological_processGO:0030330 DNA damage response, signal transduction by p53 class mediator IMP
 biological_processGO:0030900 forebrain development IMP
 biological_processGO:0031297 replication fork processing IMP
 biological_processGO:0032206 positive regulation of telomere maintenance IMP
 biological_processGO:0035128 post-embryonic forelimb morphogenesis IMP
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0060009 Sertoli cell development IMP
 biological_processGO:0070192 chromosome organization involved in meiotic cell cycle IMP
 biological_processGO:0070198 protein localization to chromosome, telomeric region IMP
 biological_processGO:0072520 seminiferous tubule development IMP
 biological_processGO:0072711 cellular response to hydroxyurea IMP
 biological_processGO:1900112 regulation of histone H3-K9 trimethylation IEA
 biological_processGO:1901581 negative regulation of telomeric RNA transcription from RNA pol II promoter IMP
 biological_processGO:1901582 positive regulation of telomeric RNA transcription from RNA pol II promoter IEA
 biological_processGO:1904908 negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric IEA
 cellular_componentGO:0000228 nuclear chromosome IDA
 cellular_componentGO:0000780 condensed nuclear chromosome, centromeric region IDA
 cellular_componentGO:0000781 chromosome, telomeric region IEA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IDA
 cellular_componentGO:0000792 heterochromatin IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005721 pericentric heterochromatin IDA
 cellular_componentGO:0016604 nuclear body IEA
 cellular_componentGO:0016605 PML body IDA
 cellular_componentGO:0031618 nuclear pericentric heterochromatin IDA
 cellular_componentGO:0031933 telomeric heterochromatin IDA
 cellular_componentGO:0070603 SWI/SNF superfamily-type complex IEA
 cellular_componentGO:1990707 nuclear subtelomeric heterochromatin IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015616 DNA translocase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0035064 methylated histone binding IEA
 molecular_functionGO:0042393 histone binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070087 chromo shadow domain binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: AtrxGt(P034D09)Wrst/Y
Genetic Background: chimera involves: 129S6/SvEvTac * C57BL/6J

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0000814 absent dentate gyrus "lack of the section of the hippocampus normally situated above the gyrus hippocampi and composed of three layers, the molecular, granular, and polymorphic layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:59284]
Show

Allelic Composition: Nod2tm1Flv/Nod2tm1Flv
Genetic Background: involves: 129S1/Sv * C57BL/6

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

Allelic Composition: Edardl-J/Edardl-J
Genetic Background: involves: FVB/N

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Magel2tm1Stw/Magel2+
Genetic Background: C57BL/6-Magel2tm1Stw

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
Show

Allelic Composition: Nod2tm1Flv/Nod2tm1Flv
Genetic Background: involves: 129S1/Sv * C57BL/6

 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]
Show

Allelic Composition: Edardl-J/Edardl-J
Genetic Background: involves: FVB/N

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0001713 reduced trophoblast cell number "fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:23171]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0001919 abnormal reproductive system physiology "anomaly in the function of the organs associated with producing offspring " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0002084 abnormal developmental patterning "abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Sharpincpdm-Dem/Sharpincpdm-Dem
Genetic Background: CBy.OcB3-Sharpincpdm-Dem

Allelic Composition: AtrxGt(E085A04)Wrst/Y
Genetic Background: chimera involves: 129P2/OlaHsd

Allelic Composition: AtrxGt(P034D09)Wrst/Y
Genetic Background: chimera involves: 129S6/SvEvTac * C57BL/6J

 MP:0002582 disorganized extraembryonic tissue "a lack of the regular arrangement of the membranes involved with the embryo s protection and nutrition" [J:40596, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0002584 small ectoplacental cone 
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0003240 loss of hippocampal neurons "loss of neurons in the hippocampal region of the brain, commonly due to an apoptotic event" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Nod2tm1Flv/Nod2tm1Flv
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Atrxtm1Rjg/Y,Tg(Nes-cre)2472Pick/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0003241 loss of cortex neurons "loss of neurons in the cortex region of the brain, commonly due to an apoptotic event" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Nod2tm1Flv/Nod2tm1Flv
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Atrxtm1Rjg/Y,Tg(Nes-cre)2472Pick/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0003733 abnormal inner nuclear layer morphology "malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Magel2tm1Stw/Magel2+
Genetic Background: C57BL/6-Magel2tm1Stw

 MP:0003787 abnormal imprinting "defect in the normal inactivation of specific loci during gametogenesis" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0005028 abnormal trophectoderm "malformed outermost layer of cells in the blastodermic vesicle, which will contact the endometrium and take part in establishing the embryo s means of nutrition" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0005032 abnormal ectoplacental cone 
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0005241 abnormal retinal ganglion layer morphology "anomalous structure of the innermost nuclear layer of the retina, which projects axons through the optic nerve to the brain " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Magel2tm1Stw/Magel2+
Genetic Background: C57BL/6-Magel2tm1Stw

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Magel2tm1Stw/Magel2+
Genetic Background: C57BL/6-Magel2tm1Stw

 MP:0006068 abnormal horizontal cell morphology "anomalous structure of the laterally interconnecting neurons in the outer plexiform layer" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Magel2tm1Stw/Magel2+
Genetic Background: C57BL/6-Magel2tm1Stw

 MP:0008106 decreased amacrine cell number "reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Magel2tm1Stw/Magel2+
Genetic Background: C57BL/6-Magel2tm1Stw

 MP:0009454 impaired contextual conditioning "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Edardl-J/Edardl-J
Genetic Background: involves: FVB/N

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nod2tm1Flv/Nod2tm1Flv
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nod2tm1Flv/Nod2tm1Flv
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Atrxtm1Rjg/Y,Tg(Nes-cre)2472Pick/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0009971 decreased hippocampus pyramidal cell number "decreased number of the projection neurons in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nod2tm1Flv/Nod2tm1Flv
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Nod2tm1Flv/Nod2tm1Flv
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Atrxtm1Rjg/Y,Tg(Nes-cre)2472Pick/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

Allelic Composition: AtrxGt(E085A04)Wrst/Y
Genetic Background: chimera involves: 129P2/OlaHsd

 MP:0011101 partial prenatal 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 between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Edardl-J/Edardl-J
Genetic Background: involves: FVB/N

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

  


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






 

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