ENSMUSG00000002221


Mus musculus

Features
Gene ID: ENSMUSG00000002221
  
Biological name :Paxip1
  
Synonyms : PAX-interacting protein 1 / Paxip1 / Q6NZQ4
  
Possible biological names infered from orthology : Q6ZW49
  
Species: Mus musculus
  
Chr. number: 5
Strand: -1
Band: B1
Gene start: 27740080
Gene end: 27791691
  
Corresponding Affymetrix probe sets: 10528840 (MoGene1.0st)   1423302_a_at (Mouse Genome 430 2.0 Array)   1423303_at (Mouse Genome 430 2.0 Array)   1434363_x_at (Mouse Genome 430 2.0 Array)   1454943_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000002291
Ensembl peptide - ENSMUSP00000142578
NCBI entrez gene - 55982     See in Manteia.
MGI - MGI:1890430
RefSeq - XM_017321008
RefSeq - NM_018878
RefSeq - XM_017321005
RefSeq - XM_017321006
RefSeq - XM_017321007
RefSeq - XM_006535758
RefSeq Peptide - NP_061366
swissprot - Q6NZQ4
swissprot - A0A0G2JE02
Ensembl - ENSMUSG00000002221
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 paxip1ENSDARG00000005606Danio rerio
 PAXIP1ENSGALG00000036064Gallus gallus
 PAXIP1ENSG00000157212Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mdc1 / Q14676* / mediator of DNA damage checkpoint 1*ENSMUSG0000006160713


Protein motifs (from Interpro)
Interpro ID Name
 IPR001357  BRCT domain
 IPR036420  BRCT domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000416 positive regulation of histone H3-K36 methylation IMP
 biological_processGO:0001570 vasculogenesis IMP
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006310 DNA recombination 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 IDA
 biological_processGO:0010212 response to ionizing radiation IEA
 biological_processGO:0030330 DNA damage response, signal transduction by p53 class mediator IEA
 biological_processGO:0031398 positive regulation of protein ubiquitination IMP
 biological_processGO:0035066 positive regulation of histone acetylation IMP
 biological_processGO:0043542 endothelial cell migration IMP
 biological_processGO:0045830 positive regulation of isotype switching IMP
 biological_processGO:0048304 positive regulation of isotype switching to IgG isotypes IMP
 biological_processGO:0051568 histone H3-K4 methylation IEA
 biological_processGO:0051571 positive regulation of histone H3-K4 methylation IMP
 biological_processGO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter IEA
 biological_processGO:0060612 adipose tissue development IMP
 biological_processGO:0060717 chorion development IMP
 biological_processGO:1902749 regulation of cell cycle G2/M phase transition IMP
 biological_processGO:2001022 positive regulation of response to DNA damage stimulus IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0016363 nuclear matrix IEA
 cellular_componentGO:0035097 histone methyltransferase complex IEA
 cellular_componentGO:0044666 MLL3/4 complex IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Nonhomologous End-Joining (NHEJ)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000263 absent organized vascular network "formation of vasculature, but failure to differentiate into stereotypic organized pattern" [J:53370]
Show

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0000292 distended pericardial sacs "stretched outer parietal layer of the pericardium" [J:25248]
Show

Allelic Composition: Paxip1L5Jcs4/Paxip1L5Jcs4
Genetic Background: involves: C57BL/6

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0001622 abnormal vasculogenesis "aberrant process of the initial establishment of the vascular network " [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prkntm1Ykt/Prkntm1Ykt,Tg(Prp-GPR37)1Ryot/Tg(Prp-GPR37)1Ryot
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0001689 incomplete somite formation "arrest of differentiation or patterning of the somites" [J:62882]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

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

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

Allelic Composition: Paxip1L5Jcs4/Paxip1L5Jcs4
Genetic Background: involves: C57BL/6

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

 MP:0001701 incomplete embryo turning "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [J:62571]
Show

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

 MP:0001715 placental labyrinth hypoplasia "reduction in cell number of the placental labyrinth, the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61790]
Show

Allelic Composition: Prkntm1Ykt/Prkntm1Ykt,Tg(Prp-GPR37)1Ryot/Tg(Prp-GPR37)1Ryot
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0001722 pale yolk sac "bloodless yolk sac" [J:62571]
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Allelic Composition: Prkntm1Ykt/Prkntm1Ykt,Tg(Prp-GPR37)1Ryot/Tg(Prp-GPR37)1Ryot
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0001726 abnormal allantois "malformed fetal membrane which contributes to the formation of the umbilical cord and placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:12622]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 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: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bcl11btm1Avram/Bcl11btm1Avram,Tg(Cd4-cre)1Cwi/?,Tg(LCKprBCL2)36Sjk/?
Genetic Background: involves: 129 * C57BL/6 * DBA/2

 MP:0003085 abnormal egg cylinder morphology "anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

Allelic Composition: Paxip1L5Jcs4/Paxip1L5Jcs4
Genetic Background: involves: C57BL/6

 MP:0003231 abnormal placental vasculature "malformation in the vessels of the placenta" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
Show

Allelic Composition: Paxip1L5Jcs4/Paxip1L5Jcs4
Genetic Background: involves: C57BL/6

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

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

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

Allelic Composition: Paxip1tm1Gdr/Paxip1tm1Gdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003988 disorganized embryonic tissue "a lack of the regular arrangement of any embryonic tissues" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:58080]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0004046 abnormal mitosis "anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0004073 caudal body truncation "caudal part of body truncated with anterior portion relatively normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

 MP:0004227 increased cellular sensitivity to ionizing radiation "increased incidence of cell death following exposure to high levels of ionizing radiation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

 MP:0005030 absent amnion "missing innermost of the extraembryonic membranes" [dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0008057 abnormal DNA replication "any anomaly in the process whereby new strands of DNA are synthesized" [GO:0006260]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0009657 failure of chorioallantoic fusion "failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

 MP:0010241 abnormal aortic arch development "anomaly in the process of forming the convex portion of the aorta between the ascending and descending parts of the aorta; including formation of the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Paxip1L5Jcs4/Paxip1L5Jcs4
Genetic Background: involves: 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]
Show

Allelic Composition: Bcl11btm1Avram/Bcl11btm1Avram,Tg(Cd4-cre)1Cwi/?,Tg(LCKprBCL2)36Sjk/?
Genetic Background: involves: 129 * C57BL/6 * DBA/2

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

Allelic Composition: Paxip1L5Jcs4/Paxip1L5Jcs4
Genetic Background: involves: C57BL/6

Allelic Composition: Paxip1tm1Gdr/Paxip1tm1Gdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
Show

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

 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: Paxip1L5Jcs4/Paxip1L5Jcs4
Genetic Background: involves: C57BL/6

Allelic Composition: Paxip1L5Jcs36/Paxip1L5Jcs36
Genetic Background: involves: C57BL/6

 MP:0012113 decreased inner cell mass proliferation 
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

 MP:0013504 increased embryonic tissue cell apoptosis "increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]
Show

Allelic Composition: Nr2e1tm1Rtyu/Nr2e1tm1Rtyu
Genetic Background: Not Specified

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000098374 Gm28043 / RNF8* / O76064* / ring finger protein 8*  / complex / reaction
 ENSMUSG00000014074 Q80XJ2 / Rnf168 / E3 ubiquitin-protein ligase RNF168 / Q8IYW5* / ring finger protein 168*  / reaction / complex
 ENSMUSG00000026021 Sumo1 / P63166 / Small ubiquitin-related modifier 1 / P63165* / small ubiquitin-like modifier 1*  / reaction / complex
 ENSMUSG00000057406 Nsd2 / Q8BVE8 / Histone-lysine N-methyltransferase NSD2 / O96028* / nuclear receptor binding SET domain protein 2*  / complex / reaction
 ENSMUSG00000043909 P70399 / Trp53bp1 / TP53-binding protein 1 / Q12888* / TP53BP1* / tumor protein p53 binding protein 1*  / complex / reaction
 ENSMUSG00000031928 Mre11a / Q61216 / Double-strand break repair protein MRE11 / MRE11* / P49959* / MRE11 homolog, double strand break repair nuclease*  / complex / reaction
 ENSMUSG00000034218 Atm / Q62388 / Serine-protein kinase ATM / Q13315* / ATM serine/threonine kinase*  / complex / reaction
 ENSMUSG00000030451 Herc2 / Q4U2R1 / E3 ubiquitin-protein ligase HERC2 / O95714* / HECT and RLD domain containing E3 ubiquitin protein ligase 2*  / reaction / complex
 ENSMUSG00000061607 Mdc1 / Q14676* / mediator of DNA damage checkpoint 1*  / reaction / complex
 ENSMUSG00000022674 Q9D2M8 / Ube2v2 / ubiquitin-conjugating enzyme E2 variant 2 / Q15819* / ubiquitin conjugating enzyme E2 V2*  / reaction / complex
 ENSMUSG00000004934 Pias4 / Q9JM05 / protein inhibitor of activated STAT 4 / Q8N2W9*  / complex / reaction
 ENSMUSG00000036202 Rif1 / Q6PR54 / Telomere-associated protein RIF1 / Q5UIP0* / replication timing regulatory factor 1*  / reaction / complex
 ENSMUSG00000049932 H2afx / P27661 / Histone H2AX / P16104* / H2A histone family member X*  / complex / reaction
 ENSMUSG00000060981 P62806 / Hist1h4h / Histone H4   / reaction / complex
 ENSMUSG00000020380 Rad50 / RAD50 double strand break repair protein / Q92878* / AC116366.3*  / reaction / complex
 ENSMUSG00000028224 Nbn / Q9R207 / Nibrin / O60934*  / reaction / complex
 ENSMUSG00000024926 Kat5 / Q8CHK4 / Histone acetyltransferase KAT5 / Q92993* / lysine acetyltransferase 5*  / reaction / complex
 ENSMUSG00000090083 Rnf8 / Q8VC56 / E3 ubiquitin-protein ligase RNF8 / O76064* / ring finger protein 8*  / complex / reaction
 ENSMUSG00000026648 Q8K4J0 / Dclre1c / Protein artemis / Q96SD1* / DNA cross-link repair 1C*  / reaction / complex






 

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