ENSMUSG00000026196


Mus musculus

Features
Gene ID: ENSMUSG00000026196
  
Biological name :Bard1
  
Synonyms : Bard1 / BRCA1-associated RING domain protein 1 / O70445
  
Possible biological names infered from orthology : BRCA1 associated RING domain 1 / Q99728
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: C3
Gene start: 71027498
Gene end: 71103146
  
Corresponding Affymetrix probe sets: 10355325 (MoGene1.0st)   10355327 (MoGene1.0st)   10355329 (MoGene1.0st)   1420594_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000027393
NCBI entrez gene - 12021     See in Manteia.
MGI - MGI:1328361
RefSeq - XM_006495632
RefSeq - NM_007525
RefSeq - XM_006495631
RefSeq Peptide - NP_031551
swissprot - O70445
Ensembl - ENSMUSG00000026196
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bard1ENSDARG00000076733Danio rerio
 BARD1ENSGALG00000003484Gallus gallus
 BARD1ENSG00000138376Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ankrd31 / ankyrin repeat domain 31 / Q8N7Z5*ENSMUSG0000010956118
Ankrd12 / ankyrin repeat domain 12 / Q6UB98*ENSMUSG0000003464717
Bcor / Q8CGN4 / BCL-6 corepressor / Q6W2J9*ENSMUSG0000004036316
E9Q4F7 / Ankrd11 / Ankyrin repeat domain-containing protein 11 / Q6UB99* / ankyrin repeat domain 11*ENSMUSG0000003556915
Tonsl / tonsoku-like, DNA repair protein / Q96HA7*ENSMUSG0000005932315
Slf1 / Q8R3P9 / SMC5-SMC6 complex localization factor 1 / Q9BQI6*ENSMUSG0000002159714
A2AQH4 / Bcorl1 / BCL-6 corepressor-like protein 1 / Q5H9F3* / BCL6 corepressor like 1*ENSMUSG0000003695914


Protein motifs (from Interpro)
Interpro ID Name
 IPR001357  BRCT domain
 IPR001841  Zinc finger, RING-type
 IPR002110  Ankyrin repeat
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR017907  Zinc finger, RING-type, conserved site
 IPR020683  Ankyrin repeat-containing domain
 IPR033097  BRCA1-associated RING domain protein 1
 IPR036420  BRCT domain superfamily
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0042325 regulation of phosphorylation IEA
 biological_processGO:0043065 positive regulation of apoptotic process ISS
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0046826 negative regulation of protein export from nucleus IEA
 biological_processGO:0085020 protein K6-linked ubiquitination IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0016607 nuclear speck IEA
 cellular_componentGO:0031436 BRCA1-BARD1 complex ISO
 cellular_componentGO:0036464 cytoplasmic ribonucleoprotein granule IEA
 cellular_componentGO:0070531 BRCA1-A complex IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
UCH proteinases
Metalloprotease DUBs
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Ptch1tm1.1Bjw/Ptch1tm1.1Bjw
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0001695 abnormal gastrulation "anomalous development and invagination of the embryonic germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ptch1tm1.1Bjw/Ptch1tm1.1Bjw
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Bard1tm1Thl/Bard1tm1Thl,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S1/Sv * 129S2/SvPas

 MP:0001883 mammary adenocarcinoma "higher than normal incidence of malignant tumors of the mammary gland" [J:62919]
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Allelic Composition: Bard1tm1Thl/Bard1tm2Thl,Waptm1(cre)Arge/0
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Bard1tm2Thl/Bard1tm2Thl,Waptm1(cre)Arge/0
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6J

Allelic Composition: Bard1tm2Thl/Bard1tm2Thl,Brca1tm1Thl/Brca1tm1Thl,Waptm1(cre)Arge/0
Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6J

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bard1tm1Thl/Bard1tm1Thl,Brca1tm1Arge/Brca1tm1Arge
Genetic Background: involves: 129S/SvEv * 129S1/Sv

 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: Ptch1tm1.1Bjw/Ptch1tm1.1Bjw
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Bard1tm1Thl/Bard1tm1Thl,Brca1tm1Arge/Brca1tm1Arge
Genetic Background: involves: 129S/SvEv * 129S1/Sv

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptch1tm1.1Bjw/Ptch1tm1.1Bjw
Genetic Background: involves: 129T2/SvEms * C57BL/6J

Allelic Composition: Bard1tm1Thl/Bard1tm1Thl,Brca1tm1Arge/Brca1tm1Arge
Genetic Background: involves: 129S/SvEv * 129S1/Sv

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dkk1tm1Lmgd/Dkk1+,Kremen1tm1Dgen/Kremen1tm1Dgen,Kremen2tm1Cni/Kremen2tm1Cni
Genetic Background: either: B6.Cg-Kremen1tm1Dgen Kremen2tm1Cni Dkk1tm1Lmgd or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 MP:0004028 chromosome breakage "chromosome instability in the from of increased frequency of spontaneous breakage with or without rearrangements" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Bard1tm1Thl/Bard1tm1Thl,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S1/Sv * 129S2/SvPas

 MP:0004965 inner cell mass degeneration 
Show

Allelic Composition: Ptch1tm1.1Bjw/Ptch1tm1.1Bjw
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 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: Dkk1tm1Lmgd/Dkk1+,Kremen1tm1Dgen/Kremen1tm1Dgen,Kremen2tm1Cni/Kremen2tm1Cni
Genetic Background: either: B6.Cg-Kremen1tm1Dgen Kremen2tm1Cni Dkk1tm1Lmgd or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

 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: Ptch1tm1.1Bjw/Ptch1tm1.1Bjw
Genetic Background: involves: 129T2/SvEms * C57BL/6J

 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: Bard1tm1Thl/Bard1tm1Thl,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S1/Sv * 129S2/SvPas

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000751 Rpa1 / Q8VEE4 / Replication protein A 70 kDa DNA-binding subunit / P27694* / replication protein A1*  / complex / reaction
 ENSMUSG00000017146 Brca1 / P48754 / Breast cancer type 1 susceptibility protein homolog / P38398* / BRCA1, DNA repair associated*  / complex / reaction
 ENSMUSG00000020380 Rad50 / RAD50 double strand break repair protein / Q92878* / AC116366.3*  / complex / reaction
 ENSMUSG00000012483 Rpa3 / Q9CQ71 / Replication protein A 14 kDa subunit / P35244* / replication protein A3*  / reaction / complex
 ENSMUSG00000021901 Bap1 / Q99PU7 / Ubiquitin carboxyl-terminal hydrolase BAP1 / Q92560* / BRCA1 associated protein 1*  / complex / reaction
 ENSMUSG00000030346 Rad51ap1 / RAD51-associated protein 1 isoform 2 / Q96B01* / RAD51 associated protein 1*  / complex
 ENSMUSG00000002814 Top3a / O70157 / topoisomerase (DNA) III alpha / Q13472* / DNA topoisomerase III alpha*  / reaction / complex
 ENSMUSG00000031583 Wrn / O09053 / Werner syndrome RecQ like helicase / Q14191*  / complex / reaction
 ENSMUSG00000028884 Rpa2 / replication protein A2 / P15927*  / complex / reaction
 ENSMUSG00000032409 Atr / ATR serine/threonine kinase / Q13535*  / reaction / complex
 ENSMUSG00000044702 Palb2 / Q3U0P1 / Partner and localizer of BRCA2 / Q86YC2*  / complex
 ENSMUSG00000039748 Exo1 / Q9QZ11 / Exonuclease 1 / Q9UQ84*  / reaction / complex
 ENSMUSG00000025646 Atrip / Q8BMG1 / ATR-interacting protein / Q8WXE1*  / reaction / complex
 ENSMUSG00000034329 Brip1 / Q5SXJ3 / Fanconi anemia group J protein homolog / Q9BX63* / BRCA1 interacting protein C-terminal helicase 1*  / complex / reaction
 ENSMUSG00000034218 Atm / Q62388 / Serine-protein kinase ATM / Q13315* / ATM serine/threonine kinase*  / complex / reaction
 ENSMUSG00000036875 Dna2 / Q6ZQJ5 / DNA replication ATP-dependent helicase/nuclease DNA2 DNA replication nuclease DNA2 DNA replication ATP-dependent helicase DNA2 / P51530* / DNA replication helicase/nuclease 2*  / complex / reaction
 ENSMUSG00000024926 Kat5 / Q8CHK4 / Histone acetyltransferase KAT5 / Q92993* / lysine acetyltransferase 5*  / complex / reaction
 ENSMUSG00000028224 Nbn / Q9R207 / Nibrin / O60934*  / complex / reaction
 ENSMUSG00000030528 Blm / O88700 / Bloom syndrome protein homolog / P54132* / Bloom syndrome RecQ like helicase*  / complex / reaction
 ENSMUSG00000035367 Rmi1 / Q9D4G9 / RecQ-mediated genome instability protein 1 / Q9H9A7* / RecQ mediated genome instability 1*  / reaction / complex
 ENSMUSG00000031928 Mre11a / Q61216 / Double-strand break repair protein MRE11 / MRE11* / P49959* / MRE11 homolog, double strand break repair nuclease*  / complex / reaction
 ENSMUSG00000037991 Rmi2 / Q3UPE3 / RecQ-mediated genome instability protein 2 / Q96E14* / RecQ mediated genome instability 2*  / complex / reaction
 ENSMUSG00000041238 Rbbp8 / Q80YR6 / retinoblastoma binding protein 8, endonuclease / Q99708* / RB binding protein 8, endonuclease*  / complex / reaction
 ENSMUSG00000041147 Brca2 / P97929 / Breast cancer type 2 susceptibility protein homolog / P51587* / BRCA2, DNA repair associated*  / complex






 

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