ENSG00000138376


Homo sapiens

Features
Gene ID: ENSG00000138376
  
Biological name :BARD1
  
Synonyms : BARD1 / BRCA1 associated RING domain 1 / Q99728
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q35
Gene start: 214725646
Gene end: 214809711
  
Corresponding Affymetrix probe sets: 205345_at (Human Genome U133 Plus 2.0 Array)   227545_at (Human Genome U133 Plus 2.0 Array)   242655_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000412186
Ensembl peptide - ENSP00000484976
Ensembl peptide - ENSP00000484464
Ensembl peptide - ENSP00000483275
Ensembl peptide - ENSP00000482293
Ensembl peptide - ENSP00000481988
Ensembl peptide - ENSP00000480470
Ensembl peptide - ENSP00000260947
Ensembl peptide - ENSP00000392245
Ensembl peptide - ENSP00000405020
NCBI entrez gene - 580     See in Manteia.
OMIM - 601593
RefSeq - XM_017004614
RefSeq - NM_000465
RefSeq - NM_001282543
RefSeq - NM_001282545
RefSeq - NM_001282548
RefSeq - NM_001282549
RefSeq - XM_017004613
RefSeq Peptide - NP_001269474
RefSeq Peptide - NP_001269477
RefSeq Peptide - NP_001269478
RefSeq Peptide - NP_000456
RefSeq Peptide - NP_001269472
swissprot - F6MDI1
swissprot - F8WCG2
swissprot - A0A087X2H0
swissprot - A0A087X0C6
swissprot - A0A087WZ19
swissprot - C9IYG1
swissprot - Q99728
swissprot - C9J6M1
Ensembl - ENSG00000138376
  
Related genetic diseases (OMIM): 114480 - {Breast cancer, susceptibility to}, 114480
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bard1ENSDARG00000076733Danio rerio
 BARD1ENSGALG00000003484Gallus gallus
 Bard1ENSMUSG00000026196Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8N7Z5 / ANKRD31 / ankyrin repeat domain 31ENSG0000014570023
Q6UB98 / ANKRD12 / ankyrin repeat domain 12ENSG0000010174518
Q6UB99 / ANKRD11 / ankyrin repeat domain 11ENSG0000016752218
BCOR / Q6W2J9 / BCL6 corepressorENSG0000018333718
SLF1 / Q9BQI6 / SMC5-SMC6 complex localization factor 1ENSG0000013330217
TONSL / Q96HA7 / tonsoku like, DNA repair proteinENSG0000016094916
BCORL1 / Q5H9F3 / BCL6 corepressor like 1ENSG0000008518515


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:0000729 DNA double-strand break processing TAS
 biological_processGO:0000731 DNA synthesis involved in DNA repair TAS
 biological_processGO:0000732 strand displacement TAS
 biological_processGO:0001894 tissue homeostasis TAS
 biological_processGO:0006260 DNA replication TAS
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus NAS
 biological_processGO:0007050 cell cycle arrest NAS
 biological_processGO:0016567 protein ubiquitination NAS
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0031441 negative regulation of mRNA 3"-end processing NAS
 biological_processGO:0042325 regulation of phosphorylation IMP
 biological_processGO:0043065 positive regulation of apoptotic process IMP
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0045732 positive regulation of protein catabolic process NAS
 biological_processGO:0046826 negative regulation of protein export from nucleus IDA
 biological_processGO:0085020 protein K6-linked ubiquitination IDA
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 cellular_componentGO:0000151 ubiquitin ligase complex NAS
 cellular_componentGO:0005634 nucleus IMP
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0031436 BRCA1-BARD1 complex IDA
 cellular_componentGO:0036464 cytoplasmic ribonucleoprotein granule IDA
 cellular_componentGO:0070531 BRCA1-A complex IDA
 molecular_functionGO:0003723 RNA binding IDA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019900 kinase binding NAS
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IPI


Pathways (from Reactome)
Pathway description
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
UCH proteinases
Metalloprotease DUBs
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
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
 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
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 HP:0002894 Pancreatic cancer 
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 HP:0003002 Breast cancer 
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 HP:0011027 Abnormality of the fallopian tube "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson]
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 HP:0012125 Prostate cancer "A cancer of the `prostate` (FMA:9600)." [HPO:probinson]
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 HP:0030406 Primary peritoneal carcinoma "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson]
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000136492 BRIP1 / Q9BX63 / BRCA1 interacting protein C-terminal helicase 1  / complex / reaction
 ENSG00000104320 NBN / nibrin / O60934  / complex / reaction
 ENSG00000106399 RPA3 / P35244 / replication protein A3  / complex / reaction
 ENSG00000111247 Q96B01 / RAD51AP1 / RAD51 associated protein 1  / complex
 ENSG00000132383 RPA1 / P27694 / replication protein A1  / complex / reaction
 ENSG00000083093 PALB2 / Q86YC2 / partner and localizer of BRCA2  / complex
 ENSG00000175643 RMI2 / Q96E14 / RecQ mediated genome instability 2  / complex / reaction
 ENSG00000051180 RAD51 / Q06609 / RAD51 recombinase  / complex
 ENSG00000165392 WRN / Q14191 / Werner syndrome RecQ like helicase  / complex / reaction
 ENSG00000117748 RPA2 / P15927 / replication protein A2  / complex / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / complex / reaction
 ENSG00000178966 RMI1 / Q9H9A7 / RecQ mediated genome instability 1  / complex / reaction
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / complex / reaction
 ENSG00000177302 TOP3A / Q13472 / DNA topoisomerase III alpha  / complex / reaction
 ENSG00000164053 ATRIP / Q8WXE1 / ATR interacting protein  / complex / reaction
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / complex / reaction
 ENSG00000138346 DNA2 / P51530 / DNA replication helicase/nuclease 2  / complex / reaction
 ENSG00000174371 EXO1 / Q9UQ84 / exonuclease 1  / complex / reaction
 ENSG00000175054 ATR / Q13535 / ATR serine/threonine kinase  / complex / reaction
 ENSG00000197299 BLM / P54132 / Bloom syndrome RecQ like helicase  / complex / reaction
 ENSG00000139618 BRCA2 / P51587 / BRCA2, DNA repair associated  / complex
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / complex / reaction
 ENSG00000163930 BAP1 / Q92560 / BRCA1 associated protein 1  / complex / reaction
 ENSG00000101773 RBBP8 / Q99708 / RB binding protein 8, endonuclease  / complex / reaction
 ENSG00000012048 BRCA1 / P38398 / BRCA1, DNA repair associated  / complex / reaction






 

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