• Gene id: 580

Gene Summary

• Gene Symbol: BARD1   Gene   UCSC   Ensembl
• Gene name: BRCA1 associated RING domain 1
• Alternate names: BRCA1-associated RING domain protein 1, BRCA1-associated RING domain gene 1, RING-type E3 ubiquitin transferase BARD1,
• Gene location: 2q35 (214809682: 214725644)     Exons: 13     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRC
• OMIM: 601762

SNPs

rs12339229

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.28093234C>T
NC_000009.11   g.28093232C>T|SEQ=[C/T]|GENE=LINGO2

Protein Summary

• Protein general information: Q99728  
  • Name: BRCA1 associated RING domain protein 1 (BARD 1) (EC 2.3.2.27) (RING type E3 ubiquitin transferase BARD1)
  • Length: 777  
  • Mass: 86648
• Sequence:

  MPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLEKLLRCSRCTNILREPVCLGGCEHIFCSNCV
  SDCIGTGCPVCYTPAWIQDLKINRQLDSMIQLCSKLRNLLHDNELSDLKEDKPRKSLFNDAGNKKNSIKMWFSPR
  SKKVRYVVSKASVQTQPAIKKDASAQQDSYEFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKWNLEAEKE
  DGEFDSKEESKQKLVSFCSQPSVISSPQINGEIDLLASGSLTESECFGSLTEVSLPLAEQIESPDTKSRNEVVTP
  EKVCKNYLTSKKSLPLENNGKRGHHNRLSSPISKRCRTSILSTSGDFVKQTVPSENIPLPECSSPPSCKRKVGGT
  SGRKNSNMSDEFISLSPGTPPSTLSSSSYRRVMSSPSAMKLLPNMAVKRNHRGETLLHIASIKGDIPSVEYLLQN
  GSDPNVKDHAGWTPLHEACNHGHLKVVELLLQHKALVNTTGYQNDSPLHDAAKNGHVDIVKLLLSYGASRNAVNI
  FGLRPVDYTDDESMKSLLLLPEKNESSSASHCSVMNTGQRRDGPLVLIGSGLSSEQQKMLSELAVILKAKKYTEF
  DSTVTHVVVPGDAVQSTLKCMLGILNGCWILKFEWVKACLRRKVCEQEEKYEIPEGPRRSRLNREQLLPKLFDGC
  YFYLWGTFKHHPKDNLIKLVTAGGGQILSRKPKPDSDVTQTINTVAYHARPDSDQRFCTQYIIYEDLCNYHPERV
  RQGKVWKAPSSWFIDCVMSFELLPLDS

• Structural information:
  • Protein Domains: (560..65-)
    (/note="BRCT-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (667..77-)
    (/note="BRCT-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR039503  IPR001357   IPR036420  IPR001841  IPR013083  IPR017907  
  • Prosite: PS50297 PS50088 PS50172 PS00518 PS50089
  • CDD: cd16496
  • PDB: 1JM7 2NTE 2R1Z 3C5R 3FA2
  • PDBsum: 1JM7 2NTE 2R1Z 3C5R 3FA2
  • DIP: 5972
  • STRING: ENSP00000260947
• Other Databases: GeneCards:  BARD1  Malacards:  BARD1

Gene ontology

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

KEGG pathways

Pathway id	Pathway name
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Breast cancer	PMID:16152612
Breast cancer	PMID:17028982
Ovarian cancer	PMID:16152612
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881