| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 580 |
Name | BARD1 |
Synonym | -;BRCA1 associated RING domain 1;BARD1;BRCA1 associated RING domain 1 |
Definition | BARD-1|BRCA1 associated RING domain 1 isoform alfa|BRCA1 associated RING domain 1 isoform beta|BRCA1 associated RING domain 1 isoform delta|BRCA1 associated RING domain 1 isoform epsilon|BRCA1 associated RING domain 1 isoform eta|BRCA1 associated RING dom |
Position | 2q34-q35 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | BARD1 signaling events;PID Curated;200174 |
Pathway | brca1 dependent ub ligase activity;PID BioCarta;100232 |
Disease | Female reproductive cancer;FunDO |
Disease | breast cancer;GAD |
Disease | neuroblastoma (high-risk);GAD |
Disease | Neuroblastoma (high-risk);NHGRI |
Disease | CANCER;GAD |
Disease | breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer;GAD |
Disease | Cancer;FunDO |
Disease | Breast cancer, susceptibility to;OMIM |
External Links | |
Links to Entrez Gene | 580 |
Links to all GeneRIF Items | 580 |
Links to iHOP | 580 |
Sequence Information | |
Nucleotide Sequence | >580 : length: 2334 atgccggataatcggcagccgaggaaccggcagccgaggatccgctccgggaacgagcct cgttccgcgcccgccatggaaccggatggtcgcggtgcctgggcccacagtcgcgccgcg ctcgaccgcctggagaagctgctgcgctgctcgcgttgtactaacattctgagagagcct gtgtgtttaggaggatgtgagcacatcttctgtagtaattgtgtaagtgactgcattgga actggatgtccagtgtgttacaccccggcctggatacaagacttgaagataaatagacaa ctggacagcatgattcaactttgtagtaagcttcgaaatttgctacatgacaatgagctg tcagatttgaaagaagataaacctaggaaaagtttgtttaatgatgcaggaaacaagaag aattcaattaaaatgtggtttagccctcgaagtaagaaagtcagatatgttgtgagtaaa gcttcagtgcaaacccagcctgcaataaaaaaagatgcaagtgctcagcaagactcatat gaatttgtttccccaagtcctcctgcagatgtttctgagagggctaaaaaggcttctgca agatctggaaaaaagcaaaaaaagaaaactttagctgaaatcaaccaaaaatggaattta gaggcagaaaaagaagatggtgaatttgactccaaagaggaatctaagcaaaagctggta tccttctgtagccaaccatctgttatctccagtcctcagataaatggtgaaatagactta ctagcaagtggctccttgacagaatctgaatgttttggaagtttaactgaagtctcttta ccattggctgagcaaatagagtctccagacactaagagcaggaatgaagtagtgactcct gagaaggtctgcaaaaattatcttacatctaagaaatctttgccattagaaaataatgga aaacgtggccatcacaatagactttccagtcccatttctaagagatgtagaaccagcatt ctgagcaccagtggagattttgttaagcaaacggtgccctcagaaaatataccattgcct gaatgttcttcaccaccttcatgcaaacgtaaagttggtggtacatcagggaggaaaaac agtaacatgtccgatgaattcattagtctttcaccaggtacaccaccttctacattaagt agttcaagttacaggcgagtgatgtctagtccctcagcaatgaagctgttgcccaatatg gctgtgaaaagaaatcatagaggagagactttgctccatattgcttctattaagggcgac ataccttctgttgaataccttttacaaaatggaagtgatccaaatgttaaagaccatgct ggatggacaccattgcatgaagcttgcaatcatgggcacctgaaggtagtggaattattg ctccagcataaggcattggtgaacaccaccgggtatcaaaatgactcaccacttcacgat gcagccaagaatgggcatgtggatatagtcaagctgttactttcctatggagcctccaga aatgctgttaatatatttggtctgcggcctgtcgattatacagatgatgaaagtatgaaa tcgctattgctgctaccagagaagaatgaatcatcctcagctagccactgctcagtaatg aacactgggcagcgtagggatggacctcttgtacttataggcagtgggctgtcttcagaa caacagaaaatgctcagtgagcttgcagtaattcttaaggctaaaaaatatactgagttt gacagtacagtaactcatgttgttgttcctggtgatgcagttcaaagtaccttgaagtgt atgcttgggattctcaatggatgctggattctaaaatttgaatgggtaaaagcatgtcta cgaagaaaagtatgtgaacaggaagaaaagtatgaaattcctgaaggtccacgcagaagc aggctcaacagagaacagctgttgccaaagctgtttgatggatgctacttctatttgtgg ggaaccttcaaacaccatccaaaggacaaccttattaagctcgtcactgcaggtgggggc cagatcctcagtagaaagcccaagccagacagtgacgtgactcagaccatcaatacagtc gcataccatgcgagacccgattctgatcagcgcttctgcacacagtatatcatctatgaa gatttgtgtaattatcacccagagagggttcggcagggcaaagtctggaaggctccttcg agctggtttatagactgtgtgatgtcctttgagttgcttcctcttgacagctga |
Protein Sequence | >580 : length: 777 MPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLEKLLRCSRCTNILREP VCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLDSMIQLCSKLRNLLHDNEL SDLKEDKPRKSLFNDAGNKKNSIKMWFSPRSKKVRYVVSKASVQTQPAIKKDASAQQDSY EFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKWNLEAEKEDGEFDSKEESKQKLV SFCSQPSVISSPQINGEIDLLASGSLTESECFGSLTEVSLPLAEQIESPDTKSRNEVVTP EKVCKNYLTSKKSLPLENNGKRGHHNRLSSPISKRCRTSILSTSGDFVKQTVPSENIPLP ECSSPPSCKRKVGGTSGRKNSNMSDEFISLSPGTPPSTLSSSSYRRVMSSPSAMKLLPNM AVKRNHRGETLLHIASIKGDIPSVEYLLQNGSDPNVKDHAGWTPLHEACNHGHLKVVELL LQHKALVNTTGYQNDSPLHDAAKNGHVDIVKLLLSYGASRNAVNIFGLRPVDYTDDESMK SLLLLPEKNESSSASHCSVMNTGQRRDGPLVLIGSGLSSEQQKMLSELAVILKAKKYTEF DSTVTHVVVPGDAVQSTLKCMLGILNGCWILKFEWVKACLRRKVCEQEEKYEIPEGPRRS RLNREQLLPKLFDGCYFYLWGTFKHHPKDNLIKLVTAGGGQILSRKPKPDSDVTQTINTV AYHARPDSDQRFCTQYIIYEDLCNYHPERVRQGKVWKAPSSWFIDCVMSFELLPLDS |