Breast cancer type 1 susceptibility protein (Protein name
), BRCA1_HUMAN from NCBI database.
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General Annotation
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Antigen Annotation
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Predicted Eptitope
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Vaild Sequence
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Gene name:
BRCA1(RNF53);
Protein name:
Breast cancer type 1 susceptibility protein;
Alternative:
RING finger protein 53;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Heterodimer with BARD1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. Interacts (via BRCT domains) with FAM175A/Abraxas and RBBP8. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A and COBRA1/NELFB. Interacts (via BRCT domains) with phosphorylated BRIP1. Interacts with FANCD2 (ubiquitinated). Interacts with BAP1. Interacts with DCLRE1C/Artemis and CLSPN. Interacts with H2AFX (phosphorylated on 'Ser-140'). Interacts with CHEK1/CHK1. Interacts with BRCC3. Interacts (via BRCT domains) with ACACA (phosphorylated); the interaction prevents dephosphorylation of ACACA. Interacts with AURKA. Interacts with UBXN1. Part of a trimeric complex containing BRCA1, BRCA2 and PALB2. Interacts with PALB2 and this interaction is essential for its function in HRR. Interacts with BRCA2 only in the presence of PALB2 which serves as the bridging protein.
Function:
E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks.
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Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT BC ARG-1775
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Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3);SUBCELLULAR LOCATION (ISOFORM 2);VARIANTS ARG-239 AND GLY-1613;TISSUE SPECIFICITY (ISOFORMS 1 AND 3)
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Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ARG-356
6.
NIEHS SNPs program
Submitted (2003-04) to the EMBL/GenBank/DDBJ databases
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Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS SER-275; ARG-356; ASN-693; LEU-871; GLY-1038; ASN-1040; GLY-1140; ARG-1183; GLY-1613 AND ALA-1620
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Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 6 AND 7);VARIANTS LEU-871; GLY-1038; ARG-1183; GLY-1613 AND ILE-1652
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Cited for: PROTEIN SEQUENCE OF 6-18 (ISOFORM 1);PROTEIN SEQUENCE OF 18-26 (ISOFORM 4);ALTERNATIVE INITIATION (ISOFORM 4)
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Cited for: ALTERNATIVE SPLICING (ISOFORM 5);SUBCELLULAR LOCATION (ISOFORM 5)
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Cited for: INTERACTION WITH BAP1;SUBCELLULAR LOCATION;VARIANTS GLY-61 AND GLY-64;MUTAGENESIS OF ARG-71
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Cited for: FUNCTION AS AN E2-DEPENDENT UBIQUITIN-PROTEIN LIGASE
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Cited for: PHOSPHORYLATION AT SER-1143; SER-1280; SER-1387; THR-1394; SER-1423 AND SER-1457;MUTAGENESIS OF SER-1143; SER-1239; SER-1280; SER-1298; SER-1330; SER-1387; THR-1394; SER-1423; SER-1457; SER-1466; SER-1524 AND SER-1755;CHARACTERIZATION OF VARIANT BC ALA-1720
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Cited for: FUNCTION IN DNA DAMAGE RESPONSE;PHOSPHORYLATION AT SER-988 BY CHEK2;INTERACTION WITH CHEK2
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Cited for: INTERACTION WITH BRIP1;CHARACTERIZATION OF VARIANT OVARIAN CANCER ARG-1749;CHARACTERIZATION OF VARIANT BC ARG-1775
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Cited for: PHOSPHORYLATION BY ATM;MUTAGENESIS OF SER-1387; SER-1423 AND SER-1524
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Cited for: INTERACTION WITH AURKA;FUNCTION;MUTAGENESIS OF SER-308;PHOSPHORYLATION AT SER-308
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Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1336;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: FUNCTION;INTERACTION WITH RBBP8;MUTAGENESIS OF ILE-26
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Cited for: FUNCTION;PHOSPHORYLATION BY AURKA;ENZYME REGULATION
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Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: FUNCTION;SUBCELLULAR LOCATION;INTERACTION WITH FAM175A
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Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-395; SER-398; SER-753; SER-1211; SER-1217 AND SER-1218;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: IDENTIFICATION BY MASS SPECTROMETRY;FUNCTION;INTERACTION WITH PALB2;IDENTIFICATION IN A BRCA COMPLEX WITH BRCA1 AND PALB2;CHARACTERIZATION OF VARIANT OVARIAN CANCER 1411-THR
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Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-395 AND SER-398;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: FUNCTION;INTERACTION WITH BARD1 AND UBXN1;UBIQUITINATION;MUTAGENESIS OF ILE-26
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Cited for: FUNCTION IN CHROMOSOMAL STABILITY;PHOSPHORYLATION AT SER-988 BY CHEK2
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Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-114; SER-423; SER-694; SER-1328; SER-1336 AND SER-1342;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: PHOSPHORYLATION AT SER-1524;SUBCELLULAR LOCATION
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Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-114; SER-1218; SER-1336 AND SER-1342;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: STRUCTURE BY NMR OF 1-110 IN COMPLEX WITH ZINC IONS AND BARD1;SUBUNIT
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Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 1646-1859;PARTIAL PROTEIN SEQUENCE;IDENTIFICATION BY MASS SPECTROMETRY
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Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 1646-1859 OF VARIANT BC ARG-1775;CHARACTERIZATION OF VARIANT BC ARG-1775;CIRCULAR DICHROISM
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Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 1649-1859 IN COMPLEX WITH WITH PHOSPHORYLATED BRIP1 PEPTIDE;MUTAGENESIS OF SER-1655; LYS-1702 AND GLY-1738;CHARACTERIZATION OF VARIANT OVARIAN CANCER ARG-1749;CHARACTERIZATION OF VARIANT BC ARG-1775;SUBCELLULAR LOCATION;INTERACTION WITH PHOSPHORYLATED BRIP1
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Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 1646-1859 IN COMPLEX WITH PHOSPHORYLATED RBBP8 PEPTIDE;SUBUNIT
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Cited for: X-RAY CRYSTALLOGRAPHY (3.21 ANGSTROMS) OF 1646-1859 IN COMPLEX WITH PHOSPHORYLATED ACACA PEPTIDE;SUBUNIT
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Cited for: X-RAY CRYSTALLOGRAPHY (3.6 ANGSTROMS) OF 1649-1859 OF VARIANT BC LYS-1775;VARIANT BC LYS-1775;CHARACTERIZATION OF VARIANT BC LYS-1775
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Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 1646-1859 IN COMPLEX WITH PHOSPHORYLATED PEPTIDES;DOMAIN
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Cited for: VARIANT BC ARG-1775;VARIANTS LEU-1637 AND GLU-1708
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Cited for: VARIANT BC GLY-64;VARIANTS ALA-772; ASN-1040 AND GLY-1443
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Cited for: VARIANT BC GLY-61;VARIANTS ARG-356; GLY-1038; ASN-1040; ARG-1183 AND GLY-1613
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Cited for: VARIANT BC GLY-61;VARIANTS ARG-239; TRP-841 AND ILE-1512
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Cited for: VARIANT BC GLY-64;VARIANTS ALA-772; GLU-820; ASN-1040; GLY-1443; ILE-1512; LEU-1637 AND ILE-1652
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Cited for: VARIANTS BC SER-22; LEU-461; ASP-465; VAL-552; SER-892; ASP-960; ILE-1025 AND ALA-1047
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Cited for: VARIANT BC SER-346;VARIANTS LEU-871; GLY-1038; ARG-1183 AND GLY-1613
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Cited for: VARIANTS BC GLY-61; LYS-71; GLN-866; TYR-888; ILE-1139; GLY-1210 AND PRO-1297;VARIANTS BROVCA1 TYR-835 AND PRO-1786
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Cited for: VARIANTS ASN-693; ASN-1040; ALA-1060 AND MET-1665
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Cited for: VARIANTS OVARIAN CANCER GLY-61; THR-1411; ARG-1697 AND TRP-1699
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Cited for: VARIANTS BC/BROVCA1 LYS-10; LYS-23; ILE-1187; HIS-1200 AND TYR-1217;VARIANTS BC ILE-1204 AND ASN-1207;VARIANTS BROVCA1 LEU-1226 AND GLY-1243;VARIANT ARG-1183
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Cited for: VARIANTS HIS-856; LEU-871; GLY-1038; ARG-1183; THR-1628; GLN-1690 AND GLY-1713
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Cited for: VARIANTS [LARGE SCALE ANALYSIS] PHE-30; PHE-758 AND CYS-778
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Cited for: VARIANTS THR-18; MET-1495; GLY-1623; ILE-1685; ALA-1685; ARG-1689; TRP-1699; GLU-1706; GLU-1708; ARG-1715; ARG-1738; PRO-1764; SER-1766 AND VAL-1788
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Cited for: CHARACTERIZATION OF VARIANTS GLY-1623 AND ILE-1685