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PMID:11301010

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Citation

Cantor, SB, Bell, DW, Ganesan, S, Kass, EM, Drapkin, R, Grossman, S, Wahrer, DC, Sgroi, DC, Lane, WS, Haber, DA and Livingston, DM (2001) BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105:149-60

Abstract

BRCA1 interacts in vivo with a novel protein, BACH1, a member of the DEAH helicase family. BACH1 binds directly to the BRCT repeats of BRCA1. A BACH1 derivative, bearing a mutation in a residue that was essential for catalytic function in other helicases, interfered with normal double-strand break repair in a manner that was dependent on its BRCA1 binding function. Thus, BACH1/BRCA1 complex formation contributes to a key BRCA1 activity. In addition, germline BACH1 mutations affecting the helicase domain were detected in two early-onset breast cancer patients and not in 200 matched controls. Thus, it is conceivable that, like BRCA1, BACH1 is a target of germline cancer-inducing mutations.

Links

PubMed

Keywords

Adult; Amino Acid Motifs/genetics; BRCA1 Protein/metabolism; Binding Sites/physiology; Boston/epidemiology; Breast Neoplasms/epidemiology; Breast Neoplasms/genetics; Cell Line; Chromosomes, Human, Pair 17/genetics; DNA Helicases/genetics; DNA Helicases/metabolism; DNA Repair/genetics; DNA-Binding Proteins; Female; Genetic Predisposition to Disease/genetics; Genetic Testing; Humans; Molecular Sequence Data; Mutagenesis, Site-Directed; Protein Binding/physiology; Protein Structure, Tertiary/genetics; RNA Helicases/genetics; RNA Helicases/metabolism; Recombinant Fusion Proteins/genetics; Recombinant Fusion Proteins/metabolism; Sequence Homology, Amino Acid; Spectrometry, Mass, Electrospray Ionization; Transfection

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:BRCA1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q9BX63

F

Seeded From UniProt

complete

HUMAN:FANCJ

enables

GO:0003678: DNA helicase activity

ECO:0000303: author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

HUMAN:FANCJ

located_in

GO:0005634: nucleus

ECO:0000303: author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

HUMAN:FANCJ

involved_in

GO:0006302: double-strand break repair

ECO:0000303: author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

HUMAN:FANCJ

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:P38398

F

Seeded From UniProt

complete

HUMAN:BACH1

involved_in

GO:0006281: DNA repair

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:BACH1

GO:0006281: DNA repair

ECO:0000315:

P

Fig. 5 shows that the mutant interferes with BACH1 ability to timely repair double-strand breaks that BRCA1 usually makes.

complete
CACAO 2272


See also

References

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