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Validated All-in-One™ qPCR Primer for BRIP1(NM_032043.2) Search again
Product ID:
HQP020420
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BACH1, FANCJ, OF
Gene Description:
BRCA1 interacting helicase 1
Target Gene Accession:
NM_032043.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq].
Gene References into function
- BRIP1 missense mutation found in a BRCA1/2-negative proband with breast cancer.
- findings show that the BRCA1 BRCT domain directly interacts with phosphorylated BACH1; interaction is cell cycle regulated and required for DNA damage-induced checkpoint control during the transition from G2 to M phase of the cell cycle
- The phosphorylated serine 990 and phenylalanine 993 of BACH1 anchor the binding to BRCA1 through specific interactions with a surface cleft at the junction of the two BRCT repeats
- the X-ray crystal structure at a resolution of 1.85 A of the BRCA1 tandem BRCT domains in complex with a phosphorylated peptide representing the minimal interacting region of the DEAH-box helicase BACH1.
- BACH1 requires nucleic acid continuity in the 5 ' ssDNA tail of the forked duplex substrate within six nucleotides of the ssDNA-dsDNA junction to initiate efficiently DNA unwinding
- Single Nucleotide Polymorphism in BRIP1 is associated with Fanconi anemia
- BACH1 is FANCJ in a Fanconi anemia patient.
- Mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.
- predicts a broader role for FANCJ in DNA damage signaling independent of BRCA1
- FANCJ-replication protein A interaction is likely to be important for the role of the helicase to more efficiently unwind DNA repair intermediates to maintain genomic stability
- Brip1 is a genuine target gene for the E2F/Rb pathway; elevated expression levels of Brip1 are detected in primary invasive breast carcinomas with unfavorable characteristics.
- Unlikely to be a high-risk predisposition gene in non-BRCA1/2 high-risk families but may be associated with other cancers.
- a FANCJ helicase mutant unwinds G-quadruplex DNA to defend genomic stability
- analysis of how the breast cancer genes ATM, BRIP1, PALB2 and CHEK2 affect risk for women with strong family histories [review]
- evidence of a breast cancer-related role for BRIP1.
- The rare allele of BRIP1 rs2191249 shows evidence of association with a poorer prognosis in breast neoplasms.
- recurrent truncating germline mutation in the BRIP1 gene is associated with prostate cancer.