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Mouse Anti-BRIP1 Recombinant Antibody (CBYY-0812) (CBMAB-0815-YY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYY-0812
Antibody Isotype
IgG1
Application
IH, WB

Basic Information

Immunogen
E. coli-derived recombinant human BRIP1/FANCJ Ser2-Arg160.
Host Species
Mouse
Specificity
Human
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
ApplicationNote
IHC-P8-25 µg/ml
WB1 µg/ml

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Lyophilized
Buffer
PBS, Trehalose
Preservative
None
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
BRIP1
Introduction
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.
Entrez Gene ID
83990
UniProt ID
Q9BX63
Alternative Names
BRCA1 Interacting Protein C-Terminal Helicase 1; BRCA1-Associated C-Terminal Helicase 1; BRCA1/BRCA2-Associated Helicase 1; ATP-Dependent RNA Helicase BRIP1; BACH1; FANCJ; BRCA1-Interacting Protein C-Terminal Helicase 1; BRCA1-Binding Helicase-Like Protein BACH1;
Function
DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.
Biological Process
Cellular response to angiotensin Source: Ensembl
Cellular response to hypoxia Source: Ensembl
Cellular response to vitamin Source: Ensembl
Chiasma assembly Source: Ensembl
DNA damage checkpoint Source: UniProtKB
DNA replication Source: Reactome
Double-strand break repair Source: UniProtKB
Double-strand break repair involved in meiotic recombination Source: GO_Central
Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination Source: Ensembl
Negative regulation of cell population proliferation Source: Ensembl
Negative regulation of gene expression Source: Ensembl
Nucleotide-excision repair Source: GO_Central
Regulation of signal transduction by p53 class mediator Source: Reactome
Regulation of transcription by RNA polymerase II Source: MGI
Response to toxic substance Source: Ensembl
Seminiferous tubule development Source: Ensembl
Spermatid development Source: Ensembl
Spermatogonial cell division Source: Ensembl
Cellular Location
Nucleus; Cytoplasm
Involvement in disease
Breast cancer (BC): A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Fanconi anemia complementation group J (FANCJ): A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
PTM
Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.
Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling.
More Infomation

Calvo, J. A., Fritchman, B., Hernandez, D., Persky, N. S., Johannessen, C. M., Piccioni, F., ... & Cantor, S. B. (2021). Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1. Molecular Cancer Research, 19(6), 1015-1025.

Rizeq, B., Sif, S., Nasrallah, G. K., & Ouhtit, A. (2020). Novel role of BRCA1 interacting C‐terminal helicase 1 (BRIP1) in breast tumour cell invasion. Journal of cellular and molecular medicine, 24(19), 11477-11488.

Singal, M., Godbole, M. M., Povenzano, K., Elmore, B., & Patel, M. P. (2020). Abstract P6-08-31: BRCA1 interacting protein C-terminal helicase 1 (BRIP1) as a cancer susceptibility gene.

Kamal, L., Pierce, S. B., Canavati, C., Rayyan, A. A., Jaraysa, T., Lobel, O., ... & Kanaan, M. N. (2020). Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities. Molecular Case Studies, 6(5), a005652.

Moyer, C. L., Ivanovich, J., Gillespie, J. L., Doberstein, R., Radke, M. R., Richardson, M. E., ... & Goodfellow, P. J. (2020). Rare BRIP1 missense alleles confer risk for ovarian and breast cancer. Cancer research, 80(4), 857-867.

Ali, M., Delozier, C. D., & Chaudhary, U. (2019). BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. BMC medical genetics, 20(1), 1-5.

Gohil, S., Barwell, J., & Levy, M. (2019, November). Arg798Ter BRIP-1 mutation associated with metastatic phaeochromocytoma. In Society for Endocrinology BES 2019 (Vol. 65). BioScientifica.

Ma, B., Wu, J., & Ma, B. (2019). Association between single nucleotide polymorphism of BRCA1-interacting protein C-terminal helicase 1 and early-onset breast cancer in Uygur and Han women in Xinjiang of China. Biotechnology & Biotechnological Equipment, 33(1), 1750-1756.

Adams, C. L., Ciccone, M. A., Gruber, S. B., & McDonnell, K. (2017). BRCA1, DNA repair associated (BRCA1)-and BRCA1 Interacting Protein C-terminal Helicase 1 (BRIP1)-Mutated Ovarian Epithelial Cells Acquire a Cancer Stem Cell-Like Phenotype and Decreased Sensitivity to Cisplatin and Olaparib in Three Dimensional Spheroid Culture. Gynecologic Oncology, 147(1), 196.

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For research use only. Not intended for any clinical use.

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