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CtIP Rabbit pAb (bs-6137R)  
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產品編號 bs-6137R
英文名稱 CtIP Rabbit pAb
中文名稱 視網膜母細胞瘤結合蛋白8抗體
別    名 COM1_HUMAN antibody CtBP interacting protein antibody CtBP-interacting protein antibody CtIP antibody DNA endonuclease RBBP8; RBBBP8; RBBP-8; RBBP8; Retinoblastoma-binding protein 8; Retinoblastoma-interacting protein and myosin-like; RIM; SAE2; Sporulati  
研究領域 腫瘤  細胞生物  免疫學  染色質和核信號  細胞周期蛋白  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human,Mouse,Rat,Pig,Chicken)
產品應用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 102 kDa
檢測分子量
細胞定位 細胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human CtIP/RBBP8: 621-720/897 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined.

Function:
Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in processing meiotic and mitotic double-strand breaks (DSBs) by ensuring both resection and intrachromosomal association of the broken ends. Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage. Promotes microhomology-mediated alternative end joining (A-NHEJ) during class-switch recombination and plays an essential role in chromosomal translocations.

Subunit:
Homodimer; dimerizes via the coiled coil domain. Interacts (via the PXDLS motif) with CTBP1; the interaction is disrupted via binding of the adenovirus E1A to CTBP1. Component of the BRCA1-RBBBP8 complex. Interacts (the Ser-327 phosphorylated form) with BRCA1 (via the C-terminal BRCA1 domains): the interaction occurs in the G2 phase, ubiquitinates RBBP8 and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage. Interacts with RB1. Interacts with the MRN complex. Interacts directly with MRE11A; the interaction is required for efficient homologous recombination (HR) and regulation of the MRN complex. Interacts directly with RAD50. Interacts directly with NBN. Interacts with SIRT6; the interaction deacetylates RBBP8 upon DNA damage. Interacts with LM04 (via the LIM zinc-binding 1 domain).

Subcellular Location:
Nucleus. Note=Associates with sites of DNA damage in S/G2 phase. Ubiquitinated RBBP8 binds to chromatin following DNA damage.

Post-translational modifications:
Acetylated. Deacetylation by SIRT6 upon DNA damage promotes DNA end resection.
Phosphorylated upon DNA damage, probably by ATM or ATR. Hyperphosphorylation upon ionizing radiation results in dissociation from BRCA1. Phosphorylation at Thr-847 by CDK1 is essential for the recruitment to DNA and the DNA repair function. Phosphorylated on Ser-327 as cells enter G2 phase. This phosphorylation is required for binding BRCA1 and for the G2/M DNA damage transition checkpoint control.
Ubiquitinated. Ubiquitination at multiple sites by BRCA1 (via its N-terminal RING domain) does not lead to its proteosomal degradation but instead the ubiquitinated RBBP8 binds to chromatin following DNA damage and may play a role in G2/M checkpoint control.

DISEASE:
Defects in RBBP8 are a cause of Seckel syndrome type 2 (SCKL2) [MIM:606744]. SCKL2 is a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
Defects in RBBP8 are a cause of Jawad disease (JWDS) [MIM:251255]. JWDS is a syndrome characterized by congenital microcephaly, moderately severe mental retardation, and symmetrical digital anomalies. Digital malformations of variable degree inclued hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly.
Note=Genetic variability in RBBP8 is noted as a factor in BRCA1-associated breast cancer risk. Exhibits sensitivity to tamoxifen in certain breast cancer cell lines.

Similarity:
Belongs to the COM1/SAE2/CtIP family.

SWISS:
Q99708

Gene ID:
5932

Database links:

Entrez Gene: 5932 Human

Entrez Gene: 225182 Mouse

Entrez Gene: 291787 Rat

Omim: 604124 Human

SwissProt: Q99708 Human

SwissProt: Q80YR6 Mouse

SwissProt: B1WC58 Rat

Unigene: 546282 Human

Unigene: 154275 Mouse

Unigene: 128724 Rat



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