FAN1 Antibody
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货号:CSB-PA015179GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q9Y2M0
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基因名:FAN1
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别名:6030441H18Rik antibody; Coiled coil domain containing protein MTMR15 antibody; DKFZp451H236 antibody; DKFZp686K16147 antibody; FAN1 antibody; FAN1_HUMAN antibody; FANCD2 and FANCI associated nuclease 1 antibody; FANCD2/FANCI associated nuclease 1 antibody; FANCD2/FANCI-associated nuclease 1 antibody; Fanconi associated nuclease 1 antibody; Fanconi-associated nuclease 1 antibody; hFAN1 antibody; KIAA1018 antibody; KMIN antibody; MTMR 15 antibody; MTMR15 antibody; Myotubularin related protein 15 antibody; Myotubularin-related protein 15 antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Human MTMR15
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免疫原种属:Homo sapiens (Human)
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抗体亚型:IgG
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纯化方式:Antigen Affinity purified
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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产品提供形式:Liquid
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应用范围:ELISA,WB
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Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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靶点详情
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功能:Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates. Not involved in DNA double-strand breaks resection. Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL. Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap. Also has endonuclease activity toward 5'-flaps.
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基因功能参考文献:
- hFAN1 homodimerization plays a role in biological processes that involve 5' DNA Flap cleavage. PMID: 29518739
- FAN1 interaction with ubiquitylated PCNA alleviates replication stress and preserves genomic integrity independently of BRCA2 PMID: 29051491
- The structures, function, and proposed mechanisms of FAN1 nuclease are discussed, and the insights into its role in interstrand cross-links repair and in processing of stalled replication forks are provided. [REVIEW] PMID: 28623094
- show that DNA repair genes (fan1 and pms2) significantly modify age at onset in Huntington's Disease and Spinocerebellar Ataxias, suggesting a common pathogenic mechanism, which could operate through the observed somatic expansion of repeats PMID: 27044000
- FAN1 efficiently promoted DNA incision at the proper site of RPA-coated 5'-flapped DNA. Therefore, FAN1 possesses the ability to promote the ICL repair of 5'-flapped DNA covered by RPA. PMID: 25922199
- EXO1 and FEN1 cleaved the substrate at the boundary between the single-stranded 5' flap and the duplex, whereas FAN1 incised it three to four nucleotides in the double-stranded region. PMID: 26221031
- Detected FAN1 mutations in approximately 3% of families who met the Amsterdam criteria for hereditary colorectal cancer and had mismatch repair-proficient cancers with no previously associated mutations. PMID: 26052075
- The crystal structures of human FAN1 in complex with a 5' flap DNA substrate show that two FAN1 molecules form a head-to-tail dimer to locate the lesion, orient the DNA, and unwind a 5' flap for subsequent incision. PMID: 25500724
- In this work, FAN1-DNA crystal structures and biochemical data reveal that human FAN1 cleaves DNA successively at every third nucleotide PMID: 25430771
- Results show that FAN1 utilizes its nuclease activity-in cooperation with the BLM-FANCD2 complex-to promote replication fork restart and simultaneous suppression of new origin firing. PMID: 25135477
- FAN1 encodes a DNA repair enzyme, thus implicating abnormalities in DNA repair in the susceptibility to schizophrenia or autism PMID: 24344280
- FAN1 might be a new mitotic substrate of APC/CCdh1 that plays a key role during mitotic exit. PMID: 22854063
- By exome sequencing, we identified mutations in FAN1 as a cause of karyomegalic interstitial nephritis, a disorder that serves as a model for renal fibrosis. PMID: 22772369
- Our results suggest that FAN1 has a minor role in interstrand crosslink repair compared with true Fanconi anemia genes and exclude FAN1 as a novel FA gene. PMID: 22611161
- Two FAN1 variants do not appear to be causal for breast cancer. PMID: 21858661
- Data show that FAN1 in DT40 cells participates in the processing of damage induced by interstrand cross-linking-generating agents also independently of the classical FA pathway. PMID: 21115814
- Data show that FAN1 is a nuclear protein and forms DNA-damage-induced foci, which appear to be at stalled replication forks as denoted by RPA colocalization. PMID: 20935496
- study characterizes FANI which promotes DNA interstrand cross-linking repair in a manner strictly dependent on its ability to accumulate at or near sites of DNA damage and that relies on mono-ubiquitylation of the FANCI-FANCD2 complex PMID: 20671156
- Study describes how a highly conserved protein, KIAA1018/MTMR15/FAN1, that interacts with, and is recruited to sites of DNA damage by, the monoubiquitinated form of FANCD2. PMID: 20603015
- KIAA1018 is a 5'-->3' exonuclease and a structure-specific endonuclease that preferentially incises 5' flaps; like cells from FA patients, human cells depleted of KIAA1018 are sensitized to ICL-inducing agents and display chromosomal instability. PMID: 20603016
- FAN1 colocalizes at sites of DNA damage with the ID complex in a manner dependent on FAN1's ubiquitin-binding domain (UBZ), the FANCI-FAND2 (ID) complex, and monoubiquitination of FANCD2. PMID: 20603073
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相关疾病:Interstitial nephritis, karyomegalic (KMIN)
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亚细胞定位:Nucleus.
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蛋白家族:FAN1 family
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数据库链接:
HGNC: 29170
OMIM: 613534
KEGG: hsa:22909
STRING: 9606.ENSP00000354497
UniGene: Hs.584863
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