Recombinant Human BRCA1-associated ATM activator 1 (BRAT1), partial

中文名稱：

Recombinant Human BRCA1-associated ATM activator 1(BRAT1) ,partial
貨號：

CSB-YP757659HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human BRCA1-associated ATM activator 1(BRAT1) ,partial
貨號：

CSB-EP757659HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human BRCA1-associated ATM activator 1(BRAT1) ,partial
貨號：

CSB-EP757659HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

Recombinant Human BRCA1-associated ATM activator 1(BRAT1) ,partial
貨號：

CSB-BP757659HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human BRCA1-associated ATM activator 1(BRAT1) ,partial
貨號：

CSB-MP757659HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

BRAT1
Uniprot No.：

Q6PJG6
別名：

BAAT 1; BAAT1; BRAT 1; brat1; BRAT1_HUMAN; BRCA1-associated ATM activator 1; BRCA1-associated protein required for ATM activation protein 1; BRCA1-associated protein required for ATM activation-1; C7orf27; chromosome 7 open reading frame 27 ; HEAT repeat containing protein C7orf27; MGC22916; RMFSL
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

功能：

Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress. Plays a role in regulating mitochondrial function and cell proliferation. Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors.
基因功能參考文獻：
1. Biallelic sequence variants in BRAT1 have been reported to cause a variety of ocular and systemic manifestations, but to our knowledge, this is the first report of inner retinal dysfunction manifest as selective loss of full-field ERG scotopic and photopic b-wave amplitudes. PMID: 28635423
2. compared with RMFSL, BRAT1 mutations can result in both moderately severe presentations evident by later-onset epilepsy and survival past infancy, as well as milder presentations that include intellectual disability, ataxia/dyspraxia, and cerebellar atrophy. PMID: 27282546
3. our data expand the clinical symptoms and demonstrate variability in the natural clinical course of BRAT1-associated phenotypes. Patients with early onset seizures, postnatal microcephaly, feeding problems, and muscular hypertonia or contractures should hence be screened for BRAT1 mutations. PMID: 27282648
4. we report two affected siblings with compound heterozygous truncating mutations in BRAT1 and intra-familial phenotypic heterogeneity, with a less severe disease course in the female sibling. This phenotypic variability should be taken into account when treating patients with BRAT1-associated neurodegenerative disease. PMID: 27480663
5. We conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy. PMID: 26535877
6. Our results further support that mutations of BRAT1 could lead to epileptic encephalopathy. PMID: 25319849
7. Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus. PMID: 25631046
8. Findings suggest novel roles of BRAT1 in cell proliferation and mitochondrial functions. PMID: 25070371
9. Data on crystal structure of BRCA1 binding with phosphopeptides suggest that C-terminal domain of BRCA1 interacts with BAAT1 and ATRIP with preferences for specific side chains; in BAAT1, phospho-Ser269 and Phe272 are the main interacting residues. PMID: 24073851
10. Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS. PMID: 22279524
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相關疾病：

Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)
亞細胞定位：

Nucleus. Cytoplasm.
組織特異性：

Ubiquitously expressed.
數據庫鏈接：

HGNC: 21701

OMIM: 614498

KEGG: hsa:221927

STRING: 9606.ENSP00000339637

UniGene: Hs.520623