Recombinant Human Actin, alpha cardiac muscle 1 (ACTC1)

中文名稱：

Recombinant Human Actin, alpha cardiac muscle 1(ACTC1)
貨號(hào)：

CSB-YP001221HU
規(guī)格：
來(lái)源：

Yeast
其他：

中文名稱：

Recombinant Human Actin, alpha cardiac muscle 1(ACTC1)
貨號(hào)：

CSB-EP001221HU
規(guī)格：
來(lái)源：

E.coli
其他：

中文名稱：

Recombinant Human Actin, alpha cardiac muscle 1(ACTC1)
貨號(hào)：

CSB-EP001221HU-B
規(guī)格：
來(lái)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 Actin, alpha cardiac muscle 1(ACTC1)
貨號(hào)：

CSB-MP001221HU
規(guī)格：
來(lái)源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

ACTC1
Uniprot No.：

P68032
別名：

ACTC; ACTC_HUMAN; ACTC1; Actin alpha cardiac muscle 1; Actin; alpha cardiac muscle 1; Alpha-cardiac actin; ASD5; CMD1R; CMH11; LVNC4
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

Full Length of Mature Protein
表達(dá)區(qū)域：

3-377
氨基酸序列

DDEETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP EEHPTLLTEA PLNPKANREK MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIS KQEYDEAGPS IVHRKCF
蛋白標(biāo)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(chǎn)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(fù)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(chǔ)存條件：

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

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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
基因功能參考文獻(xiàn)：
1. These findings suggest that the familial ostium secundum atrial septal defect (ASDII)may be a result of an ACTC1 3'UTR gain-of-function mutation caused by the introduction of a new miR-139-5p target site. Our results provide the first evidence of a pathogenic mutation in the ACTC1 3'UTR that may be associated with familial isolated ASDII. PMID: 27139165
2. In conclusion, given that ACTC1 upregulation is associated with improved muscle function in certain myopathies, we hypothesize that upregulation of ACTC1 may represent a compensatory response to androgen deprivation therapy-induced muscle loss PMID: 28756295
3. highly penetrant, novel, heterozygous ACTC1I289T mutation is associated with a family with left ventricular noncompaction. PMID: 25201647
4. We reported a case of mirror-type dextrocardia who developed HCM in adulthood exhibiting multiple genetic mutation related to sarcomere proteins PMID: 25863306
5. A heterozygous missense mutation was found (c.251T>C, p.(Met84Thr)) in the ACTC1 gene PMID: 26061005
6. The first step of hypertrophic cardiomyopathy pathogenesis with E99K is increased calcium sensitivity and decreased calcium cooperativity, which result in larger tension during partial activation to cause a diastolic problem. PMID: 25451174
7. In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia. PMID: 23834555
8. In adult Hypertrophic Cardiomyopathy patients, thin-filament gene ACTC1 mutations are associated with increased likelihood of advanced Left Ventricular dysfunction and heart failure compared with thick-filament disease. PMID: 25524337
9. Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy PMID: 24367596
10. Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease. PMID: 24736382
11. Our results provide further evidence supporting a causative role for ACTC1 mutations in ASD. Massively parallel sequencing of the exome allows for the detection of novel rare variants causing CHD without the limitations of a candidate gene approach. PMID: 24461919
12. The authors demonstrate that clathrin promotes clustering of the vaccinia virus actin tail nucleator A36 and host N-WASP, which activates actin nucleation through the Arp2/3 complex. PMID: 22980331
13. ACTC1 mutations Y166C and M305L are associated with hypertrophic cardiomyopathy PMID: 22643837
14. Data show that HMGN2 inhibited the attachment of bacteria, and then decreased bacteria-induced ERK1/2 activation and actin polymerization, which might contribute to bacterial internalization into T24 cells. PMID: 21778192
15. propose that the ACTC E99K mutation causes higher myofibrillar Ca(2+) sensitivity that is responsible for the sudden cardiac death, apical hypertrophy, and subsequent development of heart failure in humans and mice. PMID: 21622575
16. Reduced ACTC1 expression might play a role in the onset of congenital heart defects through induction of cardiomyocyte apoptosis. PMID: 20962418
17. Variations in ACTC1 is associated with refractive errors and myopia. PMID: 20835239
18. E99K inhibits the activation of the thin filament by myosin strong-binding whereas R312H demonstrates enhanced calcium activation. PMID: 19799913
19. Screening of MYH7, cardiac ACTC and TNNI3 genes in dilated cardiomyopathy patients revealed two missense mutations, seven silent mutations, two polymorphisms in MYH7 gene, and two missense mutations and one silent mutation pertaining to TNNI3 gene. PMID: 20086309
20. actin has a function in cytoskeleton in mediating the spatial activation of Ras subfamily GTPases through the selective recruitment of GDP/GTP exchange factors PMID: 14988412
21. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene.(Phe375Cys) PMID: 16967490
22. hypertrophic cardiomyopathy, left ventricular non-compaction (HCM and LVNC) may appear as overlapping entities. The ACTC E101K mutation should be considered in the genetic diagnosis of LVNC, apical HCM, and septal defects. PMID: 17611253
23. The results indicate that ACTC1 mutations or reduced ACTC1 levels may lead to atrial septal defect without signs of cardiomyopathy. PMID: 17947298
24. Functional effects of nemaline myopathy mutations on human skeletal alpha-actin. PMID: 18477565
25. Nine distinct mutations, 7 of them in MYH7, 1 in ACTC, and 1 in TNNT2, were found unrelated adult probands with left ventricular noncompaction and no other congenital heart anomalies PMID: 18506004
26. Gln(137) plays dual roles in actin polymerization, in both the conformational transition of the actin molecule and the mechanism of ATP hydrolysis PMID: 18515362
27. Data show that comparable levels of cardiac alpha-actin in the extraocular muscles of human, pig and sheep to those in the heart. PMID: 18952430
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相關(guān)疾病：

Cardiomyopathy, dilated 1R (CMD1R); Cardiomyopathy, familial hypertrophic 11 (CMH11); Atrial septal defect 5 (ASD5)
亞細(xì)胞定位：

Cytoplasm, cytoskeleton.
蛋白家族：

Actin family
數(shù)據(jù)庫(kù)鏈接：

HGNC: 143

OMIM: 102540

KEGG: hsa:70

STRING: 9606.ENSP00000290378

UniGene: Hs.118127