Product Details

Purity

Greater than 95% as determined by SDS-PAGE.
Greater than 95% as determined by SEC-HPLC.

Target Names

ACTC1

Uniprot No.

P68032

Research Area

Cardiovascular

Species

Homo sapiens (Human)

Source

Baculovirus

Expression Region

3-377aa

Target Protein Sequence

DDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.

Mol. Weight

47.4 kDa

Protein Length

Partial

Tag Info

C-terminal 6xHis-tagged

Form

Liquid or 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.

Buffer

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.

Reconstitution

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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

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

Shelf Life

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.

Lead Time

3-7 business days

Notes

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

Datasheet & COA

Please contact us to get it.

Description

The recombinant Human ACTC1 was expressed with the amino acid range of 3-377. This ACTC1 protein is expected to have a theoretical molecular weight of 47.4 kDa. This ACTC1 protein is produced using baculovirus expression system. The ACTC1 coding gene included the C-terminal 6xHis tag, which simplifies the detection and purification processes of the recombinant ACTC1 protein in following stages of expression and purification.

The human actin, alpha cardiac muscle 1 (ACTC1) is a cardiac muscle-specific isoform of actin, which is a key component of the cytoskeleton and essential for muscle contraction. ACTC1 is predominantly expressed in the heart and contributes to the structural and functional integrity of cardiac muscle fibers. As a major constituent of sarcomeres, ACTC1 interacts with myosin to generate the contractile force required for cardiac muscle function. Mutations in ACTC1 are associated with various cardiac disorders, including hypertrophic and dilated cardiomyopathies. Understanding the role of ACTC1 in cardiac physiology and pathology is crucial for elucidating the molecular mechanisms underlying heart-related conditions and developing targeted therapeutic interventions.

Target Background

Function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Gene References into Functions

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
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
highly penetrant, novel, heterozygous ACTC1I289T mutation is associated with a family with left ventricular noncompaction. PMID: 25201647
We reported a case of mirror-type dextrocardia who developed HCM in adulthood exhibiting multiple genetic mutation related to sarcomere proteins PMID: 25863306
A heterozygous missense mutation was found (c.251T>C, p.(Met84Thr)) in the ACTC1 gene PMID: 26061005
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
In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia. PMID: 23834555
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
Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy PMID: 24367596
Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease. PMID: 24736382
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
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
ACTC1 mutations Y166C and M305L are associated with hypertrophic cardiomyopathy PMID: 22643837
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
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
Reduced ACTC1 expression might play a role in the onset of congenital heart defects through induction of cardiomyocyte apoptosis. PMID: 20962418
Variations in ACTC1 is associated with refractive errors and myopia. PMID: 20835239
E99K inhibits the activation of the thin filament by myosin strong-binding whereas R312H demonstrates enhanced calcium activation. PMID: 19799913
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
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
We present two cases, a father and son, with a novel missense mutation in the alpha actin gene.(Phe375Cys) PMID: 16967490
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
The results indicate that ACTC1 mutations or reduced ACTC1 levels may lead to atrial septal defect without signs of cardiomyopathy. PMID: 17947298
Functional effects of nemaline myopathy mutations on human skeletal alpha-actin. PMID: 18477565
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
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
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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Involvement in disease

Cardiomyopathy, dilated 1R (CMD1R); Cardiomyopathy, familial hypertrophic 11 (CMH11); Atrial septal defect 5 (ASD5)

Subcellular Location

Cytoplasm, cytoskeleton.

Protein Families

Actin family

Database Links

HGNC: 143

OMIM: 102540

KEGG: hsa:70

STRING: 9606.ENSP00000290378

UniGene: Hs.118127

Code	CSB-BP001221HU
Abbreviation	Recombinant Human ACTC1 protein, partial
MSDS	MSDS Datasheet
Size	$528
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Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel. The purity of ACTC1 was greater than 95% as determined by SEC-HPLC
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Recombinant Human Actin, alpha cardiac muscle 1 (ACTC1), partial

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