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Rabbit Anti-ACTN1 Recombinant Antibody (V2-179634) (CBMAB-A0981-YC)

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Published Data

Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat, Monkey, Zebrafish
Clone
V2-179634
Antibody Isotype
IgG
Application
WB, IF

Basic Information

Immunogen
Synthetic peptide corresponding to residues surrounding Phe316 of human α-actinin-1 protein.
Specificity
Human, Mouse, Rat, Monkey, Zebrafish
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
ApplicationNote
IF(ICC)1:100
WB1:1,000

Formulations & Storage [For reference only, actual COA shall prevail!]

Buffer
HEPES, pH 7.5, 100 µg/ml BSA, 50% glycerol
Preservative
0.02% sodium azide
Concentration
Batch dependent
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Actinin Alpha 1
Introduction
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types
Entrez Gene ID
Human83
Mouse109711
Rat81634
Monkey711994
Zebrafish560400
UniProt ID
HumanP12814
MouseQ7TPR4
RatQ9Z1P2
MonkeyH9YUP4
ZebrafishD1GJ54
Alternative Names
Actinin Alpha 1; Alpha-Actinin Cytoskeletal Isoform; F-Actin Cross-Linking Protein; Non-Muscle Alpha-Actinin-1; Actinin 1 Smooth Muscle; Alpha-Actinin-1; BDPLT15;
Function
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
Biological Process
Actin filament bundle assembly
Actin filament network formation
Actin filament organization
Focal adhesion assembly
Negative regulation of cellular component movement
Platelet degranulation
Platelet formation
Platelet morphogenesis
Regulation of apoptotic process
Cellular Location
Cytoskeleton; Cell membrane; Z line; Cell junction. Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures.
Involvement in disease
Bleeding disorder, platelet-type 15 (BDPLT15): An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities.
More Infomation

O'Sullivan, L. R., Ajaykumar, A. P., Dembicka, K. M., Murphy, A., Grennan, E. P., & Young, P. W. (2020). Investigation of calmodulin‐like and rod domain mutations suggests common molecular mechanism for α‐actinin‐1‐linked congenital macrothrombocytopenia. FEBS letters, 594(1), 161-174.

Xie, G. F., Zhao, L. D., Chen, Q., Tang, D. X., Chen, Q. Y., Lu, H. F., ... & Chen, Z. (2020). High ACTN1 is associated with poor prognosis, and ACTN1 silencing suppresses cell proliferation and metastasis in Oral squamous cell carcinoma. Drug Design, Development and Therapy, 14, 1717.

Cetinkaya, A., Berge, B., Sen-Hild, B., Troidl, K., Gajawada, P., Kubin, N., ... & Richter, M. (2020). Radixin relocalization and nonmuscle α-Actinin expression are features of remodeling cardiomyocytes in adult patients with dilated cardiomyopathy. Disease Markers, 2020.

Blondelle, J., Tallapaka, K., Seto, J. T., Ghassemian, M., Clark, M., Laitila, J. M., ... & Lange, S. (2019). Cullin-3–dependent deregulation of ACTN1 represents a pathogenic mechanism in nemaline myopathy. JCI insight, 4(10).

Eich, F., Nonis, D. F., Sen, N. E., Nowock, J., & Auburger, G. (2019). Ataxin-2 Binds Alpha-Actinin-1.

Yang, X., Pang, Y., Zhang, J., Shi, J., Zhang, X., Zhang, G., ... & Fu, L. (2019). High expression levels of ACTN1 and ACTN3 indicate unfavorable prognosis in acute myeloid leukemia. Journal of Cancer, 10(18), 4286.

Faleschini, M., Melazzini, F., Marconi, C., Giangregorio, T., Pippucci, T., Cigalini, E., ... & Noris, P. (2018). ACTN 1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. British journal of haematology, 183(2), 276-288.

Kanhai, D., Mulder, R., Ploos van Amstel, H. K., Schutgens, R., Lukens, M., & Tamminga, R. Y. (2018). Familial macrothrombocytopenia due to a double mutation in cis in the alpha‐actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura. Pediatric blood & cancer, 65(12), e27418.

Milanini, J., Fayad, R., Partisani, M., Lecine, P., Borg, J. P., Franco, M., & Luton, F. (2018). EFA6 proteins regulate lumen formation through α-actinin 1. Journal of cell science, 131(3), jcs209361.

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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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