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Mouse Anti-DIAPH1 (AA 41-153) Recombinant Antibody (CBFYM-1070) (CBMAB-M1223-FY)

This product is mouse antibody that recognizes DIAPH1. The antibody CBFYM-1070 can be used for immunoassay techniques such as: WB, IF.
See all DIAPH1 antibodies

Summary

Host Animal
Mouse
Specificity
Mouse, Dog, Human, Rat
Clone
CBFYM-1070
Antibody Isotype
IgG1
Application
WB, IF

Basic Information

Immunogen
Mouse p140mDia aa. 41-153
Specificity
Mouse, Dog, Human, Rat
Antibody Isotype
IgG1
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

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

Format
Liquid
Concentration
0.25 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 41-153

Target

Full Name
diaphanous homolog 1 (Drosophila)
Introduction
This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Entrez Gene ID
Human1729
Mouse13367
Rat307483
Dog100684883
UniProt ID
HumanO60610
MouseO08808
RatF1M775
DogF1PZE5
Alternative Names
Diaphanous Related Formin 1; DRF1; Diaphanous (Drosophila, Homolog) 1; Diaphanous Homolog 1 (Drosophila); Protein Diaphanous Homolog 1; Diaphanous-Related Formin-1; LFHL1
Function
Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity).

Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity).

Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity).

DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity).

Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity).

Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity).

In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466).

The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987).

It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987).

In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987).

Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987).

Plays a role in brain development (PubMed:24781755).

Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity).
Biological Process
Actin cytoskeleton organization Source: UniProtKB
Actin filament polymerization Source: UniProtKB
Cellular response to histamine Source: BHF-UCL
Cytoskeleton organization Source: UniProtKB
Positive regulation of cell migration Source: Ensembl
Protein localization to microtubule Source: BHF-UCL
Regulation of cell shape Source: UniProtKB
Regulation of cytoskeleton organization Source: UniProtKB
Regulation of microtubule-based process Source: UniProtKB
Regulation of release of sequestered calcium ion into cytosol Source: BHF-UCL
Sensory perception of sound Source: ProtInc
Cellular Location
Nucleus; Cytoskeleton; Centrosome; Spindle; Cell membrane; Ruffle membrane; Cytoplasm. Membrane ruffles, especially at the tip of ruffles, of motile cells.
Involvement in disease
Deafness, autosomal dominant 1, with or without thrombocytopenia (DFNA1):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies.
Seizures, cortical blindness, and microcephaly syndrome (SCBMS):
A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness.
PTM
Phosphorylation at Thr-768 is stimulated by cAMP and regulates stability, complex formation and mitochondrial movement.

Rabbolini, D., Liang, H. P. H., Morel-Kopp, M. C., Connor, D., Whittaker, S., Dunkley, S., ... & Chen, V. M. (2022). Building platelet phenotypes: diaphanous-related formin 1 (DIAPH1)-related disorder. Platelets, 33(3), 432-442.

Li, X., Liao, M., Shao, J., Li, W., Shi, L., Wang, D., ... & Long, M. (2022). Plasma Diaphanous Related Formin 1 Levels Are Associated with Altered Glucose Metabolism and Insulin Resistance in Patients with Polycystic Ovary Syndrome: A Case Control Study. Mediators of inflammation, 2022.

Miao, S., Schäfer, P., Nojszewski, J., Meyer, F., & Windhorst, S. (2021). DIAPH1 regulates chromosomal instability of cancer cells by controlling microtubule dynamics. European Journal of Cell Biology, 100(3), 151156.

Chen, A., Arora, P. D., Lai, C. C., Copeland, J. W., Moraes, T. F., McCulloch, C. A., ... & Wilde, A. (2020). The scaffold-protein IQGAP1 enhances and spatially restricts the actin-nucleating activity of Diaphanous-related formin 1 (DIAPH1). Journal of Biological Chemistry, 295(10), 3134-3147.

Klein, O., Krier-Burris, R. A., Lazki-Hagenbach, P., Gorzalczany, Y., Mei, Y., Ji, P., ... & Sagi-Eisenberg, R. (2019). Mammalian diaphanous-related formin 1 (mDia1) coordinates mast cell migration and secretion through its actin-nucleating activity. Journal of Allergy and Clinical Immunology, 144(4), 1074-1090.

Yang, J., Zhou, L., Zhang, Y., Zheng, J., Zhou, J., Wei, Z., & Zou, J. (2019). DIAPH1 is upregulated and inhibits cell apoptosis through ATR/p53/caspase-3 signaling pathway in laryngeal squamous cell carcinoma. Disease Markers, 2019.

Mizuno, H., Tanaka, K., Yamashiro, S., Narita, A., & Watanabe, N. (2018). Helical rotation of the diaphanous-related formin mDia1 generates actin filaments resistant to cofilin. Proceedings of the National Academy of Sciences, 115(22), E5000-E5007.

De Conto, F., Fazzi, A., Razin, S. V., Arcangeletti, M. C., Medici, M. C., Belletti, S., ... & Calderaro, A. (2018). Mammalian Diaphanous-related formin-1 restricts early phases of influenza A/NWS/33 virus (H1N1) infection in LLC-MK2 cells by affecting cytoskeleton dynamics. Molecular and Cellular Biochemistry, 437(1), 185-201.

O'Shea, K. M., Ananthakrishnan, R., Li, Q., Quadri, N., Thiagarajan, D., Sreejit, G., ... & Ramasamy, R. (2017). The formin, DIAPH1, is a key modulator of myocardial ischemia/reperfusion injury. EBioMedicine, 26, 165-174.

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

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