Recombinant Human Protein diaphanous homolog 1 (DIAPH1), partial

Code CSB-YP006890HU
MSDS
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Source Yeast
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Code CSB-EP006890HU
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Source E.coli
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Code CSB-EP006890HU-B
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Source E.coli
Conjugate 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.
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Code CSB-BP006890HU
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Source Baculovirus
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Code CSB-MP006890HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
Uniprot No.
Alternative Names
DIAPH1; deafness; autosomal dominant 1; DFNA1; DIA1; DIAP1; DIAP1_HUMAN; DIAPH1; Diaphanous homolog 1 (Drosophila); diaphanous homolog 1; Diaphanous related formin 1; Diaphanous-related formin-1; DRF1; FLJ25265; hDIA1; LFHL1; low frequency hearing loss 1; p140DIA; Protein diaphanous homolog 1
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
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.
Form
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 before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and 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
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.
Notes
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.

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Target Background

Function
Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration. Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane. In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Plays a role in brain development. 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.
Gene References into Functions
  1. Diaph1 is highly expressed in glioma, plays a significant role in glioma cell migration, and can influence the expression and activity of MMP2 and MMP9. PMID: 29035824
  2. The aim of this study was to investigate the role of DIAPH1 in the physiological response to experimental myocardial I/R in mice. After subjecting wild-type mice to experimental I/R, myocardial DIAPH1 expression was increased, an effect that was echoed following hypoxia/reoxygenation (H/R) in H9C2 and AC16 cells PMID: 29239839
  3. Data show that diaphanous related formin 1 protein (Dia1) and diaphanous related formin 2 protein (Dia2) facilitated HIV-1-induced microtubule (MT) stabilization and the intracellular motility of virus particles. PMID: 28760985
  4. Down-regulation of mDia1 by infection with an adenovirus encoding siRNA or blockade of RAGE-mDia1 binding by transfection with RAGE mutant plasmids into HUVECs abolished these AGE-induced effects. PMID: 29490301
  5. DIAPH1 mutation is associated with Progressive macrothrombocytopenia and hearing loss. PMID: 28815995
  6. It is therefore noteworthy that we found DIAPH1 expression also in spiral ganglion neurons and in the barrier between the myelinating glia of the peripheral nervous system and oligodendrocytes that form the myelinating glia of the central nervous system (CNS). PMID: 27808407
  7. mDia1 was recruited to the zonula adherens (ZA) of established Caco-2 monolayers in response to E-cadherin and RhoA. PMID: 28329679
  8. Actin dynamics and formins control DNA replication by multiple direct and indirect mechanisms. PMID: 28982779
  9. DIAPH1 interaction with the RAGE cytoplasmic domain. [review] PMID: 27967251
  10. Ligand-induced association of RAGE homodimers on the cell surface increases the molecular dimension of the receptor, recruiting DIAPH1 and activating signaling pathways. PMID: 27524199
  11. The authors describe a novel patient-derived DIAPH1 mutation (c.3610C>T) in two unrelated families, which results in early termination prior to a basic amino acid motif (RRKR(1204-1207)) at the DAD C-terminus. The mutant DIA1(R1204X) disrupted the autoinhibitory DID-DAD interaction and was constitutively active. PMID: 27707755
  12. The description of a novel disorder of platelet formation and hearing loss extends the repertoire of DIAPH1-related disease, and provides new insight into the autoregulation of DIAPH1 activity. PMID: 26912466
  13. Studies indicate that diaphanous related formin 1 (DIAPH1) is essentially involved in microtubules (MTs)-dependent early adhesion of colon cancer cells. PMID: 27911711
  14. A 51-year-old patient in a Korean family with ADNSHL was examined by pure-tone audiometry, and genetic analysis of DIAPH1 was performed. A novel variant, p.I530S (c.1589T > G), was identified in the DIAPH1 gene, and the mutation was located in the highly conserved coiled-coil domain of the DIA1 protein. PMID: 28003573
  15. mDia1 is an important regulator of breast cancer cell invasion and that its effects may be mediated by MMP-2 activity. PMID: 27177153
  16. Findings suggest that regulation of cellular trafficking and microtubule-mediated localization of MT1-MMP by mDia1 is likely important in breast cancer invasion through the expression of cancer stem cell genes. PMID: 26893363
  17. Loss-of-function variants in DIAPH1 is associated with syndromic microcephaly, blindness, and early onset seizures. PMID: 26463574
  18. functional complementation experiments and optogenetics to show that mDia1 cooperates with the Arp2/3 complex in initiating lamellipodia and ruffles. PMID: 26349808
  19. Capping protein and dia1 functionally coregulate filament barbed-end assembly. PMID: 26564775
  20. mDia1 displaced from the barbed end by CapZ Actin Capping Protein can randomly slide along the actin filament and later return. PMID: 26566078
  21. Data indicate that diaphanous homolog 1 (Drosophila) protein (DIAPH1) stabilizes microtubules and reduces microtubule dynamics. PMID: 26124177
  22. The Rho-mDia1 signaling pathway is involved in the cytoskeletal rearrangement of human periodontal ligament cells induced by cyclic strain. PMID: 26201082
  23. Patients with a homozygous nonsense DIAPH1 alteration (p.Gln778*) have MCP as well as reduced height and weight. PMID: 24781755
  24. the RhoA-regulated formin Dia1 is involved in entosis downstream of LPAR2 PMID: 24950964
  25. DIAPH1 has a critical role in generating F-actin structures and assisting the microtubule stabilization underlying proplatelet formation and platelet production PMID: 25298036
  26. Dia1, Dia2, and Dia3 are involved in ErbB2-dependent capture of microtubules at the cell leading edge and ErbB2-driven guided migration. PMID: 24403606
  27. Mechanistically, mDia1 deficiency led to a downregulation of membrane-associated genes and a specific upregulation of CD14 messenger RNA in granulocytes, but not in other lineages. PMID: 24891322
  28. The results revealed that treatment with siRNA-mDRF1 significantly inhibited tumor growth and led to a decrease in the weight of the transplanted tumor. In conclusion, our data demonstrate that mDRF1 is highly expressed in human glioma tissue. PMID: 24317603
  29. Depletion of DIAPH1 reduced metastasis 60-fold. PMID: 24105619
  30. Recruitment of Syx to the cell membrane, the selective activation of Dia1 signaling, coupled with the suppression of ROCK and actin reorganization, plays a key role in establishing cell polarity during directed cell migration. PMID: 24126053
  31. findings show that DIAPH1 interacts with multiple proteins in H295R human adrenocortical cells and that cAMP signaling modulates the interaction of a subset of proteins with DIAPH1 PMID: 23325789
  32. Liprin-alpha negatively regulates the activity of mDia in the cell by displacing it from the plasma membrane through binding to the N-terminal Dia-inhibitory domain (DID) and dimerization domain (DD) of mDia PMID: 22266902
  33. mDia1 knockdown results in Cav1/caveolae clustering and defective inward trafficking upon loss of cell adhesion. PMID: 22454521
  34. mDia1 and WAVE2 are important Src homology 3 domain partners of IRSp53 in forming filopodia. PMID: 22179776
  35. a novel mechanism through which an extracellular signal initiated by RAGE ligands regulates RAGE signaling in a manner requiring mDia1. PMID: 22194616
  36. mDia1 regulates Golgi architecture and dynamics in a Rho-dependent manner PMID: 21680709
  37. PI3-kinase regulates the thrombin-induced actin cytoskeleton reconstitution in platelets by the RhoA-mDia1 pathway. PMID: 20030946
  38. Data show that expression of a dominant-negative RhoA mutant or silencing DIAPH1 impaired mitochondrial trafficking and cortisol biosynthesis. PMID: 20591975
  39. Fli-I promotes the GTP-bound active Rho-mediated relief of the autoinhibition of Daam1 and mDia1. Thus, Fli-I is a novel positive regulator of Rho-induced linear actin assembly mediated by DRFs. PMID: 20223827
  40. mDia plays an important role in the development of force-induced transcriptional activation of SMA and myofibroblast differentiation PMID: 20071339
  41. loss of hDia1 did not disrupt actin assembly at the lytic synapse. Instead, loss of hDia1 led to perturbations in the microtubule cytoskeleton, including the targeting of microtubules to the lytic synapse PMID: 19913427
  42. ROCK and Dia have opposing effects on adherens junctions downstream of Rho. PMID: 11992112
  43. mDia influences Pax6-induced transcriptional activity and axonal pathfinding in a way opposite from ROCK (Rho kinase) and that it may act via Pax6 to modulate early neuronal development PMID: 12324464
  44. mDia is present in very small amounts in freshly isolated peripheral blood lymphocytes, is induced in vivo and in vitro during T cell activation, and is involved in regulating the F-actin/G-actin balance critical for T cell motility. PMID: 12847276
  45. RhoA, mDia, and ROCK have roles in cell shape-dependent control of the Skp2-p27kip1 pathway and the G1/S transition PMID: 15096506
  46. Results show that mDia1 and PKD2 interact in native and in transfected cells, and binding is mediated by the cytoplasmic C terminus of PKD2 binding to the mDia1 N terminus. PMID: 15123714
  47. findings show that in melanomas invasiveness can be regulated epigenetically by the microphthalmia-associated transcription factor, Mitf, by regulation of the DIAPH1 gene; Mitf, via regulation of Dia1, can both inhibit invasiveness & promote proliferation PMID: 17182868
  48. Increases in GTP-bound RHOA and DIAPH1 expression may contribute to the increase in uterine activity in idiopathic preterm labor. PMID: 17301291
  49. Data suggest that Dia1 localizes to and controls E-cadherin-mediated junctions in a RhoA-dependent manner. PMID: 17940061
  50. Angiopoietin 1 promotes the activation of mDia through RhoA, resulting in the association of mDia with Src. [mD1a] PMID: 18194650

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Involvement in disease
Deafness, autosomal dominant, 1 (DFNA1); Seizures, cortical blindness, and microcephaly syndrome (SCBMS)
Subcellular Location
Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Nucleus.
Protein Families
Formin homology family, Diaphanous subfamily
Tissue Specificity
Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea. Expressed in platelets.
Database Links

HGNC: 2876

OMIM: 124900

KEGG: hsa:1729

STRING: 9606.ENSP00000381565

UniGene: Hs.529451

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