DIAPH1,耳聋常染色体显性遗传相关蛋白1抗体

产品编号HZ-8256R
英文名称DIAPH1
中文名称耳聋常染色体显性遗传相关蛋白1抗体
别 名DIAPH1; FLJ25265; Deafness autosomal dominant 1; deafness, autosomal dominant 1; DFNA1; DIAP1; DIAP1_HUMAN; DIAPH1; diaphanous homolog 1; Diaphanous protein homolog 1; Diaphanous related formin 1; Diaphanous-related formin-1; DRF1; hDIA1; LFHL1; low frequency hearing loss 1; p140DIA; Protein diaphanous homolog 1.
说 明 书0.1ml 0.2ml
研究领域肿瘤 细胞生物 免疫学 神经生物学
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Dog, Horse, Rabbit,
DIAPH1,耳聋常染色体显性遗传相关蛋白1抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量141kDa
细胞定位细胞浆 细胞膜
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human DIAPH1
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
DIAPH1,耳聋常染色体显性遗传相关蛋白1抗体PubMedPubMed
产品介绍background:
Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. 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 (By similarity). Has neurite outgrowth promoting activity (By similarity). 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.

Function:
Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. 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 (By similarity). Has neurite outgrowth promoting activity (By similarity). 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.

DIAPH1,耳聋常染色体显性遗传相关蛋白1抗体Subunit:
Homodimer. Interacts with the GTP-bound form of RHOA. Interacts with RHOC, PFY1, MAPRE1, BAIAP2 and APC. Interacts with SCAI. Interacts with DCAF7. Interacts with NCDN.

Subcellular Location:
Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton.

Tissue Specificity:
Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea.

DISEASE:
Defects in DIAPH1 are the cause of deafness autosomal dominant type 1 (DFNA1) [MIM:124900]. DFNA1 is a form of 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.

Similarity:
Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea.

Database links:
UniProtKB/Swiss-Prot: O60610.2
Entrez Gene: 1729 Human
Entrez Gene: 13367 Mouse
Omim: 602121 Human
SwissProt: O60610 Human
SwissProt: O08808 Mouse
Unigene: 529451 Human
Unigene: 195916 Mouse

DIAPH1,耳聋常染色体显性遗传相关蛋白1抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.