磷酸化失调症蛋白1抗体，Anti-phospho-ATXN1(Thr236)

英文名称  Anti-phospho-ATXN1(Thr236) 

中文名称  磷酸化失调症蛋白1抗体 

别    名  ATXN1; ATX1; D6S504E; SCA1; Ataxin-1; Spinocerebellar ataxia type 1; ATX1_RAT. 

浓    度  1mg/1ml 

规 格  0.1ml/100μg 

抗体来源  Rabbit  

克隆类型  polyclonal 

交叉反应  Mouse, Rat  

产品类型  一抗  磷酸化抗体   

磷酸化失调症蛋白1抗体研究领域  肿瘤 免疫学 神经生物学 信号转导 细胞凋亡 转录调节因子  

性    状  Lyophilized or Liquid 

免 疫 原  KLH conjugated Synthesised phosphopeptide derived from human ATXN1 around the phosphorylation site of Thr236 

亚    型  IgG 

纯化方法  affinity purified by Protein A 

储 存 液  0.01M PBS, pH 7.4 with 10 mg/ml BSA and 0.1% Sodium azide 

产品应用   WB=1:100-500  ELISA=1:500-1000  IP=1:20-100  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.  

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. 

Important Note  This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

磷酸化失调症蛋白1抗体产品介绍 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1).

Function : Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function.

Subunit : Homooligomer. Interacts with CIC (By similarity). Interacts with ANP32A, PQBP1, UBQLN4, ATXN1L, USP7 and ZNF804A. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1L for RBPJ-binding.

Subcellular Location : Cytoplasm (By similarity). Nucleus. Note=Colocalizes with USP7 in the nucleus.

Tissue Specificity : Widely expressed throughout the body.

Post-translational modifications : Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract. 

Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract.

DISEASE : Spinocerebellar ataxia 1 (SCA1) [MIM:164400]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. Note=The disease is caused by mutations affecting the gene represented in this entry.

Similarity : Belongs to the ATXN1 family. 

Contains 1 AXH domain.

Database links : UniProtKB/Swiss-Prot: Q63540.1