磷酸化脊髓小脑失调症蛋白1抗体
规格：1mg/1ml
英文名： phospho-Ataxin 1(Ser775)
别名： Ataxin 1 (phospho S776);p-Ataxin 1 (phospho S776); ATX1; ATXN1; SCA1; Ataxin 1; Ataxin-1; Ataxin1; Spinocerebellar ataxia type 1; ATX1_HUMAN.
分子量： 87kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthesised phosphopeptide derived from human
交叉反应：Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞核 细胞浆
磷酸化脊髓小脑失调症蛋白1抗体产品介绍：background: Ataxin-1, also designated spinocerebellar ataxia type 1 protein (Sca-1), is differentially expressed and localizes to both the cytoplasm and the nucleus. Mutations in Ataxin-1 are associated with the onset of the autosomal dominant neurodegenerative disorder spinocerebellar ataxia type 1 (SCA-1), which is characterized by progressive neuronal loss in the cerebellum, muscle wasting and ataxia. In Purkinje cells, where SCA-1 is predominantly observed, Ataxin-1 has been shown to directly associate with the Purkinje-enriched leucine-rich acidic nuclear protein (LANP) and the nuclear matrix-associated protein promyelocytic leukemia protein PML. In SCA-1, Ataxin-1 is mutated to encode a polyglutamine protein that forms nuclear aggregates, which interact significantly more strongly with LANP and contribute to the pathogenesis of SCA-1. Function: 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 磷酸化脊髓小脑失调症蛋白1抗体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. Nucleus. 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: Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive磷酸化脊髓小脑失调症蛋白1抗体 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. Similarity: Belongs to the ATXN1 family. Contains 1 AXH domain. Gene ID: 6310 Database links: Entrez Gene: 6310 Human Entrez Gene: 20238 Mouse Entrez Gene: 25049 Rat Omim: 601556 Human SwissProt: P54253 Human SwissProt: P54254 Mouse SwissProt: Q63540 Rat Unigene: 434961 Human Unigene: 342683 Mouse Unigene: 342686 Mouse Unigene: 88438 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
磷酸化脊髓小脑失调症蛋白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 ICC=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.
研究领域：细胞生物 神经生物学 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid