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Neuroscience Neurology process Notch Pathway

人Presenilin 1/PS-1多肽(ab49413)

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Key features and details

  • Purity: > 50% Mass-Spectrometry

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描述

  • 产品名称

    人Presenilin 1/PS-1多肽
    参阅全部 Presenilin 1/PS-1 蛋白酶
  • 纯度

    > 50 % Mass-Spectrometry.
    Purified by Ion Spray Mass Spectrometry.
  • 无动物成分

    No
  • 性质

    Synthetic
    • 种属

      Human
    • 序列

      AQMSEDNHLSNTVRSQNDNR
    • 氨基酸

      14 to 33

技术指标

Our Abpromise guarantee covers the use of ab49413 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 形式

    Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.

常规信息

  • 别名

    • AD3
    • Ad3h
    • FAD
    • Homo Sapiens Clone CC44 Senilin 1
    • Presenilin-1 CTF12
    • Protein S182
    • PS 1
    • PS-1
    • PS1-CTF12
    • PSEN1
    • PSN1_HUMAN
    • PSNL1
    • S182
    see all
  • 功能

    Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis.
  • 组织特异性

    Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes.
  • 疾病相关

    Defects in PSEN1 are a cause of Alzheimer disease type 3 (AD3) [MIM:607822]. AD3 is a familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.
    Defects in PSEN1 are a cause of frontotemporal dementia [MIM:600274].
    Defects in PSEN1 are the cause of cardiomyopathy dilated type 1U (CMD1U) [MIM:613694]. It is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
    Defects in PSEN1 are the cause of acne inversa familial type 3 (ACNIF3) [MIM:613737]. A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.
  • 序列相似性

    Belongs to the peptidase A22A family.
  • 结构域

    The PAL motif is required for normal active site conformation.
  • 翻译后修饰

    Heterogeneous proteolytic processing generates N-terminal (NTF) and C-terminal (CTF) fragments of approximately 35 and 20 kDa, respectively. During apoptosis, the C-terminal fragment (CTF) is further cleaved by caspase-3 to produce the fragment, PS1-CTF12.
    After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC. Phosphorylation on Ser-346 inhibits endoproteolysis.
  • 细胞定位

    Endoplasmic reticulum membrane. Golgi apparatus membrane. Cell surface. Bound to NOTCH1 also at the cell surface. Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane. Also present in azurophil granules of neutrophils.
  • Target information above from: UniProt accession P49768 The UniProt Consortium
    The Universal Protein Resource (UniProt) in 2010
    Nucleic Acids Res. 38:D142-D148 (2010) .

    Information by UniProt

实验方案

To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.

Click here to view the general protocols

数据表及文件

  • Datasheet download

    Download

文献 (0)

发表研究结果有使用 ab49413?请让我们知道,以便我们可以引用本数据表中的参考文章。

ab49413 尚未被引用在任何文献中。

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