Recombinant Human Vacuolar protein sorting-associated protein 13A (VPS13A), partial

中文名稱：

人VPS13A重組蛋白
貨號：

CSB-EP850425HU
規(guī)格：

￥1344
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

VPS13A
Uniprot No.：

Q96RL7
別名：

VPS13A; CHAC; KIAA0986; Vacuolar protein sorting-associated protein 13A; Chorea-acanthocytosis protein; Chorein
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

28.5kDa
表達(dá)區(qū)域：

3037-3140aa
氨基酸序列

RPPRFFNEDGVIRPYRLRDGTGNQMLQVMENGRFAKYKYFTHVMINKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFDEFTKEPFIVHGRRLRIEAKERVKSVF
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標(biāo)簽：

N-terminal 6xHis-SUMO-tagged
產(chǎn)品提供形式：

Liquid or 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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

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.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產(chǎn)品評價

靶點詳情

功能：

Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria. Negatively regulates lipid droplet size and motility. Required for efficient lysosomal protein degradation.
基因功能參考文獻(xiàn)：
1. Expression of cancer-specific glycan epitopes represents an excellent opportunity for diagnostics and potentially specific detection of tumors. Here, we report four proteins (LIFR, CE350, VP13A, HPT) found in sera from pancreatic cancer patients carrying aberrant glycan structures as compared to those of controls. PMID: 28244758
2. These results suggest that PI3P regulates the functioning of Vps13, both in protein trafficking and actin cytoskeleton organization. Attenuation of PI3P-binding ability in the mutant hVps13A protein may be one of the reasons for its mislocalization and disrupted function in cells of patients suffering from chorea-acanthocytosis . PMID: 28334785
3. Chorein is a stimulator of Orai1 expression and thus of store operated Ca2+ entry. PMID: 27960157
4. Patients with chorea-acanthocytosis carrying a VPS13A mutation present with focal, treatment-resistant seizures. PMID: 26813249
5. Defective chorein is accompanied by significant structural disorganization of all cytoskeletal structures. PMID: 26316086
6. VPS13A-depleted cells showed accumulation of autophagic markers and impaired autophagic flux PMID: 25996471
7. Chorein is expressed in various cancer cells. In cells with high chorein expression levels chorein silencing promotes apoptotic cell death, an effect paralleled by down-regulation of PI-3K activity and BCL-2/Bax expression ratio. PMID: 25871399
8. Discovery of new mutations may clarify the pathogenic roles of chorein in chorea-acanthocytosis as well as in the retina PMID: 23746940
9. chorein interacts with beta-adducin and beta-actin. PMID: 24129186
10. Data indicate functions of chorein, i.e., regulation of secretion and aggregation of blood platelets. PMID: 23568775
11. This study demonistrated that neuroacanthocytosis disorders has heterozygotes for mutations in the VPS13A gene. PMID: 22038564
12. Results reveal chorein as a novel powerful regulator of cytoskeletal architecture and cell survival, thus explaining erythrocyte misshape and possibly neurodegeneration in chorea-acanthocytosis. PMID: 22227296
13. these results suggest that chorein is involved in exocytosis of dense-core vesicles. PMID: 22366033
14. Frameshift mutations of VPS genes and losses of expression of Vps13A and Vps35 proteins are common in gastric cancers and colorectal cancers with high microsatellite instability. PMID: 21733561
15. identified 36 pathogenic mutations of VPS13A, 20 of which were previously unreported, including two novel copy number variations PMID: 21598378
16. A mutation was identified in the VPS13A gene, responsible for autosomal recessive chorea-acanthocytosis. PMID: 21987550
17. Founder mutation and single-nucleotid epolymorphisms in chorea-acanthocytosis in French-Canadians. PMID: 15918062
18. The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype. PMID: 17673232
19. A Mexican family, two sister, after mutation screening of the VPS13A gene revealed homozygosity for the frameshift mutation c.3556_3557dupAC in exon 33. PMID: 17998451
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相關(guān)疾病：

Choreoacanthocytosis (CHAC)
亞細(xì)胞定位：

Mitochondrion outer membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Lysosome membrane; Peripheral membrane protein. Lipid droplet. Golgi apparatus. Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle.
蛋白家族：

VPS13 family
組織特異性：

Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.
數(shù)據(jù)庫鏈接：

HGNC: 1908

OMIM: 200150

KEGG: hsa:23230

STRING: 9606.ENSP00000353422

UniGene: Hs.459790