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

Code CSB-EP850425HU
Size $224
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 90% as determined by SDS-PAGE.
Target Names
VPS13A
Uniprot No.
Research Area
Neuroscience
Alternative Names
VPS13A; CHAC; KIAA0986; Vacuolar protein sorting-associated protein 13A; Chorea-acanthocytosis protein; Chorein
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
3037-3140aa
Target Protein Sequence
RPPRFFNEDGVIRPYRLRDGTGNQMLQVMENGRFAKYKYFTHVMINKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFDEFTKEPFIVHGRRLRIEAKERVKSVF
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
28.5kDa
Protein Length
Partial
Tag Info
N-terminal 6xHis-SUMO-tagged
Form
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.
Buffer
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, pH 8.0.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes
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.

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Target Background

Function
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.
Gene References into Functions
  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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Involvement in disease
Choreoacanthocytosis (CHAC)
Subcellular Location
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.
Protein Families
VPS13 family
Tissue Specificity
Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.
Database Links

HGNC: 1908

OMIM: 200150

KEGG: hsa:23230

STRING: 9606.ENSP00000353422

UniGene: Hs.459790

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