Recombinant Human Protein VAC14 homolog (VAC14), partial

中文名稱：

人VAC14重組蛋白
貨號：

CSB-YP600170HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人VAC14重組蛋白
貨號：

CSB-EP600170HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人VAC14重組蛋白
貨號：

CSB-EP600170HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人VAC14重組蛋白
貨號：

CSB-BP600170HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人VAC14重組蛋白
貨號：

CSB-MP600170HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

VAC14
Uniprot No.：

Q08AM6
別名：

ArPIKfyve; FLJ10305; FLJ36622; FLJ46582; MGC149815; MGC149816; OTTHUMP00000174908; Protein VAC14 homolog; Tax1 (human T cell leukemia virus type I) binding protein 1; Tax1 (human T cell leukemia virus type I) binding protein 2; Tax1 binding protein 2; Tax1-binding protein 2; TAX1BP2; TRX; VAC 14; vac14; Vac14 homolog (S. cerevisiae); Vac14 homolog; VAC14_HUMAN
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
表達區域：

-
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

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.
復溶：

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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
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：

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 ：

Please contact us to get it.

產品評價

靶點詳情

功能：

Scaffold protein component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Pentamerizes into a star-shaped structure and nucleates the assembly of the complex. The pentamer binds a single copy each of PIKFYVE and FIG4 and coordinates both PIKfyve kinase activity and FIG4 phosphatase activity, being required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.
基因功能參考文獻：
1. The association data demonstrated strong correlations between rs8060947 and VAC14 expression and between rs8060947 and S. Typhi invasion. The direction of effects for the different alleles led to the hypothesis that reducing VAC14 expression would increase S. Typhi invasion. PMID: 28827342
2. A genome-wide association study of a prospectively enrolled patient cohort identified an single nucleotide polymorphism in VAC14 that predicts sensitivity to docetaxel-induced peripheral neuropathy. PMID: 27143689
3. Biallelic rare coding variants in VAC14 was identified in a female neonate with Yunis-Varon syndrome. Cultured patient fibroblasts exhibited a YVS-like vacuolation ameliorated by ML-SA1. PMID: 28635952
4. The similar age of onset and neurological decline in the two unrelated children define a recessive disorder resulting from compound heterozygosity for deleterious variants of VAC14. PMID: 27292112
5. Rab7 GAP TBC1D15 with Vac14. PMID: 24578385
6. a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 abundance by attenuating Sac3 proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J. PMID: 20630877
7. the PIKfyve-associated hVac14 protein has a major role in activating PIKfyve and thereby regulating PtdIns(3,5)P(2) synthesis and endomembrane homeostasis in mammalian cells PMID: 15542851
8. describe a novel interaction between the PDZ domain of nitric oxide synthase and Vac14 PMID: 17161399
9. demonstrate a coupling between the machinery for PtdIns(3,5)P2 synthesis and turnover achieved through a physical assembly of PIKfyve, ArPIKfyve, and Sac3. PMID: 17556371
10. The authors data indicate that the PAS complex is organized to provide optimal PIKfyve functionality and is maintained via ArPIKfyve homomeric and heteromeric interactions. PMID: 18950639
11. PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis PMID: 19840946
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相關疾病：

Striatonigral degeneration, childhood-onset (SNDC)
亞細胞定位：

Endosome membrane. Microsome membrane. Note=Mainly associated with membranes of the late endocytic pathway.
蛋白家族：

VAC14 family
組織特異性：

Ubiquitously expressed.
數據庫鏈接：

HGNC: 25507

OMIM: 604632

KEGG: hsa:55697

STRING: 9606.ENSP00000261776

UniGene: Hs.445061