Recombinant Human Polyphosphoinositide phosphatase (FIG4), partial

中文名稱：

人FIG4重組蛋白
貨號：

CSB-YP838782HU
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人FIG4重組蛋白
貨號：

CSB-EP838782HU
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人FIG4重組蛋白
貨號：

CSB-EP838782HU-B
規(guī)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FIG4重組蛋白
貨號：

CSB-BP838782HU
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人FIG4重組蛋白
貨號：

CSB-MP838782HU
規(guī)格：
來源：

Mammalian cell
其他：

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

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

FIG4
Uniprot No.：

Q92562
別名：

5-bisphosphate 5-phosphatase; ALS 11; ALS11; BTOP; CMT4J; dJ249I4.; Fig4; FIG4 homolog (S cerevisiae); FIG4 homolog; FIG4 homolog SAC domain containing lipid phosphatase; FIG4 homolog SAC1 lipid phosphatase domain containing; FIG4 homolog; SAC1 lipid phosphatase domain containing (S cerevisiae; FIG4 phosphoinositide 5 phosphatase; FIG4_HUMAN; KIAA0274; phosphatidylinositol 3 5 bisphosphate 5 phosphatase; Phosphatidylinositol 3; Phosphatidylinositol 3,5 bisphosphate 5 phosphatase; Polyphosphoinositide phosphatase; RP1-249I4.1; SAC 3; Sac domain containing inositol phosphatase 3; SAC domain containing protein 3; SAC domain-containing protein 3; SAC3; YVS
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標(biāo)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(chǎn)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(fù)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(chǔ)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：

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(xiàng)：

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(chǎn)品評價(jià)

靶點(diǎn)詳情

功能：

Dual specificity phosphatase 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). Catalyzes the dephosphorylation of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) to form phosphatidylinositol 3-phosphate. Has serine-protein phosphatase activity acting on PIKfyve to stimulate its lipid kinase activity, its catalytically activity being required for maximal PI(3,5)P2 production. In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide and although displaying preferences for PtdIns(3,5)P2, it is capable of hydrolyzing PtdIns(3,4,5)P3 and PtdIns(4,5)P2, at least in vitro.
基因功能參考文獻(xiàn)：
1. A rare heterozygous FIG4 frameshift variant was identified in a German family. Sequence analysis of FIG4 in 200 ALS cases revealed five rare heterozygous FIG4 missense variants predicted to be deleterious. FIG4 is an ALS risk gene in a central European cohort. PMID: 28051077
2. These results suggest that FIG4 binds to hepatitis C virus and modulates particle formation in a cholesteryl ester-related manner. PMID: 26519381
3. data identify a novel role of the ArPIKfyve-Sac3 complex in the mechanisms controlling aggregate formation of Sph1 and suggest that Sac3 protein deficiency or overproduction may facilitate aggregation of aggregation-prone proteins PMID: 26405034
4. The findings suggest that FIG4 may have a common role in the formation or degradation of neuronal cytoplasmic and nuclear inclusions in several neurodegenerative diseases. PMID: 23888880
5. FIG4 mutations were identified in autosomal-dominant Amyotrophic lateral sclerosis. PMID: 24085347
6. Phenotypes associated with FIG4 mutations include cortical malformation associated with seizures and psychiatric manifestations, in addition to the Charcot-Marie-Tooth disease type 4J and Yunis-Varon syndrome. PMID: 24598713
7. Identified novel biallelic FIG4 mutations. PMID: 24088667
8. Genetic variations in the FIG4 gene were not found to cause ALS in Italian patients. PMID: 23336365
9. results uncover an unexpected role for Sac3 phosphatase in triple-negative breast cancer cell proliferation PMID: 24070605
10. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. PMID: 23623387
11. This study demonistrated that CMT4J is a clinically distinct form of Charcot-Marie-Tooth disease with mutations in the PI(3,5)P phosphatase FIG4. PMID: 21705420
12. 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
13. We identified pathogenic mutations of human FIG4 (KIAA0274) on chromosome 6q21 in four unrelated patients with hereditary motor and sensory neuropathy. PMID: 17572665
14. 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
15. Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases PMID: 19118816
16. 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(guān)疾病：

Charcot-Marie-Tooth disease 4J (CMT4J); Amyotrophic lateral sclerosis 11 (ALS11); Yunis-Varon syndrome (YVS); Polymicrogyria, bilateral temporooccipital (BTOP)
亞細(xì)胞定位：

Endosome membrane.
數(shù)據(jù)庫鏈接：

HGNC: 16873

OMIM: 216340

KEGG: hsa:9896

STRING: 9606.ENSP00000230124

UniGene: Hs.529959