Recombinant Human Hermansky-Pudlak syndrome 6 protein (HPS6)

中文名稱：

人HPS6重組蛋白
貨號：

CSB-YP803158HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人HPS6重組蛋白
貨號：

CSB-EP803158HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人HPS6重組蛋白
貨號：

CSB-EP803158HU-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HPS6重組蛋白
貨號：

CSB-BP803158HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人HPS6重組蛋白
貨號：

CSB-MP803158HU
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：

HPS6
Uniprot No.：

Q86YV9
別名：

BLOC2S3; FLJ22501; Hermansky Pudlak syndrome 6 protein; Hermansky-Pudlak syndrome 6 protein; HPS6; HPS6 biogenesis of lysosomal organelles complex 2 subunit 3; HPS6_HUMAN; MGC20522; Ru; Ruby eye protein homolog; Ruby-eye protein homolog
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-775
氨基酸序列

MKRSGTLRLL SDLSAFGGAA RLRELVAGDS AVRVRGSPDG RHLLLLRPPG AVAPQLLVAS RGPGAELERA WPAGQPSPLD AFFLPWPARP ALVLVWESGL AEVWGAGVGP GWRPLQSTEL CPGGGARVVA VAALRGRLVW CEERQARAEG PSGSPAAAFS HCVCVRTLEP SGEASTSLGR THVLLHHCPA FGLLASCRQL FLVPTATTWP GVAHVLLIWS PGKGKVMVAA PRLGLSYSKS LNPGRGDTWD FRTLLRGLPG LLSPREPLAV HTWAPTPQGL LLLDFGGTVS LLQSHGGTRA VGTLQEAPVG PWGSAALGTF QGTLACVLGS TLELLDMGSG QLLERKVLST DRVHLLEPPA PGMEDEEELE TRGNLRLLSA LGLFCVGWEA PQGVELPSAK DLVFEEACGY YQRRSLRGAQ LTPEELRHSS TFRAPQALAS ILQGHLPPSA LLTMLRTELR DYRGLEQLKA QLVAGDDEEA GWTELAEQEV ARLLRTELIG DQLAQLNTVF QALPTAAWGA TLRALQLQLD GNGKLRSQAP PDVWKKVLGG ITAGKEPPNG ILPPFELLCQ CLCQLEPRWL PPFVELAQQQ GGPGWGAGGP GLPLYRRALA VLGEEGTRPE ALELELLLSS GRPKAVLQAV GQLVQKEQWD RALDAGLALG PSSPLLRSEI FKLLLAEFAQ HRRLDAHLPL LCRLCPPELA PAELLLLLRT YLPDEVGPPT PFPEPGAEPP LTVGLLKALL EQTGAQGWLS GPVLSPYEDI LWDPSTPPPT PPRDL
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：

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning.
基因功能參考文獻：
1. Identification of a novel mutation in HPS6 in an individual with hemophilia B shows that, although quite rare, patients may be diagnosed with two independent inherited bleeding disorders. No evidence of lung disease was found in this adult patient with Hermansky-Pudlak syndrome subtype 6 PMID: 27641950
2. the novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk. PMID: 27917594
3. Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant. PMID: 26823395
4. we report novel HPS6 mutations as the first report of HPS6 mutations in the Japanese population. The clinical features in the two sisters suggest OA. Although the patients in this study showed no bleeding problem, we could establish a diagnosis of HPS-6 by WES. PMID: 27225848
5. HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes PMID: 25189619
6. Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis-diaminedichloroplatinum II treatment. PMID: 22203954
7. Molecular studies showed a variety of mutations in the single exon HPS6 gene, including frame shift, missense, and nonsense mutations as well as a approximately 20 kb deletion spanning the entire HPS6 genomic region. PMID: 19843503
8. Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease. PMID: 15030569
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相關疾病：

Hermansky-Pudlak syndrome 6 (HPS6)
亞細胞定位：

Microsome membrane. Cytoplasm, cytosol. Early endosome membrane. Lysosome membrane.
組織特異性：

Ubiquitous.
數據庫鏈接：

HGNC: 18817

OMIM: 607522

KEGG: hsa:79803

STRING: 9606.ENSP00000299238

UniGene: Hs.125133