Recombinant Human Hermansky-Pudlak syndrome 4 protein (HPS4)

Code CSB-YP868287HU
MSDS
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Source Yeast
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Code CSB-EP868287HU
MSDS
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Source E.coli
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Code CSB-EP868287HU-B
MSDS
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Source E.coli
Conjugate 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.
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Code CSB-BP868287HU
MSDS
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Source Baculovirus
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Code CSB-MP868287HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
HPS4
Uniprot No.
Alternative Names
HPS4; KIAA1667; Hermansky-Pudlak syndrome 4 protein; Light-ear protein homolog
Species
Homo sapiens (Human)
Expression Region
1-708
Target Protein Sequence
MATSTSTEAK SASWWNYFFL YDGSKVKEEG DPTRAGICYF YPSQTLLDQQ ELLCGQIAGV VRCVSDISDS PPTLVRLRKL KFAIKVDGDY LWVLGCAVEL PDVSCKRFLD QLVGFFNFYN GPVSLAYENC SQEELSTEWD TFIEQILKNT SDLHKIFNSL WNLDQTKVEP LLLLKAARIL QTCQRSPHIL AGCILYKGLI VSTQLPPSLT AKVLLHRTAP QEQRLPTGED APQEHGAALP PNVQIIPVFV TKEEAISLHE FPVEQMTRSL ASPAGLQDGS AQHHPKGGST SALKENATGH VESMAWTTPD PTSPDEACPD GRKENGCLSG HDLESIRPAG LHNSARGEVL GLSSSLGKEL VFLQEELDLS EIHIPEAQEV EMASGHFAFL HVPVPDGRAP YCKASLSASS SLEPTPPEDT AISSLRPPSA PEMLTQHGAQ EQLEDHPGHS SQAPIPRADP LPRRTRRPLL LPRLDPGQRG NKLPTGEQGL DEDVDGVCES HAAPGLECSS GSANCQGAGP SADGISSRLT PAESCMGLVR MNLYTHCVKG LVLSLLAEEP LLGDSAAIEE VYHSSLASLN GLEVHLKETL PRDEAASTSS TYNFTHYDRI QSLLMANLPQ VATPQDRRFL QAVSLMHSEF AQLPALYEMT VRNASTAVYA CCNPIQETYF QQLAPAARSS GFPNPQDGAF SLSGKAKQKL LKHGVNLL
Protein Length
full length protein
Tag Info
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.
Form
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 before Lyophilization
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℃/-80℃. 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.
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.
Notes
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.

Customer Reviews and Q&A

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Target Background

Function
Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38.
Gene References into Functions
  1. BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38. PMID: 23084991
  2. These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia. PMID: 24168225
  3. These results suggest that the HPS4 gene confers a susceptibility to schizophrenia. PMID: 23563589
  4. Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries. PMID: 21833017
  5. Data show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 effector in the biogenesis of lysosome-related organelles. PMID: 20048159
  6. identification of mutations which establish HPS4 as important in Herman-Pudlak syndrome, and identification of mouse homolog light-ear gene PMID: 11836498
  7. identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles PMID: 12663659
  8. Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis. PMID: 12664304
  9. observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles PMID: 12756248

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Involvement in disease
Hermansky-Pudlak syndrome 4 (HPS4)
Database Links

HGNC: 15844

OMIM: 606682

KEGG: hsa:89781

STRING: 9606.ENSP00000338457

UniGene: Hs.474436

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