Recombinant Human Protein PTHB1 (BBS9), partial

中文名稱：

Recombinant Human Protein PTHB1(BBS9) ,partial
貨號(hào)：

CSB-YP659641HU
說(shuō)明書：

MSDS Datasheet
規(guī)格：
來(lái)源：

Yeast
其他：

中文名稱：

Recombinant Human Protein PTHB1(BBS9) ,partial
貨號(hào)：

CSB-EP659641HU
說(shuō)明書：

MSDS Datasheet
規(guī)格：
來(lái)源：

E.coli
其他：

中文名稱：

Recombinant Human Protein PTHB1(BBS9) ,partial
貨號(hào)：

CSB-EP659641HU-B
說(shuō)明書：

MSDS Datasheet
規(guī)格：
來(lái)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：

Recombinant Human Protein PTHB1(BBS9) ,partial
貨號(hào)：

CSB-BP659641HU
說(shuō)明書：

MSDS Datasheet
規(guī)格：
來(lái)源：

Baculovirus
其他：

中文名稱：

Recombinant Human Protein PTHB1(BBS9) ,partial
貨號(hào)：

CSB-MP659641HU
說(shuō)明書：

MSDS Datasheet
規(guī)格：
來(lái)源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)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：

BBS9
Uniprot No.：

Q3SYG4
別名：

B1; Bardet Biedl syndrome 9; Bardet-Biedl syndrome 9 protein; bbs9; C18; D1; MGC118917; OTTHUMP00000158833; OTTHUMP00000202918; OTTHUMP00000202919; OTTHUMP00000202920; Parathyroid hormone-responsive B1 gene protein; Protein PTHB1; PTH-responsive osteosarcoma B1 protein; PTHB1; PTHB1_HUMAN
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)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(píng)價(jià)

靶點(diǎn)詳情

功能：

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.
基因功能參考文獻(xiàn)：
1. Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women PMID: 26480920
2. BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene. PMID: 26846096
3. BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a beta-propeller. PMID: 26085087
4. we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports. PMID: 24400638
5. The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration. PMID: 25631089
6. Robust associations with nonsyndromic sagittal craniosynostosis were found in a 120-kb region downstream of BMP2 flanked by rs1884302 and rs6140226 and within a 167-kb region of BBS9 between rs10262453 and rs17724206. PMID: 23160099
7. Human BBS9 mRNA rescues bbs9 knockdown phenotype in the zebrafish. PMID: 22479622
8. gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour; new alternately spliced isoforms were found in a wide range of adult and foetal tissues PMID: 12618763
9. Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene. PMID: 16380913
10. PTHB1 is strongly associated with POF, and ht1 confers susceptibility to POF PMID: 18349106
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相關(guān)疾病：

Bardet-Biedl syndrome 9 (BBS9)
亞細(xì)胞定位：

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
組織特異性：

Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 30000

OMIM: 607968

KEGG: hsa:27241

STRING: 9606.ENSP00000242067

UniGene: Hs.372360