Recombinant Human BBSome complex member BBS1 (BBS1)

中文名稱：

Recombinant Human BBSome complex member BBS1 (BBS1)
品名簡稱：

Recombinant Human BBS1 protein
貨號：

CSB-EP836736HU
說明書：

MSDS Datasheet
規(guī)格：

￥1536
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

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

產(chǎn)品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
生物活性：

Not Test
基因名：

BBS1
Uniprot No.：

Q8NFJ9
別名：

BBS2-like protein 2
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
來源：

E.coli
分子量：

71.9 kDa
表達區(qū)域：

2-593aa
氨基酸序列

AAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGGSEVGPPPAQAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLSTTAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGISDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標(biāo)簽：

C-terminal 6xHis-tagged
產(chǎn)品提供形式：

Liquid or 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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
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：

Basically, we can dispatch the products out in 3-7 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.
Datasheet & COA：

Please contact us to get it.

產(chǎn)品評價

靶點詳情

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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Plays a role in olfactory cilium biogenesis/maintenance and trafficking.
基因功能參考文獻：
1. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
2. M390R mutation in BBS1 reduces surface expression of insulin receptor in fibroblasts derived from BBS patients. PMID: 26103456
3. BBS1 emerged as a novel predictor of overall survival in MPM. PMID: 26254420
4. Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. PMID: 24611735
5. We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4. PMID: 26022370
6. A homozygous BBS1 p.M390R mutation is associated with Bardet-Biedl syndrome. PMID: 25494902
7. novel BBS1 mutations in Bardet-Biedl syndrome patients in Spain PMID: 24611592
8. Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. PMID: 24939912
9. mediates endosomal recycling, sorting and signal transduction of Notch receptors PMID: 24681783
10. Novel mutations (c.1110G>A and c.39delA (p.G13fs*41)) in BBS1 found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
11. loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment. PMID: 24691443
12. Exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1. PMID: 23559858
13. Our findings confirm the consistent pathogenicity of the BBS1 M390R mutation in Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. PMID: 22940089
14. Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS. PMID: 23143442
15. Patients with BBS1 mutations had a milder phenotype than did patients with mutations in other BBS genes. PMID: 22410627
16. this report describes the identification and characterization of a splice donor site mutation that leads to missplicing of BBS1 transcripts in Bardet-Biedl syndrome. PMID: 21520335
17. This protein has amino acid sequence homolgy with mice. Missense mutation accounts for about 80% of all BBS1 mutations on a similar genetic background across populations. PMID: 12524598
18. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with this protein. PMID: 12567324
19. BBS1 participates in complex inheritance and in different families, mutations in BBS1 can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype PMID: 12677556
20. The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype. PMID: 12837689
21. disease-associated alleles occur at relatively high frequencies in normal haplotypes PMID: 15517396
22. The cardinal feature of retinal degeneration in BBS1 can show a wide spectrum of disease expression. PMID: 17065520
23. A novel BBS1 mutation was identified, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate. PMID: 18669544
24. Although neither proband fulfilled the typical criteria for BBS, this diagnosis was confirmed on mutation analysis. PMID: 18766993
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相關(guān)疾病：

Bardet-Biedl syndrome 1 (BBS1)
亞細(xì)胞定位：

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

Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
數(shù)據(jù)庫鏈接：

HGNC: 966

OMIM: 209900

KEGG: hsa:582

STRING: 9606.ENSP00000317469

UniGene: Hs.502915