Recombinant Human Trafficking protein particle complex subunit 2 (TRAPPC2)

中文名稱：

人TRAPPC2重組蛋白
貨號：

CSB-YP024227HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人TRAPPC2重組蛋白
貨號：

CSB-EP024227HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人TRAPPC2重組蛋白
貨號：

CSB-EP024227HU-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TRAPPC2重組蛋白
貨號：

CSB-BP024227HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人TRAPPC2重組蛋白
貨號：

CSB-MP024227HU
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：

TRAPPC2
Uniprot No.：

P0DI81
別名：

TRAPPC2; SEDL; Trafficking protein particle complex subunit 2; Sedlin
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-140
氨基酸序列

MSGSFYFVIV GHHDNPVFEM EFLPAGKAES KDDHRHLNQF IAHAALDLVD ENMWLSNNMY LKTVDKFNEW FVSAFVTAGH MRFIMLHDIR QEDGIKNFFT DVYDLYIKFS MNPFYEPNSP IRSSAFDRKV QFLGKKHLLS
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：

Prevents transcriptional repression and induction of cell death by ENO1. May play a role in vesicular transport from endoplasmic reticulum to Golgi.
基因功能參考文獻：
1. c.93+5G>A mutation in the TRAPPC2 gene is associated with X-linked spondyloepiphyseal dysplasia in a Chinese family. PMID: 26252088
2. a novel hemizygous mutation, c.341-(11_9)delAAT, in an intron of TRAPPC caused spondyloepiphyseal dysplasia tarda PMID: 23656395
3. Data suggest that c.267_271delAAGAC frameshift mutation of the exon 5 of the spondyloepiphyseal dysplasia, late protein (SEDL) gene probably underlies the disease in the family. PMID: 25297591
4. identification of the novel nonsense mutation (c.61G>T) in the SEDT family enables carrier detection, genetic counseling, and prenatal diagnosis. PMID: 24841781
5. A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. PMID: 23876379
6. Studies indicate that splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1, SEDL and LRP. PMID: 23800666
7. Sedlin bound and promoted efficient cycling of Sar1, a guanosine triphosphatase that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils. PMID: 23019651
8. Data show that a disease-causing mutation of TRAPPC2, D47Y, failed to interact with either TRAPPC9 or TRAPPC8, suggesting that aspartate 47 in TRAPPC2 is at or near the site of interaction with TRAPPC9 or TRAPPC8. PMID: 21858081
9. Data indicate SPATA4 interacts with the C2 portion of the TRAPP complex. PMID: 21827752
10. SEDLIN is present in the nucleus, forms homodimers and that SEDT-associated mutations cause a loss of interaction with the transcription factors MBP1, PITX1 and SF1. PMID: 20498720
11. The results suggest that nucleus-localized Sedlin may play a role in regulation of transcriptional activities of the MRG family of transcription factors via binding to PAM14. PMID: 20108251
12. Identification of the novel insertion mutation (c.370-371insA) in this X-linked spondyloepiphyseal dysplasia tarda family is predicted to result in frameshifts and generate a premature stop codon PMID: 19766614
13. A novel mutation produces a truncated protein, which may be useful in determining carboxy-terminal function PMID: 12030902
14. SEDL mutations are not a common cause of early primary osteoarthritis in men. PMID: 12123495
15. The mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3 which is responsible for the X-linked spondyloepiphyseal dysplasia tarda. PMID: 12579492
16. A previously unreported deletion of T in exon 5 of SEDL gene (293delT) was observed in 2 spondyloepiphyseal dysplasia probands in a Chinese family; seven individuals in the family carry the mutation resulting in frameshift and a putative truncated protein PMID: 12650905
17. 3 new SEDL mutations were found: 1 in the non-canonical 5' splice site of intron 4 (IVS4+4T>C), a deletion in exon 6 [333-336del(GAAT) & a 1.335-kb deletion (in5/ex6del). PMID: 12919139
18. Sedl protein may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complex PMID: 12939648
19. Six novel SEDL mutations found in European X-linked spondyloepiphyseal dysplasia tarda patients. PMID: 15221797
20. The 13 bp deletion mutation consisting of IVS5-2-1delAG and 322-332del TTTTCAATGAA was identified in SEDL patients, but not detected in unrelated normal male individuals. PMID: 15300622
21. Data show that mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. PMID: 15952107
22. SEDL gene mutation in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda (SEDL) PMID: 18247296
23. A novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree. PMID: 18393234
24. results illustrate how disruption of the AT donor site in a rare AT-AC intron, leading to a canonical GT donor site, resulted in a multitude of aberrant transcripts, thus impairing exon definition of the SEDL gene. PMID: 19002213
25. A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. PMID: 19417549
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相關疾病：

Spondyloepiphyseal dysplasia tarda (SEDT)
亞細胞定位：

Cytoplasm, perinuclear region. Endoplasmic reticulum-Golgi intermediate compartment. Nucleus. Cytoplasm.
蛋白家族：

TRAPP small subunits family, Sedlin subfamily
組織特異性：

Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes.
數據庫鏈接：

HGNC: 23068

OMIM: 300202

KEGG: hsa:6399

STRING: 9606.ENSP00000392495

UniGene: Hs.592238