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  4. Recombinant Human Protein transport protein Sec23B (SEC23B)

Recombinant Human Protein transport protein Sec23B (SEC23B)

  • 货号：
    CSB-YP621874HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP621874HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP621874HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 货号：
    CSB-BP621874HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP621874HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    CDA II; CDAII; CDAN2; HEMPAS; Protein transport protein Sec23B; RP11-379J5.1; SC23B_HUMAN; Sec23 homolog B (S. cerevisiae); SEC23 related protein B; SEC23-like protein B; SEC23-related protein B; Sec23b; Transport protein SEC23B
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    2-767
  • 氨基酸序列
    ATYLEFIQQ NEERDGVRFS WNVWPSSRLE ATRMVVPLAC LLTPLKERPD LPPVQYEPVL CSRPTCKAVL NPLCQVDYRA KLWACNFCFQ RNQFPPAYGG ISEVNQPAEL MPQFSTIEYV IQRGAQSPLI FLYVVDTCLE EDDLQALKES LQMSLSLLPP DALVGLITFG RMVQVHELSC EGISKSYVFR GTKDLTAKQI QDMLGLTKPA MPMQQARPAQ PQEHPFASSR FLQPVHKIDM NLTDLLGELQ RDPWPVTQGK RPLRSTGVAL SIAVGLLEGT FPNTGARIML FTGGPPTQGP GMVVGDELKI PIRSWHDIEK DNARFMKKAT KHYEMLANRT AANGHCIDIY ACALDQTGLL EMKCCANLTG GYMVMGDSFN TSLFKQTFQR IFTKDFNGDF RMAFGATLDV KTSRELKIAG AIGPCVSLNV KGPCVSENEL GVGGTSQWKI CGLDPTSTLG IYFEVVNQHN TPIPQGGRGA IQFVTHYQHS STQRRIRVTT IARNWADVQS QLRHIEAAFD QEAAAVLMAR LGVFRAESEE GPDVLRWLDR QLIRLCQKFG QYNKEDPTSF RLSDSFSLYP QFMFHLRRSP FLQVFNNSPD ESSYYRHHFA RQDLTQSLIM IQPILYSYSF HGPPEPVLLD SSSILADRIL LMDTFFQIVI YLGETIAQWR KAGYQDMPEY ENFKHLLQAP LDDAQEILQA RFPMPRYINT EHGGSQARFL LSKVNPSQTH NNLYAWGQET GAPILTDDVS LQVFMDHLKK LAVSSAC
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex.
  • 基因功能参考文献：
    1. A Y462C mutation was found in 5 members of a consanguineous Indian family. In the homozygous patient, it resulted in congenital dyserythropoietic anemia type II. PMID: 28879554
    2. described the functional interaction between GATA1 and SEC23B genes in two patients with suspected congenital dyserythropoietic anemia type II PMID: 28550189
    3. these data demonstrate an equivalent function for SEC23A/B, with evolutionary shifts in the transcription program likely accounting for the distinct phenotypes of SEC23A/B deficiency within and across species, a paradigm potentially applicable to other sets of paralogous genes. PMID: 30065114
    4. novel compound mutations of c.1727T>C and c.1831C>T of the SEC23B gene probably underlie the congenital dyserythropoietic anemia type II in the family PMID: 29188620
    5. Mutation in SEC23B gene is associated with congenital dyserythropoietic anemia. PMID: 29031773
    6. miR-130a is an epigenetically regulated miRNA involved in regulation of key molecular and phenotypic features of prostate carcinogenesis, acting as a tumour suppressor miRNA by targeting SEC23B and DEPDC1. PMID: 27984115
    7. SEC23B-Y462C congenital dyserythropoietic anemia type II is only seen in a distinct Indian community (Vaish) in whom a recessively inherited shared haplotype can be showed, consistent with a founder effect. PMID: 25418799
    8. Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. PMID: 26522472
    9. Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A --> G mutation, and pseudo-Gaucher cells in two siblings has been described. PMID: 24801240
    10. Both probands with congenital dyserythropoietic anemia IotaI in the second family were homozygotes of the SEC23B gene with mutation c.938G>A (R313H). PMID: 24196372
    11. Mutations in SEC23B lead to congenital dyserythropoietic anemia type II due to alterations in coat protein (COP)II complex trafficking machinery. [REVIEW] PMID: 22764119
    12. study identified four novel SEC23B mutations associated with ongenital dyserythropoietic anemia type II disease; also demonstrated that the genetic alteration results in a significant decrease of SEC23B transcript in erythroid precursors PMID: 22208203
    13. Data indicate that SEC23B founder mutations E109K and R14W account for about 54% of all mutations in CDA II patients in Italy; data suggest R14W occurred Southern Italy, E109K is more widespread within Europe. PMID: 21850656
    14. Correlation between SEC23B mutations and congenital dyserythropoietic anemia type II parameters shows that addition of one missense mutation and one nonsense mutation tends to produce a more severe presentation then association of two missense mutations. PMID: 20015893
    15. Most congenital dyserythropoietic anemia II patients in Israel are of Moroccan Jewish origin and carry a common SEC23B mutation, E109K, the first to be described as a founder mutation causing CDA II. PMID: 21252497
    16. found 19 novel variants in the homozygous or the compound heterozygous state in 28 CDA II patients from 21 unrelated families enrolled in the CDA II International Registry PMID: 20941788
    17. This study found SEC23B mutations in two patients previously classified as atypical congenital dyserythropoietic anemias presenting with hydrops foetalis. PMID: 20381388
    18. Hetero- or homozygous mutation of CDAN2 causes hypoglycosylation of band 3, accumulation and hypoglycosylation of polyglycosylceramides, and accumulation of lactotriaosylceramide. PMID: 11836161
    19. These results provide in vivo evidence for SEC23B selectivity in erythroid differentiation and show that SEC23A and SEC23B, although highly related paralogous secretory COPII components, are nonredundant in erythrocyte maturation. PMID: 19561605
    20. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. PMID: 19621418

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  • 相关疾病：
    Cowden syndrome 7 (CWS7); Anemia, congenital dyserythropoietic, 2 (CDAN2)
  • 亚细胞定位：
    Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytosol.
  • 蛋白家族：
    SEC23/SEC24 family, SEC23 subfamily
  • 组织特异性：
    Ubiquitously expressed.
  • 数据库链接：

    HGNC: 10702

    OMIM: 224100

    KEGG: hsa:10483

    STRING: 9606.ENSP00000262544

    UniGene: Hs.369373