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  4. Recombinant Human Fermitin family homolog 1 (FERMT1)

Recombinant Human Fermitin family homolog 1 (FERMT1)

  • 中文名称：
    人FERMT1重组蛋白
  • 货号：
    CSB-YP874786HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人FERMT1重组蛋白
  • 货号：
    CSB-EP874786HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人FERMT1重组蛋白
  • 货号：
    CSB-EP874786HU-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：
  • 中文名称：
    人FERMT1重组蛋白
  • 货号：
    CSB-BP874786HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人FERMT1重组蛋白
  • 货号：
    CSB-MP874786HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    FERMT1
  • Uniprot No.：
  • 别名：
    C20orf42; Chromosome 20 open reading frame 42; DTGCU 2; DTGCU2; FERM1_HUMAN; Fermitin family homolog 1; Fermitin family member 1; Fermt1; FLJ20116; FLJ23423; KIND 1; KIND1; Kinderlin; Kindlerin; Kindlin 1; Kindlin syndrome protein; Kindlin-1; Kindlin1; Unc 112 related protein 1; Unc-112-related protein 1; Unc112 related protein ; UNC112A; URP 1; URP1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-677
  • 氨基酸序列
    MLSSTDFTFA SWELVVRVDH PNEEQQKDVT LRVSGDLHVG GVMLKLVEQI NISQDWSDFA LWWEQKHCWL LKTHWTLDKY GVQADAKLLF TPQHKMLRLR LPNLKMVRLR VSFSAVVFKA VSDICKILNI RRSEELSLLK PSGDYFKKKK KKDKNNKEPI IEDILNLESS PTASGSSVSP GLYSKTMTPI YDPINGTPAS STMTWFSDSP LTEQNCSILA FSQPPQSPEA LADMYQPRSL VDKAKLNAGW LDSSRSLMEQ GIQEDEQLLL RFKYYSFFDL NPKYDAVRIN QLYEQARWAI LLEEIDCTEE EMLIFAALQY HISKLSLSAE TQDFAGESEV DEIEAALSNL EVTLEGGKAD SLLEDITDIP KLADNLKLFR PKKLLPKAFK QYWFIFKDTS IAYFKNKELE QGEPLEKLNL RGCEVVPDVN VAGRKFGIKL LIPVADGMNE MYLRCDHENQ YAQWMAACML ASKGKTMADS SYQPEVLNIL SFLRMKNRNS ASQVASSLEN MDMNPECFVS PRCAKRHKSK QLAARILEAH QNVAQMPLVE AKLRFIQAWQ SLPEFGLTYY LVRFKGSKKD DILGVSYNRL IKIDAATGIP VTTWRFTNIK QWNVNWETRQ VVIEFDQNVF TAFTCLSADC KIVHEYIGGY IFLSTRSKDQ NETLDEDLFH KLTGGQD
  • 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：
    Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression.
  • 基因功能参考文献：
    1. Kindlin-1 is mainly expressed in the cytoplasm of normal esophageal squamous epithelium and Esophageal cancer (EC) cells. Kindlin-1 expression is positively correlated with tumor cell differentiation and is higher in stage I tumors. Kindlin-1 expression is higher in non-smoker patients than in smoker patients, and in patients with a family history of EC. PMID: 28667517
    2. Kindlin supports platelet GPIIB IIIA activation by interacting with paxillin. PMID: 28954813
    3. we demonstrated that Kindlin-1 promotes CRC progression by recruiting SARA and Smad3 to TbetaRI and thereby activates TGF-beta/Smad3 signaling. Thus, Kindlin-1 is a novel regulator of TGF-beta/Smad3 signaling and may also be a potential target for CRC therapeutics. PMID: 27776350
    4. Sequence analysis of KIND1 exons in patient 1 revealed a commonly reported homozygous nonsense mutation in exon 6 (c.811C>T;p.R271X). Both Patients 2 and 3 had novel homozygous single nucleotide deletions PMID: 27862150
    5. KS patients' periodontal disease activity could be taken under control with regular follow-up. PMID: 29168364
    6. these data define a novel role for Kin1 in microtubule acetylation and stability PMID: 26993041
    7. keratinocytes derived from KS patients are unable to undergo electrotaxis, and this defect is restored by overexpression of wild-type kindlin-1 but not a W612A mutation that prevents kindlin-integrin binding. PMID: 27427485
    8. FERMT1 activates the beta-catenin transcriptional activity to promote EMT in CC metastasis. PMID: 27641329
    9. KIND1 is important not only for keratinocyte proliferation but also for the suppression of UV-induced inflammation and DNA damage. PMID: 27725201
    10. We show a direct relationship between kindlin-1 abundance and UV-B induced apoptosis in keratinocytes, whereas kindlin-2 overexpression has no compensatory effect. PMID: 27798104
    11. These results indicate that Kindlin-1 is essential in EGF-induced re-epithelialization in skin wound healing and provide additional rationale for the clinical application of EGF in the treatment of acute wounds. PMID: 28290610
    12. KS is caused by mutations in the FERMT1 gene. Including the present, more than 60 mutations in FERMT1 have been identified since 2003. In spite of the expanding FERMT1 mutation database, there seems to be a lack of a clear genotype-phenotype correlation in KS PMID: 25865288
    13. A nonsense mutation in Exon 5 of KIND1 Gene in an Iranian Family may lead to incomplete and non-functional protein products and is pathogenic and has meaningful implications for the diagnosis of patients with Kindler syndrome. PMID: 27293055
    14. we show that a certain number of KS patients may harbor FERMT1 transcriptional regulatory mutations which are not routinely detected. PMID: 25156791
    15. Kindlin-1 is highly expressed in epithelial tissues derived from ectoderm and endoderm, whereas Kindlin-2 is mainly expressed in mesoderm-derived tissues. Likewise, Kindlin-1 was also found highly expressed in endoderm/ectoderm-derived tissues in embryos. PMID: 25591451
    16. FERMT1 mutation causing Kindler syndrome. PMID: 26083552
    17. our data suggest that Kindlin-1 could play an important role in hepatocellular carcinoma and might serve as a promising prognostic marker and potential target for hepatocellular carcinoma therapy. PMID: 25592379
    18. A spectrum of FERMT1 mutations in 13 Iranian families with a diagnosis of Kindler syndrome have been ascertained. PMID: 25599393
    19. We identified a novel mutation in FERMT1. These data are in agreement with the fact that the majority of KS-causing mutations in FERMT1 lead to premature termination of translation and to loss of kindlin-1 function in Kindler sysndrome PMID: 24635080
    20. C-terminal LIM domains of migfilin dictate its focal adhesion localization, and these domains mediate an interaction with kindlin in vitro and in cells, demonstrating that kindlin is important for normal migfilin dynamics. PMID: 24165133
    21. Data uncover a role for kindlin-1 in the regulation of integrin trafficking and adhesion turnover. PMID: 23776470
    22. Short interfering RNA-mediated depletion of Kindlin-1 increases formation of abnormal mitotic spindles which is dependent on the ability of Kindlin-1 to bind integrins and Polo-like kinase 1-mediated Kindlin-1 phosphorylation. PMID: 23804033
    23. Individuals with Kindler syndrome (KS) have loss-of-function mutations in the FERMT1 gene PMID: 23278235
    24. Whereas both Integrin-linked kinase (Ilk) and Kindlin-1 cooperate with Integrin alpha3beta1 to resist trauma-induced epidermal defects, Kindlin-1 and Ilk, surprisingly, do not act synergistically but in parallel. PMID: 23549420
    25. Kindlin-1 expression is involved in the progression of pancreatic cancer via enhancement of cell migration and invasion. PMID: 23440354
    26. Kindlin-1 and Kindlin-2 have opposite roles in lung cancers PMID: 23209705
    27. the results of this study indicate that FERMT1 is expressed specifically in colon carcinoma cells, and has roles in matrix invasion and cell growth PMID: 23267142
    28. Direct sequencing of the FERMT1 gene revealed a homozygous insertion of cytosine at position 676 (c.676insC) in exon 5 in seven patients. PMID: 22220914
    29. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications in Kindler syndrome ( FERMT1 ) PMID: 21936020
    30. Kindlin-1 expression in breast tumors is associated with lung metastasis and lung metastasis-free survival through regulation of TGF-beta signaling. Kindlin-1-silencing prevented tumor growth and lung metastasis in mice. PMID: 21832234
    31. FERMT1 is a novel prognostic factor for colon carcinoma. PMID: 21220475
    32. Describe five novel and three recurrent loss-of-function FERMT1 mutations in eight individuals with Kindler syndrome, and provide an overview of genotype-phenotype correlation in this disorder. PMID: 21336475
    33. Induction of phenotype modifying cytokines by FERMT1 mutations PMID: 21309038
    34. The phenotype of kindlin-1-deficient cells can be modulated by regulating kindlin-2 gene expression and vice versa. PMID: 21356350
    35. In summary, we have described a recurrent splice-site deletion mutation in KIND1 in Kindler syndrome. PMID: 21146372
    36. A novel mutation in the FERMT1 gene in a Spanish family with Kindler's syndrome is reported. PMID: 20028441
    37. cellular functions and possible clinical relevance of kindlin-1 [REVIEW] PMID: 19854292
    38. Null mutations in FERMT1 result in skin blistering from birth and early childhood progressive poikiloderma, mucosal fragility, and increased risk of cancer PMID: 19945623
    39. kindlerin has a role in mediating cell processes that depend on integrins PMID: 14634021
    40. loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity PMID: 14962093
    41. Kindlin-1 is considered to be a component in the linkage of the actin cytoskeleton to the extracellular matrix and as such is proposed to have both structural and cell-signalling functions. Review. PMID: 15927810
    42. Mutated at intron 13 in Kindler syndrome. PMID: 16051467
    43. The abundance of repetitive elements in intronic regions of KIND1, together with the identification of a large deletion, suggests that genomic rearrangements could be responsible for a significant proportion of Kindler syndrome cases PMID: 16675959
    44. Kindlin-1 has roles in regulation of polarity, proliferation, and motility of epidermal keratinocytes PMID: 17012746
    45. Kindlin-1 links the actin cytoskeleton to the extracellular matrix and is supposed to have cell-signaling functions owing to different functional domains. PMID: 17178989
    46. analysis of KIND1 gene mutations in Kindler syndrome [case reports] PMID: 17460733
    47. The KIND1 mutation c.67insC represents the most common recurrent pathogenic gene mutation in patients with KS. PMID: 17916195
    48. Two patients with Kindler Syndrome have mutations in KIND-1. In patient 1, there was a duplication of cytosine at position 676 in exon 5 of kindlin-1 mRNA. In patient 2, a novel mutation of exon 3 of KIND1 gene c.170C>A. PMID: 17989907
    49. a splice site mutation in the first position of intron 13 of the FERMT1 gene caused skipping of exon 13. PMID: 18652585
    50. A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. PMID: 18835760

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  • 相关疾病：
    Kindler syndrome (KNDLRS)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Constituent of focal adhesions. Localized at the basal aspect of skin keratinocytes, close to the cell membrane. Colocalizes with filamentous actin. Upon TGFB1 treatment, it localizes to membrane ruffles.
  • 蛋白家族：
    Kindlin family
  • 组织特异性：
    Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes. Overexpressed in some colon and lung tu
  • 数据库链接：

    HGNC: 15889

    OMIM: 173650

    KEGG: hsa:55612

    STRING: 9606.ENSP00000217289

    UniGene: Hs.472054