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  4. Recombinant Human Mastermind-like domain-containing protein 1 (MAMLD1)

Recombinant Human Mastermind-like domain-containing protein 1 (MAMLD1)

  • 中文名称：
    人MAMLD1重组蛋白
  • 货号：
    CSB-YP613404HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人MAMLD1重组蛋白
  • 货号：
    CSB-EP613404HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人MAMLD1重组蛋白
  • 货号：
    CSB-EP613404HU-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MAMLD1重组蛋白
  • 货号：
    CSB-BP613404HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人MAMLD1重组蛋白
  • 货号：
    CSB-MP613404HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    MAMLD1
  • Uniprot No.：
  • 别名：
    MAMLD1; CG1; CXorf6; Mastermind-like domain-containing protein 1; F18; Protein CG1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-774
  • 氨基酸序列
    MDDWKSRLVI KSMLPHFAMV GNRQEPRKLQ ESGKKPSWME EEDLSFLYKS SPGRKHQGTV KRRQEEDHFQ FPDMADGGYP NKIKRPCLED VTLAMGPGAH PSTACAELQV PPLTINPSPA AMGVAGQSLL LENNPMNGNI MGSPFVVPQT TEVGLKGPTV PYYEKINSVP AVDQELQELL EELTKIQDPS PNELDLEKIL GTKPEEPLVL DHPQATLSTT PKPSVQMSHL ESLASSKEFA SSCSQVTGMS LQIPSSSTGI SYSIPSTSKQ IVSPSSSMAQ SKSQVQAMLP VALPPLPVPQ WHHAHQLKAL AASKQGSATK QQGPTPSWSG LPPPGLSPPY RPVPSPHPPP LPLPPPPPPF SPQSLMVSCM SSNTLSGSTL RGSPNALLSS MTSSSNAALG PAMPYAPEKL PSPALTQQPQ FGPQSSILAN LMSSTIKTPQ GHLMSALPAS NPGPSPPYRP EKLSSPGLPQ QSFTPQCSLI RSLTPTSNLL SQQQQQQQQQ QQANVIFKPI SSNSSKTLSM IMQQGMASSS PGATEPFTFG NTKPLSHFVS EPGPQKMPSM PTTSRQPSLL HYLQQPTPTQ ASSATASSTA TATLQLQQQQ QQQQQQPDHS SFLLQQMMQQ PQRFQRSVAS DSMPALPRQG CCHLFAWTSA ASSVKPQHQH GNSFTSRQDP QPGDVSPSNI THVDKACKLG EARHPQVSLG RQPPSCQALG SESFLPGSSF AHELARVTSS YSTSEAAPWG SWDPKAWRQV PAPLLPSCDA TARGTEIRSY GNDP
  • 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：
    Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ.
  • 基因功能参考文献：
    1. Study provides evidence that MAMLD1 transcription is up-regulated in patients with 46,XX testicular and ovotesticular disorders of sex development. PMID: 27490115
    2. By direct sequencing of PCR products, we assessed and found mutations that occur in 220 sporadic cases of hypospadias. The mutation p.N589S (c.1766A>G) was found at a significantly higher rate among patients with hypospadias. PMID: 28199199
    3. occurrence of MAMDL1 gene polymorphisms, specially of c.2960C>T in 3' UTR of its exon 7 is associated with a higher risk of isolated hypospadias in Indian children, probably by lowering androgenic levels PMID: 26815876
    4. These results imply that the pathogenic events resulting from MAMLD1 mutations include splice errors. PMID: 25833151
    5. MAMLD1 sequence variations may not suffice to explain the phenotype in carriers and MAMLD1 may also have a role in adult life PMID: 26580071
    6. The single-nucleotide polymorphisms of MAMLD1 bear no obvious correlation with hypospadias, and MAMLD1 is not a candidate gene in its pathogenesis in the Chinese population. PMID: 22934520
    7. MAMLD1 mutations cause 46,XY disorders of sex development primarily because of compromised testosterone production around critical period for sex development; in addition, SNP in MAMLD1 may constitute a susceptibility factor for hypospadia. [REVIEW] PMID: 23044878
    8. Data suggest that MAMLD1 should be routinely sequenced in 46,XY disorders of sex development (DSD) patients with otherwise normal AR, SRD5A2 and NR5A1 genes. PMID: 22479329
    9. mutational analysis of the MAMLD1-gene in hypospadias PMID: 20347055
    10. The identification and genomic characterization of the F18 (MAMLD1) gene in human PMID: 9169146
    11. Deletion of the F18 (MAMLD1) and MTM1 genes in two patients with congenital myopathy and hypospadias PMID: 8789451
    12. identified three different nonsense mutations of CXorf6 in individuals with hypospadias PMID: 17086185
    13. CXorf6 transactivates the Hes3 promoter, augments testosterone production PMID: 18162467
    14. CXorf6 mutations are associated with isolated hypospadias of varying severity PMID: 18635673
    15. MAMLD1 mutations cause hypospadias primarily because of compromised testosterone production around the critical period of sex development, and provide useful information for the molecular network involved in fetal testosterone production.[review] PMID: 19339788

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  • 相关疾病：
    Hypospadias 2, X-linked (HYSP2)
  • 亚细胞定位：
    Nucleus. Note=Punctate nuclear localization.
  • 蛋白家族：
    Mastermind family
  • 组织特异性：
    Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin, testis, uterus. Highly expressed in skeletal muscle.
  • 数据库链接：

    HGNC: 2568

    OMIM: 300120

    KEGG: hsa:10046

    STRING: 9606.ENSP00000414517

    UniGene: Hs.20136