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  4. Recombinant Human 3-oxo-5-beta-steroid 4-dehydrogenase (AKR1D1)

Recombinant Human 3-oxo-5-beta-steroid 4-dehydrogenase (AKR1D1)

  • 货号：
    CSB-YP001548HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP001548HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP001548HU-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-BP001548HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP001548HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    AKR1D1
  • Uniprot No.：
  • 别名：
    3-oxo-5-beta-steroid 4-dehydrogenase; 3o5bred ; AK1D1_HUMAN; AKR1D1; aldo keto reductase family 1 member D1 (delta 4 3 ketosteroid 5 beta reductase); Aldo keto reductase family 1 member D1; Aldo-keto reductase family 1 member D1; CBAS2 ; Delta(4) 3 ketosteroid 5 beta reductase; Delta(4) 3 oxosteroid 5 beta reductase; Delta(4)-3-ketosteroid 5-beta-reductase; Delta(4)-3-oxosteroid 5-beta-reductase; SRD5B1; steroid 5 beta reductase beta polypeptide 1 (3 oxo 5 beta steroid delta 4 dehydrogenase beta 1); steroid 5 beta reductase
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-326
  • 氨基酸序列
    MDLSAASHRI PLSDGNSIPI IGLGTYSEPK STPKGACATS VKVAIDTGYR HIDGAYIYQN EHEVGEAIRE KIAEGKVRRE DIFYCGKLWA TNHVPEMVRP TLERTLRVLQ LDYVDLYIIE VPMAFKPGDE IYPRDENGKW LYHKSNLCAT WEAMEACKDA GLVKSLGVSN FNRRQLELIL NKPGLKHKPV SNQVECHPYF TQPKLLKFCQ QHDIVITAYS PLGTSRNPIW VNVSSPPLLK DALLNSLGKR YNKTAAQIVL RFNIQRGVVV IPKSFNLERI KENFQIFDFS LTEEEMKDIE ALNKNVRFVE LLMWRDHPEY PFHDEY
  • 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：
    Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-(4)-3-ketosteroids from C18 (such as, 17beta-hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3-one).
  • 基因功能参考文献：
    1. infant proved to be a compound heterozygote of the AKR1D1 variants c.579+2delT and c.853C>T(p.Q285X), two novel mutations originated from his mother and father, respectively PMID: 28697823
    2. Impaired NADPH binding and hydride transfer is the molecular basis for bile acid deficiency in patients with the P133R mutation in AKR1D1. PMID: 26418565
    3. When different steroid substrates were used in single turnover experiments with AKR1D1. PMID: 25500266
    4. AKR1D1 generates all 5beta-dihydrosteroids in the C19-C27 steroid series. PMID: 24513054
    5. Despite having high kchem values with steroid hormones, the kinetic control of AKR1D1 is consistent with the enzyme catalysing the slowest step in the catabolic sequence of steroid hormone transformation in the liver. PMID: 24894951
    6. Studies indicate that mutations in aldo-keto reductase family 1 (AKR1) enzymes AKR1C1 and AKR1C4 are responsible for sexual development dysgenesis and mutations in AKR1D1 are causative in bile-acid deficiency. PMID: 24189185
    7. Novel homozygous frameshift mutations in the AKR1D1 gene and in the SKIV2L gene were found in a family with severe infantile liver disease. PMID: 23679950
    8. Consistent with AKR1D1's putative role as a driver of the P450 subnetwork, the AKR1D1 3'-UTR SNP was significantly associated with increased hepatic mRNA expression of multiple P450s PMID: 23704699
    9. These studies show how a single point mutation in AKR1D1 can introduce HSD activity with unexpected configurational and stereochemical preference. PMID: 22437839
    10. all five mutations identified in patients with functional bile acid deficiency strongly affected AKR1D1 enzyme functionality and therefore may be causal for this disease PMID: 21185810
    11. determined the substrate specificity of homogeneous human recombinant AKR1D1 using C18, C19, C21, and C27 Delta(4)-ketosteroids and assessed the pH-rate dependence of the enzyme. PMID: 21255593
    12. analysis of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency PMID: 20522910
    13. In placenta and myometrium, relative expression decreased significantly in association with labour, by about two-fold and 10-fold, respectively. These data are consistent with a possible role for 5betaDHP in the onset of spontaneous human labour. PMID: 16123077
    14. analysis of human liver Delta4-3-ketosteroid 5beta-reductase (AKR1D1) crystal structure and implications for substrate binding and catalysis PMID: 18407998
    15. The structures of an AKR1D1-NADP(+) binary complex, and AKR1D1-NADP(+)-cortisone, AKR1D1-NADP(+)-progesterone and AKR1D1-NADP(+)-testosterone ternary complexes at high resolutions, is reported. PMID: 18848863
    16. Structure determination of human AKR1C4 and homology modelling of AKR1D1 followed by docking experiments were used to explore active site geometries. PMID: 19013211
    17. Delta4-3-ketosteroid 5beta-reductase (AKR1D1) has an alternative binding site responsible for substrate inhibition PMID: 19075558
    18. SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. PMID: 19175828

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  • 相关疾病：
    Congenital bile acid synthesis defect 2 (CBAS2)
  • 亚细胞定位：
    Cytoplasm.
  • 蛋白家族：
    Aldo/keto reductase family
  • 组织特异性：
    Highly expressed in liver. Expressed in testis and weakly in colon.
  • 数据库链接：

    HGNC: 388

    OMIM: 235555

    KEGG: hsa:6718

    STRING: 9606.ENSP00000242375

    UniGene: Hs.201667