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  4. Recombinant Human ATP-binding cassette sub-family G member 5 (ABCG5)

Recombinant Human ATP-binding cassette sub-family G member 5 (ABCG5)

  • 货号：
    CSB-CF863956HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
  • Uniprot No.：
  • 别名：
    ABCG5; ATP-binding cassette sub-family G member 5; Sterolin-1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-651
  • 氨基酸序列
    MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSC RQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRAL RREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHV ADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDF YMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKD SPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRV GLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIA GVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMC AFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG8 has ATPase activity.
  • 基因功能参考文献：
    1. Case Report/Review: novel variants of the ABCG5 gene causing xanthelasmas and macrothrombocytopenia in sitosterolemia. PMID: 28696550
    2. Mutation-negative familial hypercholesterolemia subjects accumulate an excess of rare and common gene variations in ABCG5/G8 genes PMID: 29066094
    3. Case Reports: compound heterozygous for nonsense mutations in ABCG5 responsible for sitosterolemia. PMID: 28521186
    4. ABCG5 gene variants were not associated with cholelithiasis in patients with Gaucher disease type 1. PMID: 27981300
    5. Genetic variations in ABCG5, CYP7A1, and DHCR7 may contribute to differing responses of serum cholesterol to dairy intake among healthy adults. PMID: 27052530
    6. ABCG5 Gene Variants are associated with Sitosterolemia and Familial Mediterranean Fever. PMID: 27170062
    7. first case of a Mexican family with sitosterolemia carrying two new ABCG5 gene mutations PMID: 26892138
    8. Genetic polymorphism within the ABCG5 gene is a risk factor for diabetes. PMID: 26088706
    9. crystallization in lipid bilayers to determine the X-ray structure of human G5G8 in a nucleotide-free state at 3.9 A resolution, generating the first atomic model of an ABC sterol transporter PMID: 27144356
    10. ATP-binding cassette (ABC) transporters G5 (ABCG5) and G8 (ABCG8) form an obligate heterodimer that limits intestinal absorption and facilitates biliary secretion of cholesterol and phytosterols. PMID: 24252657
    11. ABCG5/8 variants are associated with susceptibility to coronary heart disease. PMID: 24691589
    12. Sitosterolemia is caused by a genetic defect of sterolins (ABCG5/ABCG8) mapped to the STSL locus. Polymorphic variations in STSL have been linked to lipid levels and gallstone disease PMID: 24811295
    13. HRD1 and RMA1 may therefore be negative regulators of disease-associated transporter ABCG5/ABCG8. PMID: 24584735
    14. No association of T400K and Y54C polymorphism with hepatic ABCG8/G5 mRNA expression. PMID: 24498041
    15. MI and gallstones, 2 seemingly unrelated diseases, are intrinsically linked via the function of the ABCG5/8 cholesterol transporter. PMID: 24657701
    16. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis. PMID: 24623560
    17. The evolutionary conserved region of ABCG5 were found to be responsive to the Liver-X-Receptor. PMID: 23790976
    18. ABCG5-R50C variant associated with cholesterol gallstone disease PMID: 22898925
    19. The sterol transporters ABCA1, ABCG5, and ABCG8 may play a role in the pathogenesis of human cholesterol related gallbladder diseases. PMID: 23179156
    20. The associations of four ABCG5/G8 single nucleotide polymorphisms and serum lipid levels are different between the Mulao and Han populations in China, or between males and females. PMID: 22655090
    21. A systematic review and meta-analysis of ABCG5 polymorphisms and association with markers of cholesterol metabolism. PMID: 20581104
    22. The effects of ABCG5/G8 polymorphisms on HDL-cholesterol concentrations depend on ABCA1 genetic variants. PMID: 19692220
    23. Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia PMID: 20172523
    24. an ABCG5-G8 haplotype, which included the rs6544718 T allele, was associated with higher HDLcholesterol plasma concentrations in women. PMID: 20170916
    25. five Chinese children from four separate families presented with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene PMID: 20521169
    26. Bile acids may promote an active conformation of purified ABCG5/G8 either by global stabilization of the transporter or by binding to a specific site on ABCG5/G8. PMID: 20210363
    27. ABCG5/G8 polymorphisms are not associated with reduction of serum lipids by soy or dietary fiber in hyperlipidemic Mexican subjects PMID: 19917453
    28. mutations in ATP-binding cassette proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia PMID: 11668628
    29. New mutations - R419H and IVS12+1G -->A. (Latter is splice site mutation.) PMID: 11855938
    30. In a sitosterolemia patient a novel heterozygous mutation has been found in exon 8 of the ABCG5 gene leading to a premature termination of the protein (Arg408Ter). PMID: 12124998
    31. several potential regulatory elements were found for the ABCG5 and ABCG8 genes, and the intergenic region was found to act as a bidirectional promoter PMID: 12150943
    32. Role of ABCG5 and ABCG8 in cholesterol secretion and absorption PMID: 12208868
    33. ABCG5 and ABCG8 function as obligate heterodimers to promote sterol excretion into bile PMID: 14504269
    34. in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDLC-lowering response to atorvastatin therapy PMID: 14703505
    35. LRH-1 is a positive transcription factor for ABCG5 and ABCG8 and, in conjunction with studies on LRH-1 activation of other promoters, identify LRH-1 as a "master regulator" for genes involved in sterol and bile acid secretion from liver and intestine PMID: 15121760
    36. ABCGG5 and ABCG8 are required to modulate biliary cholesterol secretion in response to cholate and diosgenin. PMID: 15611112
    37. MDR2 expression is required for ABCG5- and ABCG8-mediated biliary sterol secretion. Inactivation of MDR2 markedly attenuated the reduction in fractional sterol absorption associated with ABCG5, ABCG8 overexpression PMID: 15930516
    38. Strong relationship between ABCG5 and ABCG8 gene expression is consistent with the coordinate regulation of both genes and in line with heterodimerization of both proteins into a functional transporter. PMID: 16250035
    39. Two genes, ABCG5 and ABCG8, compose the sitosterolemia locus, and complete mutation in either, but not both, results in disease. PMID: 16472606
    40. In diabetic patients statin therapy is associated wiwth increased mRNA. PMID: 16518588
    41. ABCG5 polymorphism may play a role in the plasma response to dietary cholesterol and carotenoids. PMID: 16614398
    42. Purified ABCG5 and ABCG8 had very low ATPase activities, suggesting that the hetero-dimer is the catalytically active species, and likely the active species in vivo. PMID: 16893193
    43. Polymorphisms at the half-transporter ABCG5 and ABCG8 genes affect blood cholesterol concentrations in prepubertal children by influencing dietary responsiveness. PMID: 16980816
    44. biochemical and functional characterization of the ABCG5/ABCG8 proteins and their possible involvement in steroid hormone transport or regulation. PMID: 17055487
    45. Increased NPC1L1 and lower ABCG5 abd ABCG8 may lead to increased cholesterol and sitosterol in chylomicron particles in diabetic patients. PMID: 17102949
    46. Cooperative interaction between HNF4A and GATA4 and GATA6 regulates ABCG5 and ABCG8. PMID: 17403900
    47. results indicate that ABCG5/G8, unlike ABCA1, together with bile acids should participate in sterol efflux on the apical surface of Caco-2 cells. PMID: 17690481
    48. changes in cholesterol metabolism after weight loss were affected by single nucleotide polymorphisms (SNPs) in ABCG5 PMID: 17827468
    49. Upregulation of ABCG5/ABCG8 in gallstone patients, possibly mediated by increased liver X receptor (LXR) alpha, may contribute to the cholesterol supersaturation of bile, a prerequisite for gallstone formation. PMID: 18007013
    50. Carriers of ABCG5 604Q or ABCG8 D19H polymorphisms have an increased risk of gallstone disease independent of age, sex and body mass index. PMID: 18457353

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  • 相关疾病：
    Sitosterolemia (STSL)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    ABC transporter superfamily, ABCG family, Eye pigment precursor importer (TC 3.A.1.204) subfamily
  • 组织特异性：
    Strongly expressed in the liver, lower levels in the small intestine and colon.
  • 数据库链接：

    HGNC: 13886

    OMIM: 210250

    KEGG: hsa:64240

    STRING: 9606.ENSP00000260645

    UniGene: Hs.132992