Recombinant Human Bile Salt Export Pump (ABCB11) Protein (His)

Name: Recombinant Human Bile Salt Export Pump (ABCB11) Protein (His)
Brand: Beta LifeScience
SKU: BLC-07298P
Price: 349.0 USD
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

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100ug

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Product Overview

Description	Recombinant Human Bile Salt Export Pump (ABCB11) Protein (His) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	O95342
Target Symbol	ABCB11
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His
Target Protein Sequence	RAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMIDGHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDFVMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALDKAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPIS
Expression Range	1033-1321aa
Protein Length	Partial
Mol. Weight	35.8 kDa
Research Area	Cancer
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner. Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts. Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion.
Subcellular Location	Apical cell membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Endosome. Cell membrane; Multi-pass membrane protein.
Protein Families	ABC transporter superfamily, ABCB family, Multidrug resistance exporter (TC 3.A.1.201) subfamily
Database References	HGNC: 42 OMIM: 601847 KEGG: hsa:8647 STRING: 9606.ENSP00000263817 UniGene: Hs.158316
Associated Diseases	Cholestasis, progressive familial intrahepatic, 2 (PFIC2); Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)
Tissue Specificity	Expressed predominantly, if not exclusively in the liver, where it was further localized to the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by in situ.

Gene Functions References

We concluded that Egyptian patients having chronic hepatitis C genotype 4 with CC genotype of ABCB11 SNP 1331T>C and high plasma bile acid levels at cutoff value of 75.5 mumol/L were associated with advanced hepatic fibrosis. PMID: 29755014
The overrepresentation of mutated variants of the 1331T > C ABCB11 polymorphism in the ICP group suggests its contribution to the etiology of the intrahepatic cholestasis of pregnancy. Analysis of genotypes' co-existence pointed to the possibility of the mutated variants of polymorphism 1954A > G ABCB4 and 1331T > C ABCB11 having a summation effect on the development ofintrahepatic cholestasis of pregnancy PMID: 30091450
These data demonstrated that c.386G>A (p.C129Y) in ABCB11 was a causative mutation that correlated with the phenotype of patients with PFIC2, the impairment of biliary excretion into bile canaliculi, and the absence of canalicular BSEP expression in liver histological assessments. PMID: 29507376
FIC1, BSEP, and MDR3 represent hepatobiliary transport proteins essential for bile formation. PMID: 28733223
This is the first report on a diagnostic test for simultaneous genotyping of IFNL3, ABCB11, and RNF7 in Chronic hepatitis C (CHC) patients. Reliable and inexpensive, the assay should provide useful information for the clinical management of CHC, like identification of patients at risk of rapid disease progression or with high chances of response to classic therapy. PMID: 28860020
Residual function of BSEP as well as substrate specificity influence the therapeutic effectiveness of partial external biliary diversion in progressive familial intrahepatic cholestasis type 2. PMID: 28839429
Study suggested that the CC genotype of rs2287616 variant of ABCB11 gene might contribute to anti-tuberculosis drug-induced cholestatic liver injury in Chinese patients. PMID: 27293027
Case Report: compound heterozygotes for two missense mutations of the ABCB11 with a mild form of progressive familial intrahepatic cholestasis type 2. PMID: 28425419
Patients with a confirmed ABCB11 or tight junction protein 2 gene mutation (n = 7) had a minimally detectable THBA proportion (0.23-2.99% of total BAs). Three patients with an ATP8B1 mutation had an elevated THBA proportion (7.51-37.26%). PMID: 28073941
By these complementary approaches, a set of ten novel BSEP interaction partners was identified. With the exception of radixin, all other interaction partners were integral or membrane-associated proteins including proteins of the early secretory pathway and the bile acyl-CoA synthetase, the second to last, ER-associated enzyme of bile salt synthesis PMID: 27472061
Report ABAB11 missense mutations in Korean infants with progressive familial intrahepatic cholestasis. PMID: 27239116
Among the Han individuals aged over 40 years in Hunan, China, genotype CC or CT of BSEP gene SNP rs2287622 may correlate with higher risk of chronic hepatitis C in comparison with genotype TT. PMID: 28292275
Case Reports: late onset progressive familial intrahepatic cholestasis 2 secondary to novel ABCB11 mutations. PMID: 27493120
Negative immunoreaction of BSEP was found in the majority of the progressive familial intrahepatic cholestasis (PFIC) group. Nonetheless, the negative immunoreaction was demonstrated in a considerable number of the non-PFIC group.BSEP immunoreaction was negative in the majority (82.4%) of PFIC2 but in none of the two patients with PFIC1. PMID: 26845599
The results revealed that functional impairment of BSEP predisposes the cells to altered BA disposition and is a susceptive factor to drug-induced cholestatic injury. PMID: 26910619
Results identified six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) for the diagnostic of inherited infantile cholestatic disorders. PMID: 25771912
Report highly specific expression of BSEP and MDR3 in hepatocellular carcinoma. PMID: 26735860
GGT levels in patients with ATP8B1 or ABCB11 deficiency varied with age. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month and <50U/L beyond one year PMID: 27050426
methods that can be used to assess and quantify BSEP inhibition, and key gaps in our current understanding of the relationship between this process and DILI, are discussed PMID: 25104267
Liver nuclear receptors, FXR and SHP, and bile acid transporters, NTCP and BSEP, are associated with the progression of NAFLD. PMID: 26019035
ABCB11 444A had slightly reduced transport activity. PMID: 25713208
Similar molecular features between MRP4 and BSEP inhibitors may partially explain why various drugs have affinity for both transporters. PMID: 25735837
In malignant tumours in the liver, BSEP marking was 100% specific and 90% sensitive for hepatocellular carcinoma. PMID: 25378077
The aim of this study was the evaluation of some single nucleotide polymorphisms of genes (ABCB1, SLC28A2/3, SLC29A1) involved in telaprevir (TLV) and ribavirin transport and their correlation with plasma TLV drug exposure at 1 month of therapy. PMID: 25661339
Aberrant splicing of ABCB11 in the liver of progressive familial intrahepatic cholestasis type 2 patients. PMID: 25085279
Variants of ABCB11 were not associated with bosentan-induced liver injury. PMID: 25332267
analysis of mutations in ABCB11 gene in children with intrahepatic cholestasis PMID: 24969679
BSEP rs473351 was closely associated with the susceptibility of primary biliary cirrhosis and resistance to ursodeoxycholic acid treatment. PMID: 25392597
expression in hepatocytes repressed by estradiol PMID: 24729004
Our data suggest that in addition to functional inhibition, repression of bile salt export pump expression may play an important role in drug-induced cholestatic liver toxicity. PMID: 24335466
Patients carrying the C allele in the ABCB11 1331T>C polymorphism are at increased risk of developing hepatocellular type of DILI, when taking drugs containing a carbocyclic system with aromatic rings PMID: 23701583
Cholesterol increases the transport rates of ABCB11 and ABCC2, but with the latter, may also modify the binding site as for E17betaG PMID: 24711118
The novel missense mutation G374S impairs transport function without disabling membrane localization of BSEP, causing a transitional phenotype between benign recurrent and progressive familial intrahepatic cholestasis . PMID: 23758865
FXR regulates BSEP in an isoform-dependent and species-specific manner PMID: 24002920
The introduction of a Y1311A mutation into BSEP. PMID: 24378332
Six single nucleotide polymorphisms in ABCB11 that showed significant evidence of association were identified. PMID: 24366234
Case Report: suggest contribution of ATP8B1 mutations to drug-induced liver injury from anabolic androgenic steroids marketed as dietary supplements. PMID: 23750872
This review describes the molecular characteristics and physiological roles of BSEP, the trafficking and sorting machinery of BSEP, and the mechanisms responsible for disturbance of BSEP, which causes intrahepatic cholestasis. [review] PMID: 23876151
Approximately 3% of TNC cases can be attributed to ABCB11 mutations. PMID: 23279303
Inhibition of Bsep mRNA expression is regulated by loss of T cells but not B cells, in immune-mediated liver disease. PMID: 23929842
Genotyping of Italian women revealed 3 novel variants of ABCB11 (p.V284D, p.Q558H, p.P731S) associated with intrahepatic cholestasis of pregnancy. PMID: 23022423
Troglitazone specifically inhibits human MRP2 and BSEP in PXB mouse chimeric liver. PMID: 22673116
The data confirmed that homozygous presence of the major [C] allele of ABCB11 c.1331 T>C is a genetic susceptibility factor for hepatitis C infection, but not for liver fibrosis. PMID: 22681771
constitutive internalization of BSEP is clathrin-mediated and dependent on the tyrosine-based endocytic motif at the C-terminal end of BSEP. PMID: 22161577
Patients undergoing partial hepatectomy with low post-operative bilirubin had lower levels of NTCP, MDR3 and BSEP mRNA compared to those with high bilirubin after Pringle manoeuvre. PMID: 22098322
The higher allelic frequency of ABCB11 1331C in HCV-patients compared to controls may indirectly link increased bile acids to hepatitis C virus chronicity. PMID: 20723035
Here we report the first case of a patient with combined hereditary spherocytosis and compound heterozygous ABCB11 gene variants predisposing to intrahepatic cholestasis PMID: 21811948
A spectrum of BSEP-dependent effects on the course of liver diseases, and two mutations that differentially affect total bile acid output and the biliary bile acid profile, are described. PMID: 21691112
Sequencing of the ABCB11 gene revealed two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family. PMID: 21766090
Mutations ending ABCB11 transcription appear linked, through hepatocellular necrosis and fibrosis, to worse outcome PMID: 21490445

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