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3.A.1.201.3
Short chain fatty acid phosphatidylcholine translocase (phospholipid flippase), MDR3; AbcB4; Pgy3 (associated with progressive familial intrahepatic cholestasis type 3 (PFIC3) (Degiorgio et al. 2007) and progressive intrafamilial hepatic disease (Quazi and Molday, 2011)). ABCB4 exhibits narrow drug specificity relative to MDR1. Exports digoxin, paclitaxel, vinblastin and bile acids). ABCB4 regulates phosphatidylcholine secretion into bile and its translocation across the plasma membrane in hepatocytes (Voloshyna and Reiss, 2011; Kluth et al. 2014).

Accession Number:P21439
Protein Name:MDR3 aka PGY3 aka ABCB4
Length:1286
Molecular Weight:141523.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Cell membrane1 / Multi-pass membrane protein2
Substrate Short-chain fatty acids, Phosphatidylcholine

Cross database links:

Genevestigator: P21439
eggNOG: prNOG19542
HEGENOM: HBG758042
RefSeq: NP_000434.1    NP_061337.1   
Entrez Gene ID: 5244   
Pfam: PF00664    PF00005   
OMIM: 147480  phenotype
171060  gene
600803  phenotype
602347  phenotype
KEGG: hsa:5244   

Gene Ontology

GO:0005887 C:integral to plasma membrane
GO:0005624 C:membrane fraction
GO:0005524 F:ATP binding
GO:0008559 F:xenobiotic-transporting ATPase activity
GO:0006629 P:lipid metabolic process
GO:0042493 P:response to drug
GO:0055085 P:transmembrane transport

References (15)

[1] “Sequence of mdr3 cDNA encoding a human P-glycoprotein.”  van der Bliek A.M.et.al.   2906314
[2] “Human chromosome 7: DNA sequence and biology.”  Scherer S.W.et.al.   12690205
[3] “Characterization of the promoter region of the human MDR3 P-glycoprotein gene.”  Smit J.J.et.al.   7893760
[4] “The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver.”  van der Bliek A.M.et.al.   2892668
[5] “Structure of the human MDR3 gene and physical mapping of the human MDR locus.”  Lincke C.R.et.al.   2002063
[6] “Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.”  de Vree J.M.L.et.al.   9419367
[7] “Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.”  Dixon P.H.et.al.   10767346
[8] “The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.”  Jacquemin E.et.al.   11313315
[9] “MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.”  Rosmorduc O.et.al.   11313316
[10] “A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.”  Lucena J.-F.et.al.   12671900
[11] “ABCB4 gene mutation-associated cholelithiasis in adults.”  Rosmorduc O.et.al.   12891548
[12] “ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.”  Muellenbach R.et.al.   12746424
[13] “Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.”  Pauli-Magnus C.et.al.   15077010
[14] “Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).”  Lang T.et.al.   16763017
[15] “Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.”  Lang C.et.al.   17264802

External Searches:

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  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG 
61:	TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY 
121:	SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD 
181:	ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA 
241:	FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS 
301:	MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA 
361:	RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ 
421:	SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV 
481:	LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR 
541:	IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI 
601:	AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS 
661:	RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA 
721:	NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG 
781:	EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA 
841:	NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI 
901:	ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA 
961:	YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY 
1021:	SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ 
1081:	LLERFYDPLA GTVFVDFGFQ LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG 
1141:	DNSRVVSQDE IVSAAKAANI HPFIETLPHK YETRVGDKGT QLSGGQKQRI AIARALIRQP 
1201:	QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV VFQNGRVKEH 
1261:	GTHQQLLAQK GIYFSMVSVQ AGTQNL