ABCB4

From Wikipedia, the free encyclopedia

ATP-binding cassette, sub-family B (MDR/TAP), member 4

Identifiers

ABCB4; ABC21; MDR2/3; MDR3; PFIC-3; PGY3

External IDs

OMIM: 171060 MGI: 97569 HomoloGene: 56421

Gene ontology
Molecular Function:	• nucleotide binding • ATP binding • xenobiotic-transporting ATPase activity • hydrolase activity • ATPase activity • ATPase activity, coupled to transmembrane movement of substances
Cellular Component:	• cellular_component • membrane fraction • integral to plasma membrane • membrane • integral to membrane
Biological Process:	• lipid metabolic process • transport • response to xenobiotic stimulus • response to drug

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000443 (mRNA)
NP_000434 (protein)

NM_008830 (mRNA)
NP_032856 (protein)

Location

Chr 7: 86.87 - 86.94 Mb

Chr 5: 8.9 - 8.97 Mb

Pubmed search

[1]

[2]

ATP-binding cassette, sub-family B (MDR/TAP), member 4, also known as ABCB4, is a human gene.^[1] ABCB4 is associated with progressive familial intrahepatic cholestasis type 3.

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function.^[1]

[edit] References

^ ^a ^b Entrez Gene: ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4.

[edit] Further reading

Rosmorduc O, Poupon R (2007). "Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.". Orphanet journal of rare diseases 2: 29. doi:10.1186/1750-1172-2-29. PMID 17562004.
Mbongo-Kama E, Harnois F, Mennecier D, et al. (2007). "MDR3 mutations associated with intrahepatic and gallbladder cholesterol cholelithiasis: an update.". Annals of hepatology : official journal of the Mexican Association of Hepatology 6 (3): 143–9. PMID 17786139.
Lincke CR, Smit JJ, van der Velde-Koerts T, Borst P (1991). "Structure of the human MDR3 gene and physical mapping of the human MDR locus.". J. Biol. Chem. 266 (8): 5303–10. PMID 2002063.
Van der Bliek AM, Baas F, Ten Houte de Lange T, et al. (1988). "The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver.". EMBO J. 6 (11): 3325–31. PMID 2892668.
van der Bliek AM, Kooiman PM, Schneider C, Borst P (1989). "Sequence of mdr3 cDNA encoding a human P-glycoprotein.". Gene 71 (2): 401–11. PMID 2906314.
Callen DF, Baker E, Simmers RN, et al. (1987). "Localization of the human multiple drug resistance gene, MDR1, to 7q21.1.". Hum. Genet. 77 (2): 142–4. PMID 3477522.
Smit JJ, Schinkel AH, Mol CA, et al. (1994). "Tissue distribution of the human MDR3 P-glycoprotein.". Lab. Invest. 71 (5): 638–49. PMID 7734012.
Smit JJ, Mol CA, van Deemter L, et al. (1995). "Characterization of the promoter region of the human MDR3 P-glycoprotein gene.". Biochim. Biophys. Acta 1261 (1): 44–56. PMID 7893760.
Whitington PF, Freese DK, Alonso EM, et al. (1994). "Clinical and biochemical findings in progressive familial intrahepatic cholestasis.". J. Pediatr. Gastroenterol. Nutr. 18 (2): 134–41. PMID 7912266.
Ruetz S, Gros P (1994). "Phosphatidylcholine translocase: a physiological role for the mdr2 gene.". Cell 77 (7): 1071–81. PMID 7912658.
Smit JJ, Schinkel AH, Oude Elferink RP, et al. (1993). "Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease.". Cell 75 (3): 451–62. PMID 8106172.
van Helvoort A, Smith AJ, Sprong H, et al. (1996). "MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine.". Cell 87 (3): 507–17. PMID 8898203.
de Vree JM, Jacquemin E, Sturm E, et al. (1998). "Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.". Proc. Natl. Acad. Sci. U.S.A. 95 (1): 282–7. PMID 9419367.
Malorni W, Lucia MB, Rainaldi G, et al. (1998). "Intracellular expression of P-170 glycoprotein in peripheral blood mononuclear cell subsets from healthy donors and HIV-infected patients.". Haematologica 83 (1): 13–20. PMID 9542318.
Jacquemin E, Cresteil D, Manouvrier S, et al. (1999). "Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy.". Lancet 353 (9148): 210–1. PMID 9923886.
Dixon PH, Weerasekera N, Linton KJ, et al. (2000). "Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.". Hum. Mol. Genet. 9 (8): 1209–17. PMID 10767346.
Rosmorduc O, Hermelin B, Poupon R (2001). "MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.". Gastroenterology 120 (6): 1459–67. PMID 11313316.
Jacquemin E (2002). "Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases.". Semin. Liver Dis. 21 (4): 551–62. doi:10.1055/s-2001-19033. PMID 11745043.
Eloranta ML, Heiskanen JT, Hiltunen MJ, et al. (2003). "Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.". Eur. J. Obstet. Gynecol. Reprod. Biol. 104 (2): 109–12. PMID 12206920.
Eloranta ML, Heiskanen JT, Hiltunen MJ, et al. (2003). "Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.". Eur. J. Obstet. Gynecol. Reprod. Biol. 105 (2): 132–5. PMID 12381474.

[edit] External links

MeSH ABCB4+protein,+human

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v • d • e Membrane proteins, carrier proteins: membrane transport proteins

ABC-transporter	A1, A2, A3, A4, A7, A8, A12, B1 B2-3, B2, B3, B4, B5, B6, B7, B9, B11 C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11 D1, D2, D3, D4, E1, F1, F2 G1, G2, G4, Sterolin (G5, G8)

Solute carrier	1A1-7, 1A1, 1A2, 1A3, 1A4, 1A5, 2A1, 2A2, 2A3, 2A4, 2A5, 2A6, 2A8, 2A9, 2A10, 2A12, 3A1, 3A2, 4A1, 4A2, 4A3, 4A4, 4A5, 4A7, 4A8, 4A11, 5A1-2, 5A1, 5A3, 5A5, 5A8, 6A1, 6A2, 6A3, 6A4, 6A5, 6A8, 6A9, 6A19, 7A1, 7A2, 7A3, 7A4, 7A5, 7A7, 7A8, 7A9, 7A11, 8A1-3, 9A1, 9A2, 9A3, 9A3R1, 9A3R2, 9A5, 9A6, 9A8, 10A1, 10A2, 10A3, 10A7, 11A1, 11A2, 11A3, 12A1-2, 12A3, 12A4, 12A5, 12A6, 12A7, 14A1, 13A3, 14A2, 15A1, 15A2, 16A1, 16A2, 16A3, 16A4, 17A1, 17A5, 17A6-8, 17A7, 18A1, 18A2, 18A3, 19A1, 19A2, 19A3, 20A1, 20A2, 22A1, 22A2, 22A3, 22A4, 22A5, 22A6, 22A7, 22A9, 22A11, 22A12, 22A18, 23A1, 23A2, 24A1-2, 24A5, 25A1, 25A3, 25A4, 25A4-6, 25A8, 25A10, 25A11, 25A12, 25A13, 25A14, 25A15, 25A17, 25A19, 25A20, 25A27, 25A31, 25A37, 25A39, 26A2, 26A3, 26A4, 26A5, 26A6, 26A7, 26A8, 27A1, 27A2, 27A3, 27A4, 28A1, 28A2, 29A1, 29A2, 29A4, 30A4, 30A7, 30A8, 31A1, 31A2, 32A1, 34A1, 34A2, 34A3, 35A1, 35A2, 35B2, 35B4, 35C1, 36A1, 37A4, 38A2, 38A3, 39A1, 39A2, 39A3, 39A4, 39A6, 39A7, 40A1, 43A1 44A1, 44A2, 44A4, 45A2, O1A2, O1B1, O1B3, O2B1, O431, O4A1

Monosaccharide	GLUT1, GLUT2, GLUT3, GLUT4, GLUT5, GLUT6, GLUT8, GLUT9

Other	Amino acid (CD98) - Fatty acid (CD36) - Ion channels - Ion pumps - Mitochondrial membrane transport protein - Neurotransmitter transport proteins - Nuclear (Importin, Karyopherin)