P08183 (MDR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Multidrug resistance protein 1
EC=3.6.3.44

Alternative name(s):
ATP-binding cassette sub-family B member 1
P-glycoprotein 1
CD_antigen=CD243

Gene names

Name:	ABCB1
Synonyms:	MDR1, PGY1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1280 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells.
Catalytic activity	ATP + H2O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out).
Subunit structure	Interacts with PSMB5. Ref.10
Subcellular location	Cell membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Expressed in liver, kidney, small intestine and brain.
Polymorphism	Genetic variation in ABCB1 may play a role in patients who do not respond to drug treatment.
Involvement in disease	Inflammatory bowel disease 13 (IBD13) [MIM:612244]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.21
Sequence similarities	Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. [View classification] Contains 2 ABC transmembrane type-1 domains. Contains 2 ABC transporter domains.
Sequence caution	The sequence AAM49149.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G2/M transition of mitotic cell cycle Inferred from direct assay PubMed 19384922. Source: DFLAT drug transmembrane transport Traceable author statement. Source: Reactome stem cell proliferation Inferred from mutant phenotype PubMed 19384922. Source: DFLAT xenobiotic transport Inferred from electronic annotation. Source: GOC
Cellular_component	Golgi membrane Inferred from Biological aspect of Ancestor. Source: RefGenome apical plasma membrane Inferred from Biological aspect of Ancestor. Source: RefGenome cell surface Inferred from direct assay PubMed 19384922. Source: DFLAT integral component of membrane Inferred from Biological aspect of Ancestor. Source: RefGenome intercellular canaliculus Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	ATP binding Traceable author statement PubMed 3768958. Source: ProtInc ATPase activity, coupled to transmembrane movement of substances Inferred from Biological aspect of Ancestor. Source: RefGenome xenobiotic-transporting ATPase activity Inferred from electronic annotation. Source: UniProtKB-EC
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
LAPTM4B	Q86VI4	2	EBI-1057359,EBI-3267258
RNF2	Q99496	2	EBI-1057359,EBI-722416

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1280	1280	Multidrug resistance protein 1		PRO_0000093332
Regions
	Topological domain	1 – 44	44	Cytoplasmic By similarity
	Transmembrane	45 – 67	23	Helical; Potential
	Topological domain	68 – 116	49	Extracellular By similarity
	Transmembrane	117 – 137	21	Helical; Potential
	Topological domain	138 – 186	49	Cytoplasmic By similarity
	Transmembrane	187 – 208	22	Helical; Potential
	Topological domain	209 – 215	7	Extracellular By similarity
	Transmembrane	216 – 236	21	Helical; Potential
	Topological domain	237 – 292	56	Cytoplasmic By similarity
	Transmembrane	293 – 316	24	Helical; Potential
	Topological domain	317 – 330	14	Extracellular By similarity
	Transmembrane	331 – 352	22	Helical; Potential
	Topological domain	353 – 711	359	Cytoplasmic By similarity
	Transmembrane	712 – 732	21	Helical; Potential
	Topological domain	733 – 756	24	Extracellular By similarity
	Transmembrane	757 – 777	21	Helical; Potential
	Topological domain	778 – 832	55	Cytoplasmic By similarity
	Transmembrane	833 – 853	21	Helical; Potential
	Topological domain	854	1	Extracellular By similarity
	Transmembrane	855 – 874	20	Helical; Potential
	Topological domain	875 – 934	60	Cytoplasmic By similarity
	Transmembrane	935 – 957	23	Helical; Potential
	Topological domain	958 – 973	16	Extracellular By similarity
	Transmembrane	974 – 995	22	Helical; Potential
	Topological domain	996 – 1280	285	Cytoplasmic By similarity
	Domain	51 – 357	307	ABC transmembrane type-1 1
	Domain	392 – 628	237	ABC transporter 1
	Domain	711 – 1000	290	ABC transmembrane type-1 2
	Domain	1035 – 1273	239	ABC transporter 2
	Nucleotide binding	427 – 434	8	ATP 1 By similarity
	Nucleotide binding	1070 – 1077	8	ATP 2 By similarity
Amino acid modifications
	Modified residue	660	1	Phosphoserine By similarity
	Glycosylation	91	1	N-linked (GlcNAc...) Potential
	Glycosylation	94	1	N-linked (GlcNAc...) Potential
	Glycosylation	99	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	17	1	F → L. Ref.4 Corresponds to variant rs28381804 [ dbSNP | Ensembl ].		VAR_022276
	Natural variant	21	1	N → D. Ref.4 Ref.5 Ref.15 Ref.16 Ref.17 Corresponds to variant rs9282564 [ dbSNP | Ensembl ].		VAR_014704
	Natural variant	44	1	N → S. Corresponds to variant rs1202183 [ dbSNP | Ensembl ].		VAR_055423
	Natural variant	80	1	A → E. Corresponds to variant rs9282565 [ dbSNP | Ensembl ].		VAR_055424
	Natural variant	103	1	F → L Rare polymorphism. Ref.16		VAR_015001
	Natural variant	108	1	E → K. Ref.18		VAR_018351
	Natural variant	185	1	G → V in a colchicine-selected multidrug-resistant cell line; confers increased resistance to colchicine. Ref.1 Ref.3 Ref.13 Corresponds to variant rs1128501 [ dbSNP | Ensembl ].		VAR_015002
	Natural variant	261	1	I → V. Corresponds to variant rs36008564 [ dbSNP | Ensembl ].		VAR_055425
	Natural variant	400	1	S → N. Ref.4 Ref.16 Ref.17 Corresponds to variant rs2229109 [ dbSNP | Ensembl ].		VAR_015003
	Natural variant	566	1	E → K. Ref.4 Corresponds to variant rs28381902 [ dbSNP | Ensembl ].		VAR_022277
	Natural variant	593	1	R → C. Ref.4 Corresponds to variant rs28381914 [ dbSNP | Ensembl ].		VAR_022278
	Natural variant	599	1	A → T. Corresponds to variant rs2235036 [ dbSNP | Ensembl ].		VAR_055426
	Natural variant	669	1	R → C. Corresponds to variant rs35023033 [ dbSNP | Ensembl ].		VAR_055427
	Natural variant	801	1	V → M. Corresponds to variant rs2235039 [ dbSNP | Ensembl ].		VAR_055428
	Natural variant	829	1	I → V. Corresponds to variant rs2032581 [ dbSNP | Ensembl ].		VAR_055429
	Natural variant	836	1	I → V. Ref.4 Corresponds to variant rs28381967 [ dbSNP | Ensembl ].		VAR_022279
	Natural variant	887	1	K → N in a colorectal cancer sample; somatic mutation. Ref.23		VAR_035737
	Natural variant	893	1	S → A Common allele; associated with susceptibility to IBD13; has decreased enzyme activity. Ref.1 Ref.2 Ref.3 Ref.4 Ref.14 Ref.17 Ref.20 Ref.21 Corresponds to variant rs2032582 [ dbSNP | Ensembl ].		VAR_013361
	Natural variant	893	1	S → T Rare allele. Ref.17 Ref.20 Ref.21 Corresponds to variant rs2032582 [ dbSNP | Ensembl ].		VAR_013362
	Natural variant	986	1	M → V.		VAR_018352
	Natural variant	999	1	A → T. Ref.14		VAR_015004
	Natural variant	1051	1	P → A. Ref.4 Corresponds to variant rs28401798 [ dbSNP | Ensembl ].		VAR_022280
	Natural variant	1107	1	Q → P. Ref.17 Corresponds to variant rs55852620 [ dbSNP | Ensembl ].		VAR_015005
	Natural variant	1141	1	S → T. Ref.4 Corresponds to variant rs2229107 [ dbSNP | Ensembl ].		VAR_022281
	Natural variant	1251	1	V → I. Ref.4 Ref.19 Corresponds to variant rs28364274 [ dbSNP | Ensembl ].		VAR_018353
Experimental info
	Sequence conflict	23	1	S → R in CAA41558. Ref.8
	Sequence conflict	336	1	Missing in AAB69423. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P08183 [UniParc]. Last modified May 26, 2009. Version 3. Checksum: F0230744AB288C73	FASTA	1,280	141,479
	10 20 30 40 50 60 MDLEGDRNGG AKKKNFFKLN NKSEKDKKEK KPTVSVFSMF RYSNWLDKLY MVVGTLAAII 70 80 90 100 110 120 HGAGLPLMML VFGEMTDIFA NAGNLEDLMS NITNRSDIND TGFFMNLEED MTRYAYYYSG 130 140 150 160 170 180 IGAGVLVAAY IQVSFWCLAA GRQIHKIRKQ FFHAIMRQEI GWFDVHDVGE LNTRLTDDVS 190 200 210 220 230 240 KINEGIGDKI GMFFQSMATF FTGFIVGFTR GWKLTLVILA ISPVLGLSAA VWAKILSSFT 250 260 270 280 290 300 DKELLAYAKA GAVAEEVLAA IRTVIAFGGQ KKELERYNKN LEEAKRIGIK KAITANISIG 310 320 330 340 350 360 AAFLLIYASY ALAFWYGTTL VLSGEYSIGQ VLTVFFSVLI GAFSVGQASP SIEAFANARG 370 380 390 400 410 420 AAYEIFKIID NKPSIDSYSK SGHKPDNIKG NLEFRNVHFS YPSRKEVKIL KGLNLKVQSG 430 440 450 460 470 480 QTVALVGNSG CGKSTTVQLM QRLYDPTEGM VSVDGQDIRT INVRFLREII GVVSQEPVLF 490 500 510 520 530 540 ATTIAENIRY GRENVTMDEI EKAVKEANAY DFIMKLPHKF DTLVGERGAQ LSGGQKQRIA 550 560 570 580 590 600 IARALVRNPK ILLLDEATSA LDTESEAVVQ VALDKARKGR TTIVIAHRLS TVRNADVIAG 610 620 630 640 650 660 FDDGVIVEKG NHDELMKEKG IYFKLVTMQT AGNEVELENA ADESKSEIDA LEMSSNDSRS 670 680 690 700 710 720 SLIRKRSTRR SVRGSQAQDR KLSTKEALDE SIPPVSFWRI MKLNLTEWPY FVVGVFCAII 730 740 750 760 770 780 NGGLQPAFAI IFSKIIGVFT RIDDPETKRQ NSNLFSLLFL ALGIISFITF FLQGFTFGKA 790 800 810 820 830 840 GEILTKRLRY MVFRSMLRQD VSWFDDPKNT TGALTTRLAN DAAQVKGAIG SRLAVITQNI 850 860 870 880 890 900 ANLGTGIIIS FIYGWQLTLL LLAIVPIIAI AGVVEMKMLS GQALKDKKEL EGSGKIATEA 910 920 930 940 950 960 IENFRTVVSL TQEQKFEHMY AQSLQVPYRN SLRKAHIFGI TFSFTQAMMY FSYAGCFRFG 970 980 990 1000 1010 1020 AYLVAHKLMS FEDVLLVFSA VVFGAMAVGQ VSSFAPDYAK AKISAAHIIM IIEKTPLIDS 1030 1040 1050 1060 1070 1080 YSTEGLMPNT LEGNVTFGEV VFNYPTRPDI PVLQGLSLEV KKGQTLALVG SSGCGKSTVV 1090 1100 1110 1120 1130 1140 QLLERFYDPL AGKVLLDGKE IKRLNVQWLR AHLGIVSQEP ILFDCSIAEN IAYGDNSRVV 1150 1160 1170 1180 1190 1200 SQEEIVRAAK EANIHAFIES LPNKYSTKVG DKGTQLSGGQ KQRIAIARAL VRQPHILLLD 1210 1220 1230 1240 1250 1260 EATSALDTES EKVVQEALDK AREGRTCIVI AHRLSTIQNA DLIVVFQNGR VKEHGTHQQL 1270 1280 LAQKGIYFSM VSVQAGTKRQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells." Chen C.-J., Chin J.E., Ueda K., Clark D.P., Pastan I., Gottesman M.M., Roninson I.B. Cell 47:381-389(1986) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-185 AND ALA-893.
[2]	"Genomic organization of the human multidrug resistance (MDR1) gene and origin of P-glycoproteins." Chen C.-J., Clark D.P., Ueda K., Pastan I., Gottesman M.M., Roninson I.B. J. Biol. Chem. 265:506-514(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-893.
[3]	"Multidrug-resistant human sarcoma cells with a mutant P-glycoprotein, altered phenotype, and resistance to cyclosporins." Chen G., Duran G.E., Steger K.A., Lacayo N.J., Jaffrezou J.P., Dumontet C., Sikic B.I. J. Biol. Chem. 272:5974-5982(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-185 AND ALA-893.
[4]	NIEHS SNPs program Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-17; ASP-21; ASN-400; LYS-566; CYS-593; VAL-836; ALA-893; ALA-1051; THR-1141 AND ILE-1251.
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-21. Tissue: Thalamus.
[6]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"mdr1/P-glycoprotein gene segments analyzed from various human leukemic cell lines exhibiting different multidrug resistance profiles." Gekeler V., Weger S., Probst H. Biochem. Biophys. Res. Commun. 169:796-802(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 178-215 AND 800-856.
[8]	"P-glycoprotein gene (MDR1) cDNA from human adrenal: normal P-glycoprotein carries Gly185 with an altered pattern of multidrug resistance." Kioka N., Tsubota J., Kakehi Y., Komano T., Gottesman M.M., Pastan I., Ueda K. Biochem. Biophys. Res. Commun. 162:224-231(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-23.
[9]	"ABC drug transporters: hereditary polymorphisms and pharmacological impact in MDR1, MRP1 and MRP2." Kerb R., Hoffmeyer S., Brinkmann U. Pharmacogenomics 2:51-64(2001) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW.
[10]	"Cytoplasmic domains of the transporter associated with antigen processing and P-glycoprotein interact with subunits of the proteasome." Begley G.S., Horvath A.R., Taylor J.C., Higgins C.F. Mol. Immunol. 42:137-141(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PSMB5.
[11]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[12]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]	"An altered pattern of cross-resistance in multidrug-resistant human cells results from spontaneous mutations in the mdr1 (P-glycoprotein) gene." Choi K.H., Chen C.-J., Kriegler M., Roninson I.B. Cell 53:519-529(1988) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT VAL-185.
[14]	"Genetic polymorphism in MDR-1: a tool for examining allelic expression in normal cells, unselected and drug-selected cell lines, and human tumors." Mickley L.A., Lee J.-S., Weng Z., Zhan Z., Alvarez M., Wilson W., Bates S.E., Fojo T. Blood 91:1749-1756(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ALA-893 AND THR-999.
[15]	"A new polymorphism (N21D) in the exon 2 of the human MDR1 gene encoding the P-glycoprotein." Decleves X., Chevillard S., Charpentier C., Vielh P., Laplanche J.-L. Hum. Mutat. 15:486-486(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ASP-21.
[16]	"Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo." Hoffmeyer S., Burk O., von Richter O., Arnold H.P., Brockmoeller J., Johne A., Cascorbi I., Gerloff T., Roots I., Eichelbaum M., Brinkmann U. Proc. Natl. Acad. Sci. U.S.A. 97:3473-3478(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ASP-21; LEU-103 AND ASN-400.
[17]	"Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects." Cascorbi I., Gerloff T., Johne A., Meisel C., Hoffmeyer S., Schwab M., Schaeffeler E., Eichelbaum M., Brinkmann U., Roots I. Clin. Pharmacol. Ther. 69:169-174(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ASP-21; ASN-400; ALA-893; THR-893 AND PRO-1107.
[18]	"Polymorphism of MDR1 gene in healthy Japanese subjects: a novel SNP with an amino acid substitution (Glu108Lys)." Honda T., Dan Y., Koyabu N., Ieiri I., Otsubo K., Higuchi S., Ohtani H., Sawada J. Drug Metab. Pharmacokinet. 17:479-481(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LYS-108.
[19]	"Twelve novel single nucleotide polymorphisms in ABCB1/MDR1 among Japanese patients with ventricular tachycardia who were administered amiodarone." Itoda M., Saito Y., Komamura K., Ueno K., Kamakura S., Ozawa S., Sawada J. Drug Metab. Pharmacokinet. 17:566-571(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ILE-1251.
[20]	"Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population." Saito S., Iida A., Sekine A., Miura Y., Ogawa C., Kawauchi S., Higuchi S., Nakamura Y. J. Hum. Genet. 47:38-50(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ALA-893 AND THR-893.
[21]	"MDR1 Ala893 polymorphism is associated with inflammatory bowel disease." Brant S.R., Panhuysen C.I.M., Nicolae D., Reddy D.M., Bonen D.K., Karaliukas R., Zhang L., Swanson E., Datta L.W., Moran T., Ravenhill G., Duerr R.H., Achkar J.-P., Karban A.S., Cho J.H. Am. J. Hum. Genet. 73:1282-1292(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ALA-893 AND THR-893, ASSOCIATION WITH SUSCEPTIBILITY TO IBD13.
[22]	Erratum Brant S.R., Panhuysen C.I.M., Nicolae D., Reddy D.M., Bonen D.K., Karaliukas R., Zhang L., Swanson E., Datta L.W., Moran T., Ravenhill G., Duerr R.H., Achkar J.-P., Karban A.S., Cho J.H. Am. J. Hum. Genet. 74:1080-1080(2004)
[23]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-887.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

NIEHS-SNPs

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

P-glycoprotein entry

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases
EMBL GenBank DDBJ	M14758 mRNA. Translation: AAA59575.1. M29447 , M29424, M29425, M29426, M29427, M29428, M29429, M29430, M29431, M29432, M29433, M29434, M29435, M29436, M29437, M29438, M29439, M29440, M29441, M29442, M29443, M29444, M29445, M29446 Genomic DNA. Translation: AAA59576.1. AF016535 mRNA. Translation: AAB69423.1. AY910577 Genomic DNA. Translation: AAW82430.1. AK290159 mRNA. Translation: BAF82848.1. AC002457 Genomic DNA. Translation: AAM49149.1. Sequence problems. AC005068 Genomic DNA. No translation available. M37724 Genomic DNA. Translation: AAA88047.1. M37725 Genomic DNA. Translation: AAA88048.1. X58723 Genomic DNA. Translation: CAA41558.1.
PIR	DVHU1. A34914.
RefSeq	NP_000918.2. NM_000927.4.
UniGene	Hs.489033. Hs.737655.
3D structure databases
ProteinModelPortal	P08183.
ModBase	Search...
MobiDB	Search...
Protein-protein interaction databases
BioGrid	111262. 10 interactions.
IntAct	P08183. 6 interactions.
MINT	MINT-5000901.
STRING	9606.ENSP00000265724.
Chemistry
BindingDB	P08183.
ChEMBL	CHEMBL4302.
DrugBank	DB00171. Adenosine triphosphate. DB00802. Alfentanil. DB01169. Arsenic trioxide. DB01072. Atazanavir. DB01136. Carvedilol. DB01394. Colchicine. DB00091. Cyclosporine. DB00694. Daunorubicin. DB00975. Dipyridamole. DB01196. Estramustine. DB00875. Flupenthixol. DB00619. Imatinib. DB01167. Itraconazole. DB00622. Nicardipine. DB01182. Propafenone. DB01103. Quinacrine. DB00908. Quinidine. DB00243. Ranolazine. DB01045. Rifampin. DB00778. Roxithromycin. DB01232. Saquinavir. DB00675. Tamoxifen. DB00570. Vinblastine.
Protein family/group databases
TCDB	3.A.1.201.1. the atp-binding cassette (abc) superfamily.
PTM databases
PhosphoSite	P08183.
Polymorphism databases
DMDM	238054374.
Proteomic databases
PaxDb	P08183.
PRIDE	P08183.
Protocols and materials databases
DNASU	5243.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265724; ENSP00000265724; ENSG00000085563.
GeneID	5243.
KEGG	hsa:5243.
UCSC	uc003uiz.2. human.
Organism-specific databases
CTD	5243.
GeneCards	GC07M087132.
H-InvDB	HIX0033521.
HGNC	HGNC:40. ABCB1.
HPA	CAB001716. HPA002199.
MIM	171050. gene. 612244. phenotype.
neXtProt	NX_P08183.
Orphanet	771. Ulcerative colitis.
PharmGKB	PA267.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1132.
HOVERGEN	HBG080809.
InParanoid	P08183.
KO	K05658.
OMA	KRLNVQW.
OrthoDB	EOG7Z3F4H.
PhylomeDB	P08183.
TreeFam	TF105193.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	P08183.
Bgee	P08183.
CleanEx	HS_ABCB1.
Genevestigator	P08183.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR011527. ABC1_TM_dom. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR001140. ABC_transptr_TM_dom. IPR027417. P-loop_NTPase. [Graphical view]
Pfam	PF00664. ABC_membrane. 2 hits. PF00005. ABC_tran. 2 hits. [Graphical view]
SMART	SM00382. AAA. 2 hits. [Graphical view]
SUPFAM	SSF52540. SSF52540. 2 hits. SSF90123. SSF90123. 2 hits.
PROSITE	PS50929. ABC_TM1F. 2 hits. PS00211. ABC_TRANSPORTER_1. 2 hits. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GeneWiki	P-glycoprotein.
GenomeRNAi	5243.
NextBio	20254.
PRO	P08183.
SOURCE	Search...

Entry information

Entry name

MDR1_HUMAN

Accession

Primary (citable) accession number: P08183
Secondary accession number(s): A8K294, Q12755, Q14812

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1988
Last sequence update:	May 26, 2009
Last modified:	February 19, 2014
This is version 167 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.