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Multidrug resistance protein 1 (EC 3.6.3.44) (ATP-binding cassette sub-family B member 1) (P-glycoprotein 1) (CD antigen CD243)

 MDR1_HUMAN              Reviewed;        1280 AA.
P08183; A8K294; B5AK60; Q12755; Q14812;
01-AUG-1988, integrated into UniProtKB/Swiss-Prot.
26-MAY-2009, sequence version 3.
25-OCT-2017, entry version 207.
RecName: Full=Multidrug resistance protein 1;
EC=3.6.3.44;
AltName: Full=ATP-binding cassette sub-family B member 1;
AltName: Full=P-glycoprotein 1;
AltName: CD_antigen=CD243;
Name=ABCB1; Synonyms=MDR1, PGY1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VAL-185 AND ALA-893,
AND POLYMORPHISM.
PubMed=2876781; DOI=10.1016/0092-8674(86)90595-7;
Chen C.-J., Chin J.E., Ueda K., Clark D.P., Pastan I., Gottesman M.M.,
Roninson I.B.;
"Internal duplication and homology with bacterial transport proteins
in the mdr1 (P-glycoprotein) gene from multidrug-resistant human
cells.";
Cell 47:381-389(1986).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ALA-893.
PubMed=1967175;
Chen C.-J., Clark D.P., Ueda K., Pastan I., Gottesman M.M.,
Roninson I.B.;
"Genomic organization of the human multidrug resistance (MDR1) gene
and origin of P-glycoproteins.";
J. Biol. Chem. 265:506-514(1990).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VAL-185 AND ALA-893,
AND POLYMORPHISM.
PubMed=9038218; DOI=10.1074/jbc.272.9.5974;
Chen G., Duran G.E., Steger K.A., Lacayo N.J., Jaffrezou J.P.,
Dumontet C., Sikic B.I.;
"Multidrug-resistant human sarcoma cells with a mutant P-glycoprotein,
altered phenotype, and resistance to cyclosporins.";
J. Biol. Chem. 272:5974-5982(1997).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Jiang Y., Sun Q., Xie Z., Liu F., Xu W., Wang Y.;
"Cloning of P-glycoprotein cDNA sequence from breast cancer MCF7 cell
line.";
Submitted (JUN-2008) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS LEU-17; ASP-21;
ASN-400; LYS-566; CYS-593; VAL-836; ALA-893; ALA-1051; THR-1141 AND
ILE-1251.
NIEHS SNPs program;
Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
ASP-21.
TISSUE=Thalamus;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12853948; DOI=10.1038/nature01782;
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.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 178-215 AND 800-856.
PubMed=1972623; DOI=10.1016/0006-291X(90)90401-8;
Gekeler V., Weger S., Probst H.;
"mdr1/P-glycoprotein gene segments analyzed from various human
leukemic cell lines exhibiting different multidrug resistance
profiles.";
Biochem. Biophys. Res. Commun. 169:796-802(1990).
[9]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-23 (ISOFORM 1/2).
PubMed=2568832; DOI=10.1016/0006-291X(89)91985-2;
Kioka N., Tsubota J., Kakehi Y., Komano T., Gottesman M.M., Pastan I.,
Ueda K.;
"P-glycoprotein gene (MDR1) cDNA from human adrenal: normal P-
glycoprotein carries Gly185 with an altered pattern of multidrug
resistance.";
Biochem. Biophys. Res. Commun. 162:224-231(1989).
[10]
REVIEW.
PubMed=11258197; DOI=10.1517/14622416.2.1.51;
Kerb R., Hoffmeyer S., Brinkmann U.;
"ABC drug transporters: hereditary polymorphisms and pharmacological
impact in MDR1, MRP1 and MRP2.";
Pharmacogenomics 2:51-64(2001).
[11]
INTERACTION WITH PSMB5.
PubMed=15488952; DOI=10.1016/j.molimm.2004.07.005;
Begley G.S., Horvath A.R., Taylor J.C., Higgins C.F.;
"Cytoplasmic domains of the transporter associated with antigen
processing and P-glycoprotein interact with subunits of the
proteasome.";
Mol. Immunol. 42:137-141(2005).
[12]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[13]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[14]
INTERACTION WITH PPP2R3C.
PubMed=24333728; DOI=10.1016/j.canlet.2013.12.007;
Katayama K., Yamaguchi M., Noguchi K., Sugimoto Y.;
"Protein phosphatase complex PP5/PPP2R3C dephosphorylates P-
glycoprotein/ABCB1 and down-regulates the expression and function.";
Cancer Lett. 345:124-131(2014).
[15]
VARIANT VAL-185, AND POLYMORPHISM.
PubMed=2897240; DOI=10.1016/0092-8674(88)90568-5;
Choi K.H., Chen C.-J., Kriegler M., Roninson I.B.;
"An altered pattern of cross-resistance in multidrug-resistant human
cells results from spontaneous mutations in the mdr1 (P-glycoprotein)
gene.";
Cell 53:519-529(1988).
[16]
VARIANTS ALA-893 AND THR-999.
PubMed=9473242;
Mickley L.A., Lee J.-S., Weng Z., Zhan Z., Alvarez M., Wilson W.,
Bates S.E., Fojo T.;
"Genetic polymorphism in MDR-1: a tool for examining allelic
expression in normal cells, unselected and drug-selected cell lines,
and human tumors.";
Blood 91:1749-1756(1998).
[17]
VARIANT ASP-21.
PubMed=10790226;
DOI=10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU26>3.0.CO;2-P;
Decleves X., Chevillard S., Charpentier C., Vielh P., Laplanche J.-L.;
"A new polymorphism (N21D) in the exon 2 of the human MDR1 gene
encoding the P-glycoprotein.";
Hum. Mutat. 15:486-486(2000).
[18]
VARIANTS ASP-21; LEU-103 AND ASN-400.
PubMed=10716719; DOI=10.1073/pnas.97.7.3473;
Hoffmeyer S., Burk O., von Richter O., Arnold H.P., Brockmoeller J.,
Johne A., Cascorbi I., Gerloff T., Roots I., Eichelbaum M.,
Brinkmann U.;
"Functional polymorphisms of the human multidrug-resistance gene:
multiple sequence variations and correlation of one allele with P-
glycoprotein expression and activity in vivo.";
Proc. Natl. Acad. Sci. U.S.A. 97:3473-3478(2000).
[19]
VARIANTS ASP-21; ASN-400; ALA-893; THR-893 AND PRO-1107.
PubMed=11240981; DOI=10.1067/mcp.2001.114164;
Cascorbi I., Gerloff T., Johne A., Meisel C., Hoffmeyer S., Schwab M.,
Schaeffeler E., Eichelbaum M., Brinkmann U., Roots I.;
"Frequency of single nucleotide polymorphisms in the P-glycoprotein
drug transporter MDR1 gene in white subjects.";
Clin. Pharmacol. Ther. 69:169-174(2001).
[20]
VARIANT LYS-108.
PubMed=15618700; DOI=10.2133/dmpk.17.479;
Honda T., Dan Y., Koyabu N., Ieiri I., Otsubo K., Higuchi S.,
Ohtani H., Sawada J.;
"Polymorphism of MDR1 gene in healthy Japanese subjects: a novel SNP
with an amino acid substitution (Glu108Lys).";
Drug Metab. Pharmacokinet. 17:479-481(2002).
[21]
VARIANT ILE-1251.
PubMed=15618713; DOI=10.2133/dmpk.17.566;
Itoda M., Saito Y., Komamura K., Ueno K., Kamakura S., Ozawa S.,
Sawada J.;
"Twelve novel single nucleotide polymorphisms in ABCB1/MDR1 among
Japanese patients with ventricular tachycardia who were administered
amiodarone.";
Drug Metab. Pharmacokinet. 17:566-571(2002).
[22]
VARIANTS ALA-893 AND THR-893.
PubMed=11829140; DOI=10.1007/s10038-002-8653-6;
Saito S., Iida A., Sekine A., Miura Y., Ogawa C., Kawauchi S.,
Higuchi S., Nakamura Y.;
"Three hundred twenty-six genetic variations in genes encoding nine
members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the
Japanese population.";
J. Hum. Genet. 47:38-50(2002).
[23]
VARIANTS ALA-893 AND THR-893, AND ASSOCIATION WITH SUSCEPTIBILITY TO
IBD13.
PubMed=14610718; DOI=10.1086/379927;
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.;
"MDR1 Ala893 polymorphism is associated with inflammatory bowel
disease.";
Am. J. Hum. Genet. 73:1282-1292(2003).
[24]
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).
[25]
VARIANT [LARGE SCALE ANALYSIS] ASN-887.
PubMed=16959974; DOI=10.1126/science.1133427;
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.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
-!- FUNCTION: Energy-dependent efflux pump responsible for decreased
drug accumulation in multidrug-resistant cells.
-!- CATALYTIC ACTIVITY: ATP + H(2)O + xenobiotic(In) = ADP + phosphate
+ xenobiotic(Out).
-!- SUBUNIT: Interacts with PSMB5. Finds in a complex with ABCB1,
TFPI2 and PPP2R3C; leading to the dephosphorylation of ABCB1.
{ECO:0000269|PubMed:15488952, ECO:0000269|PubMed:24333728}.
-!- INTERACTION:
Q86VI4:LAPTM4B; NbExp=2; IntAct=EBI-1057359, EBI-3267258;
Q99496:RNF2; NbExp=2; IntAct=EBI-1057359, EBI-722416;
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass
membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P08183-1; Sequence=Displayed;
Name=2;
IsoId=P08183-2; Sequence=VSP_055769;
-!- 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.
{ECO:0000269|PubMed:2876781, ECO:0000269|PubMed:2897240,
ECO:0000269|PubMed:9038218}.
-!- 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.
-!- SIMILARITY: Belongs to the ABC transporter superfamily. ABCB
family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAM49149.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/PGY1ID105.html";
-!- WEB RESOURCE: Name=NIEHS-SNPs;
URL="http://egp.gs.washington.edu/data/abcb1/";
-!- WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and
polymorphism database;
URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCB1";
-!- WEB RESOURCE: Name=Wikipedia; Note=P-glycoprotein entry;
URL="https://en.wikipedia.org/wiki/P-glycoprotein";
-!- WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC
proteins;
URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P08183";
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EMBL; M14758; AAA59575.1; -; mRNA.
EMBL; M29447; AAA59576.1; -; Genomic_DNA.
EMBL; M29424; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29425; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29426; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29427; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29428; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29429; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29430; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29431; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29432; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29433; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29434; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29435; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29436; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29437; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29438; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29439; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29440; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29441; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29442; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29443; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29444; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29445; AAA59576.1; JOINED; Genomic_DNA.
EMBL; M29446; AAA59576.1; JOINED; Genomic_DNA.
EMBL; AF016535; AAB69423.1; -; mRNA.
EMBL; EU854148; ACF94688.1; -; mRNA.
EMBL; AY910577; AAW82430.1; -; Genomic_DNA.
EMBL; AK290159; BAF82848.1; -; mRNA.
EMBL; AC002457; AAM49149.1; ALT_SEQ; Genomic_DNA.
EMBL; AC005068; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; M37724; AAA88047.1; -; Genomic_DNA.
EMBL; M37725; AAA88048.1; -; Genomic_DNA.
EMBL; X58723; CAA41558.1; -; Genomic_DNA.
CCDS; CCDS5608.1; -. [P08183-1]
PIR; A34914; DVHU1.
RefSeq; NP_000918.2; NM_000927.4. [P08183-1]
UniGene; Hs.489033; -.
UniGene; Hs.689936; -.
UniGene; Hs.737655; -.
ProteinModelPortal; P08183; -.
SMR; P08183; -.
BioGrid; 111262; 16.
IntAct; P08183; 6.
MINT; MINT-5000901; -.
STRING; 9606.ENSP00000265724; -.
BindingDB; P08183; -.
ChEMBL; CHEMBL4302; -.
DrugBank; DB01193; Acebutolol.
DrugBank; DB00316; Acetaminophen.
DrugBank; DB00945; Acetylsalicylic acid.
DrugBank; DB00171; Adenosine triphosphate.
DrugBank; DB08916; Afatinib.
DrugBank; DB00518; Albendazole.
DrugBank; DB04630; Aldosterone.
DrugBank; DB11363; Alectinib.
DrugBank; DB00802; Alfentanil.
DrugBank; DB00523; Alitretinoin.
DrugBank; DB00915; Amantadine.
DrugBank; DB06403; Ambrisentan.
DrugBank; DB00345; Aminohippuric acid.
DrugBank; DB01118; Amiodarone.
DrugBank; DB00321; Amitriptyline.
DrugBank; DB00381; Amlodipine.
DrugBank; DB00701; Amprenavir.
DrugBank; DB00276; Amsacrine.
DrugBank; DB06605; Apixaban.
DrugBank; DB01169; Arsenic trioxide.
DrugBank; DB00637; Astemizole.
DrugBank; DB01072; Atazanavir.
DrugBank; DB00335; Atenolol.
DrugBank; DB01076; Atorvastatin.
DrugBank; DB06626; Axitinib.
DrugBank; DB00972; Azelastine.
DrugBank; DB00207; Azithromycin.
DrugBank; DB01086; Benzocaine.
DrugBank; DB01244; Bepridil.
DrugBank; DB00443; Betamethasone.
DrugBank; DB00810; Biperiden.
DrugBank; DB08873; Boceprevir.
DrugBank; DB06616; Bosutinib.
DrugBank; DB08870; Brentuximab vedotin.
DrugBank; DB01200; Bromocriptine.
DrugBank; DB00921; Buprenorphine.
DrugBank; DB00490; Buspirone.
DrugBank; DB06772; Cabazitaxel.
DrugBank; DB00201; Caffeine.
DrugBank; DB04690; Camptothecin.
DrugBank; DB08907; Canagliflozin.
DrugBank; DB00796; Candesartan.
DrugBank; DB01197; Captopril.
DrugBank; DB00564; Carbamazepine.
DrugBank; DB08889; Carfilzomib.
DrugBank; DB01136; Carvedilol.
DrugBank; DB00520; Caspofungin.
DrugBank; DB09063; Ceritinib.
DrugBank; DB00439; Cerivastatin.
DrugBank; DB00608; Chloroquine.
DrugBank; DB00477; Chlorpromazine.
DrugBank; DB00672; Chlorpropamide.
DrugBank; DB01239; Chlorprothixene.
DrugBank; DB04540; Cholesterol.
DrugBank; DB02659; Cholic Acid.
DrugBank; DB01340; Cilazapril.
DrugBank; DB00501; Cimetidine.
DrugBank; DB00537; Ciprofloxacin.
DrugBank; DB00515; Cisplatin.
DrugBank; DB00215; Citalopram.
DrugBank; DB01211; Clarithromycin.
DrugBank; DB00349; Clobazam.
DrugBank; DB00845; Clofazimine.
DrugBank; DB00882; Clomifene.
DrugBank; DB01242; Clomipramine.
DrugBank; DB00575; Clonidine.
DrugBank; DB00758; Clopidogrel.
DrugBank; DB00257; Clotrimazole.
DrugBank; DB00363; Clozapine.
DrugBank; DB09065; Cobicistat.
DrugBank; DB05239; Cobimetinib.
DrugBank; DB01394; Colchicine.
DrugBank; DB02587; Colforsin.
DrugBank; DB00286; Conjugated Equine Estrogens.
DrugBank; DB08865; Crizotinib.
DrugBank; DB00531; Cyclophosphamide.
DrugBank; DB00091; Cyclosporine.
DrugBank; DB06695; Dabigatran etexilate.
DrugBank; DB08912; Dabrafenib.
DrugBank; DB09102; Daclatasvir.
DrugBank; DB00970; Dactinomycin.
DrugBank; DB06292; Dapagliflozin.
DrugBank; DB01254; Dasatinib.
DrugBank; DB00694; Daunorubicin.
DrugBank; DB04840; Debrisoquin.
DrugBank; DB01151; Desipramine.
DrugBank; DB00967; Desloratadine.
DrugBank; DB01234; Dexamethasone.
DrugBank; DB00514; Dextromethorphan.
DrugBank; DB00829; Diazepam.
DrugBank; DB00586; Diclofenac.
DrugBank; DB00255; Diethylstilbestrol.
DrugBank; DB01396; Digitoxin.
DrugBank; DB00390; Digoxin.
DrugBank; DB00320; Dihydroergotamine.
DrugBank; DB02901; Dihydrotestosterone.
DrugBank; DB00343; Diltiazem.
DrugBank; DB00975; Dipyridamole.
DrugBank; DB01248; Docetaxel.
DrugBank; DB01184; Domperidone.
DrugBank; DB00590; Doxazosin.
DrugBank; DB01142; Doxepin.
DrugBank; DB00997; Doxorubicin.
DrugBank; DB00470; Dronabinol.
DrugBank; DB04855; Dronedarone.
DrugBank; DB09075; Edoxaban.
DrugBank; DB04881; Elacridar.
DrugBank; DB11574; Elbasvir.
DrugBank; DB00216; Eletriptan.
DrugBank; DB00584; Enalapril.
DrugBank; DB08899; Enzalutamide.
DrugBank; DB00751; Epinastine.
DrugBank; DB01253; Ergonovine.
DrugBank; DB00696; Ergotamine.
DrugBank; DB00530; Erlotinib.
DrugBank; DB00199; Erythromycin.
DrugBank; DB00783; Estradiol.
DrugBank; DB01196; Estramustine.
DrugBank; DB04573; Estriol.
DrugBank; DB00655; Estrone.
DrugBank; DB00977; Ethinyl Estradiol.
DrugBank; DB00773; Etoposide.
DrugBank; DB06414; Etravirine.
DrugBank; DB00973; Ezetimibe.
DrugBank; DB01023; Felodipine.
DrugBank; DB00813; Fentanyl.
DrugBank; DB06702; Fesoterodine.
DrugBank; DB00950; Fexofenadine.
DrugBank; DB08874; Fidaxomicin.
DrugBank; DB00196; Fluconazole.
DrugBank; DB00472; Fluoxetine.
DrugBank; DB00875; Flupentixol.
DrugBank; DB00623; Fluphenazine.
DrugBank; DB00690; Flurazepam.
DrugBank; DB08906; Fluticasone furoate.
DrugBank; DB00176; Fluvoxamine.
DrugBank; DB05449; FM-VP4.
DrugBank; DB00317; Gefitinib.
DrugBank; DB00441; Gemcitabine.
DrugBank; DB01645; Genistein.
DrugBank; DB01016; Glyburide.
DrugBank; DB09462; Glycerin.
DrugBank; DB04077; Glycerol.
DrugBank; DB00027; Gramicidin D.
DrugBank; DB11575; Grazoprevir.
DrugBank; DB00365; Grepafloxacin.
DrugBank; DB00502; Haloperidol.
DrugBank; DB00741; Hydrocortisone.
DrugBank; DB01050; Ibuprofen.
DrugBank; DB09054; Idelalisib.
DrugBank; DB00619; Imatinib.
DrugBank; DB00458; Imipramine.
DrugBank; DB05039; Indacaterol.
DrugBank; DB00224; Indinavir.
DrugBank; DB00328; Indomethacin.
DrugBank; DB00762; Irinotecan.
DrugBank; DB06636; Isavuconazonium.
DrugBank; DB01167; Itraconazole.
DrugBank; DB08820; Ivacaftor.
DrugBank; DB00602; Ivermectin.
DrugBank; DB01221; Ketamine.
DrugBank; DB01587; Ketazolam.
DrugBank; DB01026; Ketoconazole.
DrugBank; DB00709; Lamivudine.
DrugBank; DB00555; Lamotrigine.
DrugBank; DB00448; Lansoprazole.
DrugBank; DB01259; Lapatinib.
DrugBank; DB00480; Lenalidomide.
DrugBank; DB09078; Lenvatinib.
DrugBank; DB01202; Levetiracetam.
DrugBank; DB01137; Levofloxacin.
DrugBank; DB08918; Levomilnacipran.
DrugBank; DB00451; Levothyroxine.
DrugBank; DB00281; Lidocaine.
DrugBank; DB08882; Linagliptin.
DrugBank; DB00279; Liothyronine.
DrugBank; DB01583; Liotrix.
DrugBank; DB00722; Lisinopril.
DrugBank; DB08827; Lomitapide.
DrugBank; DB00836; Loperamide.
DrugBank; DB01601; Lopinavir.
DrugBank; DB00455; Loratadine.
DrugBank; DB00678; Losartan.
DrugBank; DB00227; Lovastatin.
DrugBank; DB00742; Mannitol.
DrugBank; DB00934; Maprotiline.
DrugBank; DB00643; Mebendazole.
DrugBank; DB00358; Mefloquine.
DrugBank; DB00351; Megestrol acetate.
DrugBank; DB00371; Meprobamate.
DrugBank; DB00333; Methadone.
DrugBank; DB00563; Methotrexate.
DrugBank; DB00959; Methylprednisolone.
DrugBank; DB00264; Metoprolol.
DrugBank; DB01388; Mibefradil.
DrugBank; DB01110; Miconazole.
DrugBank; DB00683; Midazolam.
DrugBank; DB00834; Mifepristone.
DrugBank; DB08893; Mirabegron.
DrugBank; DB00305; Mitomycin.
DrugBank; DB01204; Mitoxantrone.
DrugBank; DB00295; Morphine.
DrugBank; DB00688; Mycophenolate mofetil.
DrugBank; DB01203; Nadolol.
DrugBank; DB01183; Naloxone.
DrugBank; DB00704; Naltrexone.
DrugBank; DB03467; Naringenin.
DrugBank; DB01149; Nefazodone.
DrugBank; DB00220; Nelfinavir.
DrugBank; DB01400; Neostigmine.
DrugBank; DB00622; Nicardipine.
DrugBank; DB01115; Nifedipine.
DrugBank; DB04868; Nilotinib.
DrugBank; DB09079; Nintedanib.
DrugBank; DB00401; Nisoldipine.
DrugBank; DB01595; Nitrazepam.
DrugBank; DB01054; Nitrendipine.
DrugBank; DB00585; Nizatidine.
DrugBank; DB00717; Norethisterone.
DrugBank; DB00334; Olanzapine.
DrugBank; DB09296; Ombitasvir.
DrugBank; DB00338; Omeprazole.
DrugBank; DB09330; Osimertinib.
DrugBank; DB04417; P-Nitrophenol.
DrugBank; DB01229; Paclitaxel.
DrugBank; DB03796; Palmitic Acid.
DrugBank; DB06603; Panobinostat.
DrugBank; DB00213; Pantoprazole.
DrugBank; DB00715; Paroxetine.
DrugBank; DB06589; Pazopanib.
DrugBank; DB00790; Perindopril.
DrugBank; DB01174; Phenobarbital.
DrugBank; DB00252; Phenytoin.
DrugBank; DB01100; Pimozide.
DrugBank; DB08860; Pitavastatin.
DrugBank; DB02261; Platelet Activating Factor.
DrugBank; DB08910; Pomalidomide.
DrugBank; DB08901; Ponatinib.
DrugBank; DB01263; Posaconazole.
DrugBank; DB00175; Pravastatin.
DrugBank; DB00457; Prazosin.
DrugBank; DB00860; Prednisolone.
DrugBank; DB00635; Prednisone.
DrugBank; DB01032; Probenecid.
DrugBank; DB00396; Progesterone.
DrugBank; DB01069; Promethazine.
DrugBank; DB01182; Propafenone.
DrugBank; DB00571; Propranolol.
DrugBank; DB00344; Protriptyline.
DrugBank; DB04216; Quercetin.
DrugBank; DB01224; Quetiapine.
DrugBank; DB01103; Quinacrine.
DrugBank; DB00908; Quinidine.
DrugBank; DB00468; Quinine.
DrugBank; DB00863; Ranitidine.
DrugBank; DB00234; Reboxetine.
DrugBank; DB08896; Regorafenib.
DrugBank; DB00206; Reserpine.
DrugBank; DB01045; Rifampicin.
DrugBank; DB08864; Rilpivirine.
DrugBank; DB00734; Risperidone.
DrugBank; DB00503; Ritonavir.
DrugBank; DB06228; Rivaroxaban.
DrugBank; DB09291; Rolapitant.
DrugBank; DB06176; Romidepsin.
DrugBank; DB00778; Roxithromycin.
DrugBank; DB00936; Salicylic acid.
DrugBank; DB01232; Saquinavir.
DrugBank; DB00747; Scopolamine.
DrugBank; DB01037; Selegiline.
DrugBank; DB11362; Selexipag.
DrugBank; DB01104; Sertraline.
DrugBank; DB06207; Silodosin.
DrugBank; DB06290; Simeprevir.
DrugBank; DB00641; Simvastatin.
DrugBank; DB00877; Sirolimus.
DrugBank; DB01261; Sitagliptin.
DrugBank; DB08934; Sofosbuvir.
DrugBank; DB00398; Sorafenib.
DrugBank; DB01208; Sparfloxacin.
DrugBank; DB03203; Sphingosine.
DrugBank; DB00421; Spironolactone.
DrugBank; DB01323; St. John's Wort.
DrugBank; DB02010; Staurosporine.
DrugBank; DB00428; Streptozocin.
DrugBank; DB01138; Sulfinpyrazone.
DrugBank; DB00669; Sumatriptan.
DrugBank; DB01268; Sunitinib.
DrugBank; DB00382; Tacrine.
DrugBank; DB00864; Tacrolimus.
DrugBank; DB00675; Tamoxifen.
DrugBank; DB04348; Taurocholic Acid.
DrugBank; DB09161; Technetium Tc-99m sestamibi.
DrugBank; DB05521; Telaprevir.
DrugBank; DB00966; Telmisartan.
DrugBank; DB06287; Temsirolimus.
DrugBank; DB01162; Terazosin.
DrugBank; DB00342; Terfenadine.
DrugBank; DB04905; Tesmilifene.
DrugBank; DB00624; Testosterone.
DrugBank; DB08816; Ticagrelor.
DrugBank; DB00373; Timolol.
DrugBank; DB06212; Tolvaptan.
DrugBank; DB01030; Topotecan.
DrugBank; DB00539; Toremifene.
DrugBank; DB05773; Trastuzumab emtansine.
DrugBank; DB00656; Trazodone.
DrugBank; DB00831; Trifluoperazine.
DrugBank; DB00508; Triflupromazine.
DrugBank; DB00440; Trimethoprim.
DrugBank; DB00726; Trimipramine.
DrugBank; DB01361; Troleandomycin.
DrugBank; DB08867; Ulipristal.
DrugBank; DB09076; Umeclidinium.
DrugBank; DB01339; Vecuronium.
DrugBank; DB11581; Venetoclax.
DrugBank; DB00285; Venlafaxine.
DrugBank; DB00661; Verapamil.
DrugBank; DB00570; Vinblastine.
DrugBank; DB00541; Vincristine.
DrugBank; DB00361; Vinorelbine.
DrugBank; DB08828; Vismodegib.
DrugBank; DB04877; Voacamine.
DrugBank; DB00495; Zidovudine.
DrugBank; DB04832; Zimelidine.
SwissLipids; SLP:000000385; -.
MoonProt; P08183; -.
TCDB; 3.A.1.201.1; the atp-binding cassette (abc) superfamily.
iPTMnet; P08183; -.
PhosphoSitePlus; P08183; -.
BioMuta; ABCB1; -.
DMDM; 238054374; -.
EPD; P08183; -.
MaxQB; P08183; -.
PaxDb; P08183; -.
PeptideAtlas; P08183; -.
PRIDE; P08183; -.
DNASU; 5243; -.
Ensembl; ENST00000265724; ENSP00000265724; ENSG00000085563. [P08183-1]
Ensembl; ENST00000543898; ENSP00000444095; ENSG00000085563. [P08183-2]
Ensembl; ENST00000622132; ENSP00000478255; ENSG00000085563. [P08183-1]
GeneID; 5243; -.
KEGG; hsa:5243; -.
UCSC; uc003uiz.3; human. [P08183-1]
CTD; 5243; -.
DisGeNET; 5243; -.
EuPathDB; HostDB:ENSG00000085563.14; -.
GeneCards; ABCB1; -.
H-InvDB; HIX0033521; -.
HGNC; HGNC:40; ABCB1.
HPA; CAB001716; -.
HPA; HPA002199; -.
MalaCards; ABCB1; -.
MIM; 171050; gene.
MIM; 612244; phenotype.
neXtProt; NX_P08183; -.
OpenTargets; ENSG00000085563; -.
Orphanet; 771; Ulcerative colitis.
PharmGKB; PA267; -.
eggNOG; KOG0055; Eukaryota.
eggNOG; COG1132; LUCA.
GeneTree; ENSGT00530000062896; -.
HOVERGEN; HBG080809; -.
InParanoid; P08183; -.
KO; K05658; -.
OMA; MQTRGNE; -.
OrthoDB; EOG091G0HVA; -.
PhylomeDB; P08183; -.
TreeFam; TF105193; -.
BRENDA; 3.6.3.44; 2681.
Reactome; R-HSA-2161517; Abacavir transmembrane transport.
Reactome; R-HSA-382556; ABC-family proteins mediated transport.
SIGNOR; P08183; -.
ChiTaRS; ABCB1; human.
GeneWiki; P-glycoprotein; -.
GenomeRNAi; 5243; -.
PRO; PR:P08183; -.
Proteomes; UP000005640; Chromosome 7.
Bgee; ENSG00000085563; -.
CleanEx; HS_ABCB1; -.
ExpressionAtlas; P08183; baseline and differential.
Genevisible; P08183; HS.
GO; GO:0016324; C:apical plasma membrane; IDA:BHF-UCL.
GO; GO:0009986; C:cell surface; IDA:DFLAT.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0016021; C:integral component of membrane; TAS:ProtInc.
GO; GO:0016020; C:membrane; TAS:ProtInc.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0005524; F:ATP binding; TAS:ProtInc.
GO; GO:0042626; F:ATPase activity, coupled to transmembrane movement of substances; TAS:ProtInc.
GO; GO:0099038; F:ceramide-translocating ATPase activity; IDA:BHF-UCL.
GO; GO:0090554; F:phosphatidylcholine-translocating ATPase activity; IDA:BHF-UCL.
GO; GO:0090555; F:phosphatidylethanolamine-translocating ATPase activity; IDA:BHF-UCL.
GO; GO:0005215; F:transporter activity; TAS:ProtInc.
GO; GO:0008559; F:xenobiotic-transporting ATPase activity; TAS:Reactome.
GO; GO:0099040; P:ceramide translocation; IDA:BHF-UCL.
GO; GO:0000086; P:G2/M transition of mitotic cell cycle; IDA:DFLAT.
GO; GO:0045332; P:phospholipid translocation; IDA:BHF-UCL.
GO; GO:1901529; P:positive regulation of anion channel activity; IMP:CAFA.
GO; GO:2001225; P:regulation of chloride transport; IMP:CAFA.
GO; GO:0047484; P:regulation of response to osmotic stress; IMP:CAFA.
GO; GO:0042493; P:response to drug; TAS:ProtInc.
GO; GO:0072089; P:stem cell proliferation; IMP:DFLAT.
GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
GO; GO:0006810; P:transport; TAS:ProtInc.
Gene3D; 1.20.1560.10; -; 2.
InterPro; IPR003593; AAA+_ATPase.
InterPro; IPR011527; ABC1_TM_dom.
InterPro; IPR036640; ABC1_TM_sf.
InterPro; IPR003439; ABC_transporter-like.
InterPro; IPR017871; ABC_transporter_CS.
InterPro; IPR030258; MDR1.
InterPro; IPR027417; P-loop_NTPase.
PANTHER; PTHR24221:SF251; PTHR24221:SF251; 2.
Pfam; PF00664; ABC_membrane; 2.
Pfam; PF00005; ABC_tran; 2.
SMART; SM00382; AAA; 2.
SUPFAM; SSF52540; SSF52540; 2.
SUPFAM; SSF90123; SSF90123; 2.
PROSITE; PS50929; ABC_TM1F; 2.
PROSITE; PS00211; ABC_TRANSPORTER_1; 2.
PROSITE; PS50893; ABC_TRANSPORTER_2; 2.
1: Evidence at protein level;
Alternative splicing; ATP-binding; Cell membrane; Complete proteome;
Glycoprotein; Hydrolase; Membrane; Nucleotide-binding; Phosphoprotein;
Polymorphism; Reference proteome; Repeat; Transmembrane;
Transmembrane helix; Transport.
CHAIN 1 1280 Multidrug resistance protein 1.
/FTId=PRO_0000093332.
TOPO_DOM 1 44 Cytoplasmic. {ECO:0000250}.
TRANSMEM 45 67 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 68 116 Extracellular. {ECO:0000250}.
TRANSMEM 117 137 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 138 186 Cytoplasmic. {ECO:0000250}.
TRANSMEM 187 208 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 209 215 Extracellular. {ECO:0000250}.
TRANSMEM 216 236 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 237 292 Cytoplasmic. {ECO:0000250}.
TRANSMEM 293 316 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 317 330 Extracellular. {ECO:0000250}.
TRANSMEM 331 352 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 353 711 Cytoplasmic. {ECO:0000250}.
TRANSMEM 712 732 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 733 756 Extracellular. {ECO:0000250}.
TRANSMEM 757 777 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 778 832 Cytoplasmic. {ECO:0000250}.
TRANSMEM 833 853 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 854 854 Extracellular. {ECO:0000250}.
TRANSMEM 855 874 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 875 934 Cytoplasmic. {ECO:0000250}.
TRANSMEM 935 957 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 958 973 Extracellular. {ECO:0000250}.
TRANSMEM 974 995 Helical. {ECO:0000255|PROSITE-
ProRule:PRU00441}.
TOPO_DOM 996 1280 Cytoplasmic. {ECO:0000250}.
DOMAIN 51 357 ABC transmembrane type-1 1.
{ECO:0000255|PROSITE-ProRule:PRU00441}.
DOMAIN 392 628 ABC transporter 1. {ECO:0000255|PROSITE-
ProRule:PRU00434}.
DOMAIN 711 1000 ABC transmembrane type-1 2.
{ECO:0000255|PROSITE-ProRule:PRU00441}.
DOMAIN 1035 1273 ABC transporter 2. {ECO:0000255|PROSITE-
ProRule:PRU00434}.
NP_BIND 427 434 ATP 1. {ECO:0000255|PROSITE-
ProRule:PRU00434}.
NP_BIND 1070 1077 ATP 2. {ECO:0000255|PROSITE-
ProRule:PRU00434}.
MOD_RES 660 660 Phosphoserine.
{ECO:0000250|UniProtKB:P06795}.
CARBOHYD 91 91 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 94 94 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 99 99 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 113 177 RYAYYYSGIGAGVLVAAYIQVSFWCLAAGRQIHKIRKQFFH
AIMRQEIGWFDVHDVGELNTRLTD -> S (in isoform
2). {ECO:0000303|Ref.4}.
/FTId=VSP_055769.
VARIANT 17 17 F -> L (in dbSNP:rs28381804).
{ECO:0000269|Ref.5}.
/FTId=VAR_022276.
VARIANT 21 21 N -> D (in dbSNP:rs9282564).
{ECO:0000269|PubMed:10716719,
ECO:0000269|PubMed:10790226,
ECO:0000269|PubMed:11240981,
ECO:0000269|PubMed:14702039,
ECO:0000269|Ref.5}.
/FTId=VAR_014704.
VARIANT 44 44 N -> S (in dbSNP:rs1202183).
/FTId=VAR_055423.
VARIANT 80 80 A -> E (in dbSNP:rs9282565).
/FTId=VAR_055424.
VARIANT 103 103 F -> L (rare polymorphism).
{ECO:0000269|PubMed:10716719}.
/FTId=VAR_015001.
VARIANT 108 108 E -> K. {ECO:0000269|PubMed:15618700}.
/FTId=VAR_018351.
VARIANT 185 185 G -> V (in a colchicine-selected
multidrug-resistant cell line; confers
increased resistance to colchicine;
dbSNP:rs1128501).
{ECO:0000269|PubMed:2876781,
ECO:0000269|PubMed:2897240,
ECO:0000269|PubMed:9038218}.
/FTId=VAR_015002.
VARIANT 261 261 I -> V (in dbSNP:rs36008564).
/FTId=VAR_055425.
VARIANT 400 400 S -> N (in dbSNP:rs2229109).
{ECO:0000269|PubMed:10716719,
ECO:0000269|PubMed:11240981,
ECO:0000269|Ref.5}.
/FTId=VAR_015003.
VARIANT 566 566 E -> K (in dbSNP:rs28381902).
{ECO:0000269|Ref.5}.
/FTId=VAR_022277.
VARIANT 593 593 R -> C (in dbSNP:rs28381914).
{ECO:0000269|Ref.5}.
/FTId=VAR_022278.
VARIANT 599 599 A -> T (in dbSNP:rs2235036).
/FTId=VAR_055426.
VARIANT 669 669 R -> C (in dbSNP:rs35023033).
/FTId=VAR_055427.
VARIANT 801 801 V -> M (in dbSNP:rs2235039).
/FTId=VAR_055428.
VARIANT 829 829 I -> V (in dbSNP:rs2032581).
/FTId=VAR_055429.
VARIANT 836 836 I -> V (in dbSNP:rs28381967).
{ECO:0000269|Ref.5}.
/FTId=VAR_022279.
VARIANT 887 887 K -> N (in a colorectal cancer sample;
somatic mutation).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_035737.
VARIANT 893 893 S -> A (common allele; associated with
susceptibility to IBD13; has decreased
enzyme activity; dbSNP:rs2032582).
{ECO:0000269|PubMed:11240981,
ECO:0000269|PubMed:11829140,
ECO:0000269|PubMed:14610718,
ECO:0000269|PubMed:1967175,
ECO:0000269|PubMed:2876781,
ECO:0000269|PubMed:9038218,
ECO:0000269|PubMed:9473242,
ECO:0000269|Ref.5}.
/FTId=VAR_013361.
VARIANT 893 893 S -> T (rare allele; dbSNP:rs2032582).
{ECO:0000269|PubMed:11240981,
ECO:0000269|PubMed:11829140,
ECO:0000269|PubMed:14610718}.
/FTId=VAR_013362.
VARIANT 986 986 M -> V.
/FTId=VAR_018352.
VARIANT 999 999 A -> T (in dbSNP:rs72552784).
{ECO:0000269|PubMed:9473242}.
/FTId=VAR_015004.
VARIANT 1051 1051 P -> A (in dbSNP:rs28401798).
{ECO:0000269|Ref.5}.
/FTId=VAR_022280.
VARIANT 1107 1107 Q -> P (in dbSNP:rs55852620).
{ECO:0000269|PubMed:11240981}.
/FTId=VAR_015005.
VARIANT 1141 1141 S -> T (in dbSNP:rs2229107).
{ECO:0000269|Ref.5}.
/FTId=VAR_022281.
VARIANT 1251 1251 V -> I (in dbSNP:rs28364274).
{ECO:0000269|PubMed:15618713,
ECO:0000269|Ref.5}.
/FTId=VAR_018353.
CONFLICT 23 23 S -> R (in Ref. 9; CAA41558).
{ECO:0000305}.
CONFLICT 336 336 Missing (in Ref. 3; AAB69423).
{ECO:0000305}.
SEQUENCE 1280 AA; 141479 MW; F0230744AB288C73 CRC64;
MDLEGDRNGG AKKKNFFKLN NKSEKDKKEK KPTVSVFSMF RYSNWLDKLY MVVGTLAAII
HGAGLPLMML VFGEMTDIFA NAGNLEDLMS NITNRSDIND TGFFMNLEED MTRYAYYYSG
IGAGVLVAAY IQVSFWCLAA GRQIHKIRKQ FFHAIMRQEI GWFDVHDVGE LNTRLTDDVS
KINEGIGDKI GMFFQSMATF FTGFIVGFTR GWKLTLVILA ISPVLGLSAA VWAKILSSFT
DKELLAYAKA GAVAEEVLAA IRTVIAFGGQ KKELERYNKN LEEAKRIGIK KAITANISIG
AAFLLIYASY ALAFWYGTTL VLSGEYSIGQ VLTVFFSVLI GAFSVGQASP SIEAFANARG
AAYEIFKIID NKPSIDSYSK SGHKPDNIKG NLEFRNVHFS YPSRKEVKIL KGLNLKVQSG
QTVALVGNSG CGKSTTVQLM QRLYDPTEGM VSVDGQDIRT INVRFLREII GVVSQEPVLF
ATTIAENIRY GRENVTMDEI EKAVKEANAY DFIMKLPHKF DTLVGERGAQ LSGGQKQRIA
IARALVRNPK ILLLDEATSA LDTESEAVVQ VALDKARKGR TTIVIAHRLS TVRNADVIAG
FDDGVIVEKG NHDELMKEKG IYFKLVTMQT AGNEVELENA ADESKSEIDA LEMSSNDSRS
SLIRKRSTRR SVRGSQAQDR KLSTKEALDE SIPPVSFWRI MKLNLTEWPY FVVGVFCAII
NGGLQPAFAI IFSKIIGVFT RIDDPETKRQ NSNLFSLLFL ALGIISFITF FLQGFTFGKA
GEILTKRLRY MVFRSMLRQD VSWFDDPKNT TGALTTRLAN DAAQVKGAIG SRLAVITQNI
ANLGTGIIIS FIYGWQLTLL LLAIVPIIAI AGVVEMKMLS GQALKDKKEL EGSGKIATEA
IENFRTVVSL TQEQKFEHMY AQSLQVPYRN SLRKAHIFGI TFSFTQAMMY FSYAGCFRFG
AYLVAHKLMS FEDVLLVFSA VVFGAMAVGQ VSSFAPDYAK AKISAAHIIM IIEKTPLIDS
YSTEGLMPNT LEGNVTFGEV VFNYPTRPDI PVLQGLSLEV KKGQTLALVG SSGCGKSTVV
QLLERFYDPL AGKVLLDGKE IKRLNVQWLR AHLGIVSQEP ILFDCSIAEN IAYGDNSRVV
SQEEIVRAAK EANIHAFIES LPNKYSTKVG DKGTQLSGGQ KQRIAIARAL VRQPHILLLD
EATSALDTES EKVVQEALDK AREGRTCIVI AHRLSTIQNA DLIVVFQNGR VKEHGTHQQL
LAQKGIYFSM VSVQAGTKRQ


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