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P21439 (MDR3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Multidrug resistance protein 3

EC=3.6.3.44
Alternative name(s):
ATP-binding cassette sub-family B member 4
P-glycoprotein 3
Gene names
Name:ABCB4
Synonyms:MDR3, PGY3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1286 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Mediates ATP-dependent export of organic anions and drugs from the cytoplasm. Hydrolyzes ATP with low efficiency. Not capable of conferring drug resistance. Mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte.

Catalytic activity

ATP + H2O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out).

Subunit structure

Interacts with HAX1 By similarity.

Subcellular location

Cell membrane; Multi-pass membrane protein.

Involvement in disease

Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.11 Ref.13

Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.15 Ref.16

Gallbladder disease 1 (GBD1) [MIM:600803]: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.14

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 CAA84542.1 differs from that shown. Reason: Probable cloning artifact.

Ontologies

Keywords
   Biological processTransport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Intrahepatic cholestasis
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   Molecular functionHydrolase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular lipid metabolic process

Traceable author statement. Source: Reactome

lipid metabolic process

Traceable author statement PubMed 7912658. Source: ProtInc

response to drug

Traceable author statement PubMed 7912658. Source: ProtInc

small molecule metabolic process

Traceable author statement. Source: Reactome

transmembrane transport

Inferred from Biological aspect of Ancestor. Source: RefGenome

transport

Traceable author statement PubMed 8106172. Source: ProtInc

   Cellular_componentGolgi membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

apical plasma membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

integral component of membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

integral component of plasma membrane

Traceable author statement PubMed 7912658. Source: ProtInc

intercellular canaliculus

Inferred from Biological aspect of Ancestor. Source: RefGenome

membrane

Traceable author statement PubMed 7912658. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

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...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P21439-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P21439-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1094-1100: Missing.
Isoform 3 (identifier: P21439-3)

The sequence of this isoform differs from the canonical sequence as follows:
     929-975: Missing.
     1094-1100: Missing.
Note: No experimental confirmation available. Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12861286Multidrug resistance protein 3
PRO_0000093333

Regions

Topological domain1 – 5050Cytoplasmic By similarity
Transmembrane51 – 7323Helical; By similarity
Topological domain74 – 11845Extracellular By similarity
Transmembrane119 – 13921Helical; By similarity
Topological domain140 – 18849Cytoplasmic By similarity
Transmembrane189 – 21022Helical; By similarity
Topological domain211 – 2177Extracellular By similarity
Transmembrane218 – 23821Helical; By similarity
Topological domain239 – 29658Cytoplasmic By similarity
Transmembrane297 – 31822Helical; By similarity
Topological domain319 – 33214Extracellular By similarity
Transmembrane333 – 35422Helical; By similarity
Topological domain355 – 711357Cytoplasmic By similarity
Transmembrane712 – 73221Helical; By similarity
Topological domain733 – 75523Extracellular By similarity
Transmembrane756 – 77621Helical; By similarity
Topological domain777 – 83155Cytoplasmic By similarity
Transmembrane832 – 85221Helical; By similarity
Topological domain8531Extracellular By similarity
Transmembrane854 – 87320Helical; By similarity
Topological domain874 – 93360Cytoplasmic By similarity
Transmembrane934 – 95623Helical; By similarity
Topological domain957 – 97216Extracellular By similarity
Transmembrane973 – 99422Helical; By similarity
Topological domain995 – 1286292Cytoplasmic By similarity
Domain57 – 359303ABC transmembrane type-1 1
Domain394 – 630237ABC transporter 1
Domain711 – 999289ABC transmembrane type-1 2
Domain1034 – 1279246ABC transporter 2
Nucleotide binding429 – 4368ATP 1 By similarity
Nucleotide binding1069 – 10768ATP 2 By similarity
Region625 – 64723Interaction with HAX1 By similarity

Amino acid modifications

Glycosylation911N-linked (GlcNAc...) Potential
Glycosylation971N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence929 – 97547Missing in isoform 3.
VSP_046258
Alternative sequence1094 – 11007Missing in isoform 2 and isoform 3.
VSP_023263
Natural variant871D → E. Ref.17
VAR_043078
Natural variant951P → S. Ref.17
VAR_043079
Natural variant1381W → R in PFIC3. Ref.11
VAR_043080
Natural variant1501R → K in ICP3. Ref.15
VAR_043081
Natural variant1651F → I in GBD1. Ref.14
VAR_043082
Natural variant1751T → A. Ref.12 Ref.14 Ref.16 Ref.17 Ref.18
Corresponds to variant rs58238559 [ dbSNP | Ensembl ].
VAR_023501
Natural variant2381L → V. Ref.2
Corresponds to variant rs45596335 [ dbSNP | Ensembl ].
VAR_020223
Natural variant2631I → V. Ref.2
Corresponds to variant rs45547936 [ dbSNP | Ensembl ].
VAR_030763
Natural variant3011M → T in GBD1. Ref.14
VAR_043083
Natural variant3201S → F in ICP3 and GBD1. Ref.12 Ref.14 Ref.16
VAR_023502
Natural variant3461S → I in PFIC3. Ref.11
VAR_043084
Natural variant3671I → V. Ref.17
VAR_043085
Natural variant3951E → G in PFIC3. Ref.11
VAR_043086
Natural variant4241T → A in PFIC3. Ref.11
VAR_043087
Natural variant4251V → M in PFIC3. Ref.11
VAR_043088
Natural variant4501E → G. Ref.17
VAR_043089
Natural variant5281E → D. Ref.2 Ref.14 Ref.16
Corresponds to variant rs8187797 [ dbSNP | Ensembl ].
VAR_043090
Natural variant5351G → D in PFIC3. Ref.13
VAR_043091
Natural variant5411I → F in PFIC3. Ref.11
VAR_043092
Natural variant5461A → D in ICP3; disruption of protein trafficking with subsequent lack of functional protein at the cell surface. Ref.10
VAR_023503
Natural variant5561L → R in PFIC3. Ref.11
VAR_043093
Natural variant5641D → G in PFIC3. Ref.11
VAR_043094
Natural variant5901R → Q. Ref.2 Ref.14 Ref.17 Ref.18
Corresponds to variant rs45575636 [ dbSNP | Ensembl ].
VAR_043095
Natural variant5911L → Q in GBD1. Ref.14
VAR_043096
Natural variant6511T → N. Ref.2
Corresponds to variant rs45476795 [ dbSNP | Ensembl ].
VAR_030765
Natural variant6521R → G. Ref.2 Ref.11 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18
Corresponds to variant rs2230028 [ dbSNP | Ensembl ].
VAR_020225
Natural variant7111F → S in PFIC3. Ref.11
VAR_043097
Natural variant7421G → S. Ref.14
VAR_043098
Natural variant7621G → E in ICP3. Ref.16
VAR_043099
Natural variant7641I → L in a heterozygous patient with risperidone-induced cholestasis. Ref.18
VAR_043100
Natural variant7751T → M. Ref.16
VAR_043101
Natural variant7881R → Q. Ref.2 Ref.14
Corresponds to variant rs8187801 [ dbSNP | Ensembl ].
VAR_024359
Natural variant9341A → T in GBD1. Ref.14
Corresponds to variant rs61730509 [ dbSNP | Ensembl ].
VAR_043102
Natural variant9831G → S in PFIC3. Ref.11
Corresponds to variant rs56187107 [ dbSNP | Ensembl ].
VAR_043103
Natural variant10821L → Q in a heterozygous patient with amoxicillin/clavulanic acid-induced cholestasis. Ref.18
VAR_043104
Natural variant11611Missing in GBD1.
VAR_043105
Natural variant11681P → S in GBD1. Ref.12 Ref.14
VAR_023504

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: 9A9066F2292F2CCF

FASTA1,286141,523
        10         20         30         40         50         60 
MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG 

        70         80         90        100        110        120 
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY 

       130        140        150        160        170        180 
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD 

       190        200        210        220        230        240 
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA 

       250        260        270        280        290        300 
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS 

       310        320        330        340        350        360 
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA 

       370        380        390        400        410        420 
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ 

       430        440        450        460        470        480 
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV 

       490        500        510        520        530        540 
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR 

       550        560        570        580        590        600 
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI 

       610        620        630        640        650        660 
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS 

       670        680        690        700        710        720 
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA 

       730        740        750        760        770        780 
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG 

       790        800        810        820        830        840 
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA 

       850        860        870        880        890        900 
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI 

       910        920        930        940        950        960 
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA 

       970        980        990       1000       1010       1020 
YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY 

      1030       1040       1050       1060       1070       1080 
SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ 

      1090       1100       1110       1120       1130       1140 
LLERFYDPLA GTVFVDFGFQ LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG 

      1150       1160       1170       1180       1190       1200 
DNSRVVSQDE IVSAAKAANI HPFIETLPHK YETRVGDKGT QLSGGQKQRI AIARALIRQP 

      1210       1220       1230       1240       1250       1260 
QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV VFQNGRVKEH 

      1270       1280 
GTHQQLLAQK GIYFSMVSVQ AGTQNL 

« Hide

Isoform 2 [UniParc].

Checksum: 3D58C98B5C8D6087
Show »

FASTA1,279140,682
Isoform 3 [UniParc].

Checksum: 48626DBEDA98930C
Show »

FASTA1,232135,259

References

« Hide 'large scale' references
[1]"Sequence of mdr3 cDNA encoding a human P-glycoprotein."
van der Bliek A.M., Kooiman P.M., Schneider C., Borst P.
Gene 71:401-411(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]NIEHS SNPs program
Submitted (OCT-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-238; VAL-263; ASP-528; GLN-590; ASN-651; GLY-652 AND GLN-788.
[3]"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. expand/collapse author list , 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].
[4]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"Characterization of the promoter region of the human MDR3 P-glycoprotein gene."
Smit J.J., Mol C.A., van Deemter L., Wagenaar E., Schinkel A.H., Borst P.
Biochim. Biophys. Acta 1261:44-56(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-72 (ISOFORM 1).
Tissue: Liver.
[7]"The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver."
van der Bliek A.M., Baas F., ten Houte de Lange T., Kooiman P.M., van der Velde-Koerts T., Borst P.
EMBO J. 6:3325-3331(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 856-1286 (ISOFORM 1), ALTERNATIVE SPLICING.
[8]"Structure of the human MDR3 gene and physical mapping of the human MDR locus."
Lincke C.R., Smit J.J.M., van der Velde-Koerts T., Borst P.
J. Biol. Chem. 266:5303-5310(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: GENE STRUCTURE.
[9]"Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis."
de Vree J.M.L., Jacquemin E., Sturm E., Cresteil D., Bosma P.J., Aten J., Deleuze J.-F., Desrochers M., Burdelski M., Bernard O., Oude Elferink R.P.J., Hadchouel M.
Proc. Natl. Acad. Sci. U.S.A. 95:282-287(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PFIC3.
[10]"Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking."
Dixon P.H., Weerasekera N., Linton K.J., Donaldson O., Chambers J., Egginton E., Weaver J., Nelson-Piercy C., de Swiet M., Warnes G., Elias E., Higgins C.F., Johnston D.G., McCarthy M.I., Williamson C.
Hum. Mol. Genet. 9:1209-1217(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ICP3 ASP-546, CHARACTERIZATION OF VARIANT ICP3 ASP-546.
[11]"The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood."
Jacquemin E., De Vree J.M.L., Cresteil D., Sokal E.M., Sturm E., Dumont M., Scheffer G.L., Paul M., Burdelski M., Bosma P.J., Bernard O., Hadchouel M., Elferink R.P.
Gastroenterology 120:1448-1458(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PFIC3 ARG-138; ILE-346; GLY-395; ALA-424; MET-425; PHE-541; ARG-556; GLY-564; SER-711 AND SER-983, VARIANT GLY-652.
[12]"MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis."
Rosmorduc O., Hermelin B., Poupon R.
Gastroenterology 120:1459-1467(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GBD1 PHE-320 AND SER-1168, VARIANT ALA-175.
[13]"A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis."
Lucena J.-F., Herrero J.I., Quiroga J., Sangro B., Garcia-Foncillas J., Zabalegui N., Sola J., Herraiz M., Medina J.F., Prieto J.
Gastroenterology 124:1037-1042(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PFIC3 ASP-535.
[14]"ABCB4 gene mutation-associated cholelithiasis in adults."
Rosmorduc O., Hermelin B., Boelle P.Y., Parc R., Taboury J., Poupon R.
Gastroenterology 125:452-459(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GBD1 ILE-165; THR-301; PHE-320; GLN-591; THR-934 AND SER-1168, VARIANTS ALA-175; ASP-528; GLN-590; GLY-652; SER-742 AND GLN-788.
[15]"ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy."
Muellenbach R., Linton K.J., Wiltshire S., Weerasekera N., Chambers J., Elias E., Higgins C.F., Johnston D.G., McCarthy M.I., Williamson C.
J. Med. Genet. 40:E70-E70(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ICP3 LYS-150, VARIANT GLY-652.
[16]"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., Lang T., Meier Y., Zodan-Marin T., Jung D., Breymann C., Zimmermann R., Kenngott S., Beuers U., Reichel C., Kerb R., Penger A., Meier P.J., Kullak-Ublick G.A.
Pharmacogenetics 14:91-102(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ALA-175; ASP-528; GLY-652 AND MET-775, VARIANTS ICP3 PHE-320 AND GLU-762.
[17]"Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11)."
Lang T., Haberl M., Jung D., Drescher A., Schlagenhaufer R., Keil A., Mornhinweg E., Stieger B., Kullak-Ublick G.A., Kerb R.
Drug Metab. Dispos. 34:1582-1599(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLU-87; SER-95; ALA-175; VAL-367; GLY-450; GLN-590 AND GLY-652.
[18]"Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury."
Lang C., Meier Y., Stieger B., Beuers U., Lang T., Kerb R., Kullak-Ublick G.A., Meier P.J., Pauli-Magnus C.
Pharmacogenet. Genomics 17:47-60(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ALA-175; GLN-590; GLY-652; LEU-764 AND GLN-1082.
+Additional computationally mapped references.

Web resources

NIEHS-SNPs
ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M23234 mRNA. Translation: AAA36207.1.
EF034088 Genomic DNA. Translation: ABJ53424.1.
AC005045 Genomic DNA. No translation available.
AC005068 Genomic DNA. No translation available.
AC006154 Genomic DNA. No translation available.
CH236949 Genomic DNA. Translation: EAL24174.1.
CH236949 Genomic DNA. Translation: EAL24175.1.
CH236949 Genomic DNA. Translation: EAL24176.1.
CH471091 Genomic DNA. Translation: EAW76946.1.
CH471091 Genomic DNA. Translation: EAW76947.1.
CH471091 Genomic DNA. Translation: EAW76948.1.
CH471091 Genomic DNA. Translation: EAW76950.1.
CH471091 Genomic DNA. Translation: EAW76951.1.
CH471091 Genomic DNA. Translation: EAW76952.1.
Z35284 mRNA. Translation: CAA84542.1. Sequence problems.
X06181 mRNA. Translation: CAA29547.1.
CCDSCCDS5605.1. [P21439-2]
CCDS5606.1. [P21439-1]
CCDS5607.1. [P21439-3]
PIRDVHU3. JS0051.
RefSeqNP_000434.1. NM_000443.3. [P21439-2]
NP_061337.1. NM_018849.2. [P21439-1]
NP_061338.1. NM_018850.2. [P21439-3]
UniGeneHs.654403.

3D structure databases

ProteinModelPortalP21439.
SMRP21439. Positions 40-632.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111263. 2 interactions.
IntActP21439. 3 interactions.
STRING9606.ENSP00000265723.

Chemistry

ChEMBLCHEMBL1743129.

Protein family/group databases

TCDB3.A.1.201.3. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteP21439.

Polymorphism databases

DMDM126302568.

Proteomic databases

PaxDbP21439.
PRIDEP21439.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265723; ENSP00000265723; ENSG00000005471. [P21439-1]
ENST00000358400; ENSP00000351172; ENSG00000005471. [P21439-3]
ENST00000359206; ENSP00000352135; ENSG00000005471. [P21439-2]
ENST00000453593; ENSP00000392983; ENSG00000005471. [P21439-3]
ENST00000545634; ENSP00000437465; ENSG00000005471. [P21439-2]
GeneID5244.
KEGGhsa:5244.
UCSCuc003uiv.1. human. [P21439-1]
uc003uiw.1. human. [P21439-2]
uc003uix.1. human.

Organism-specific databases

CTD5244.
GeneCardsGC07M087031.
HGNCHGNC:45. ABCB4.
HPACAB004498.
HPA049395.
HPA053288.
MIM171060. gene.
600803. phenotype.
602347. phenotype.
614972. phenotype.
neXtProtNX_P21439.
Orphanet69665. Intrahepatic cholestasis of pregnancy.
69663. Low phospholipid associated cholelithiasis.
79305. Progressive familial intrahepatic cholestasis type 3.
PharmGKBPA268.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1132.
HOVERGENHBG080809.
InParanoidP21439.
KOK05659.
OMASERSEIR.
OrthoDBEOG7Z3F4H.
PhylomeDBP21439.
TreeFamTF105193.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressP21439.
BgeeP21439.
CleanExHS_ABCB4.
GenevestigatorP21439.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. 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]
PfamPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
PROSITEPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABCB4.
GenomeRNAi5244.
NextBio20258.
PROP21439.
SOURCESearch...

Entry information

Entry nameMDR3_HUMAN
AccessionPrimary (citable) accession number: P21439
Secondary accession number(s): A0A2V7 expand/collapse secondary AC list , A4D1D3, A4D1D4, A4D1D5, D6W5P3, D6W5P4, Q14813
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: February 20, 2007
Last modified: July 9, 2014
This is version 151 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

Strains

Controlled vocabulary of strains

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM