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P21439

- MDR3_HUMAN

UniProt

P21439 - MDR3_HUMAN

Protein

Multidrug resistance protein 3

Gene

ABCB4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 2 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    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 activityi

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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi429 – 4368ATP 1PROSITE-ProRule annotation
    Nucleotide bindingi1069 – 10768ATP 2PROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity, coupled to transmembrane movement of substances Source: RefGenome
    2. ATP binding Source: UniProtKB-KW
    3. xenobiotic-transporting ATPase activity Source: UniProtKB-EC

    GO - Biological processi

    1. cellular lipid metabolic process Source: Reactome
    2. lipid metabolic process Source: ProtInc
    3. response to drug Source: ProtInc
    4. small molecule metabolic process Source: Reactome
    5. transmembrane transport Source: RefGenome
    6. transport Source: ProtInc

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_116145. PPARA activates gene expression.

    Protein family/group databases

    TCDBi3.A.1.201.3. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended 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 namesi
    Name:ABCB4
    Synonyms:MDR3, PGY3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:45. ABCB4.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: RefGenome
    2. integral component of plasma membrane Source: ProtInc
    3. intercellular canaliculus Source: Ensembl
    4. membrane Source: ProtInc
    5. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti138 – 1381W → R in PFIC3. 1 Publication
    VAR_043080
    Natural varianti346 – 3461S → I in PFIC3. 1 Publication
    VAR_043084
    Natural varianti395 – 3951E → G in PFIC3. 1 Publication
    VAR_043086
    Natural varianti424 – 4241T → A in PFIC3. 1 Publication
    VAR_043087
    Natural varianti425 – 4251V → M in PFIC3. 1 Publication
    VAR_043088
    Natural varianti535 – 5351G → D in PFIC3. 1 Publication
    VAR_043091
    Natural varianti541 – 5411I → F in PFIC3. 1 Publication
    VAR_043092
    Natural varianti556 – 5561L → R in PFIC3. 1 Publication
    VAR_043093
    Natural varianti564 – 5641D → G in PFIC3. 1 Publication
    VAR_043094
    Natural varianti711 – 7111F → S in PFIC3. 1 Publication
    VAR_043097
    Natural varianti983 – 9831G → S in PFIC3. 1 Publication
    Corresponds to variant rs56187107 [ dbSNP | Ensembl ].
    VAR_043103
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti150 – 1501R → K in ICP3. 1 Publication
    VAR_043081
    Natural varianti320 – 3201S → F in ICP3 and GBD1. 3 Publications
    VAR_023502
    Natural varianti546 – 5461A → D in ICP3; disruption of protein trafficking with subsequent lack of functional protein at the cell surface. 1 Publication
    VAR_023503
    Natural varianti762 – 7621G → E in ICP3. 1 Publication
    VAR_043099
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti165 – 1651F → I in GBD1. 1 Publication
    VAR_043082
    Natural varianti301 – 3011M → T in GBD1. 1 Publication
    VAR_043083
    Natural varianti320 – 3201S → F in ICP3 and GBD1. 3 Publications
    VAR_023502
    Natural varianti591 – 5911L → Q in GBD1. 1 Publication
    VAR_043096
    Natural varianti934 – 9341A → T in GBD1. 1 Publication
    Corresponds to variant rs61730509 [ dbSNP | Ensembl ].
    VAR_043102
    Natural varianti1161 – 11611Missing in GBD1.
    VAR_043105
    Natural varianti1168 – 11681P → S in GBD1. 2 Publications
    VAR_023504

    Keywords - Diseasei

    Disease mutation, Intrahepatic cholestasis

    Organism-specific databases

    MIMi600803. phenotype.
    602347. phenotype.
    614972. phenotype.
    Orphaneti69665. Intrahepatic cholestasis of pregnancy.
    69663. Low phospholipid associated cholelithiasis.
    79305. Progressive familial intrahepatic cholestasis type 3.
    PharmGKBiPA268.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12861286Multidrug resistance protein 3PRO_0000093333Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi91 – 911N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi97 – 971N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP21439.
    PRIDEiP21439.

    PTM databases

    PhosphoSiteiP21439.

    Expressioni

    Gene expression databases

    ArrayExpressiP21439.
    BgeeiP21439.
    CleanExiHS_ABCB4.
    GenevestigatoriP21439.

    Organism-specific databases

    HPAiCAB004498.
    HPA049395.
    HPA053288.

    Interactioni

    Subunit structurei

    Interacts with HAX1.By similarity

    Protein-protein interaction databases

    BioGridi111263. 2 interactions.
    IntActiP21439. 3 interactions.
    STRINGi9606.ENSP00000265723.

    Structurei

    3D structure databases

    ProteinModelPortaliP21439.
    SMRiP21439. Positions 40-632.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5050CytoplasmicBy similarityAdd
    BLAST
    Topological domaini74 – 11845ExtracellularBy similarityAdd
    BLAST
    Topological domaini140 – 18849CytoplasmicBy similarityAdd
    BLAST
    Topological domaini211 – 2177ExtracellularBy similarity
    Topological domaini239 – 29658CytoplasmicBy similarityAdd
    BLAST
    Topological domaini319 – 33214ExtracellularBy similarityAdd
    BLAST
    Topological domaini355 – 711357CytoplasmicBy similarityAdd
    BLAST
    Topological domaini733 – 75523ExtracellularBy similarityAdd
    BLAST
    Topological domaini777 – 83155CytoplasmicBy similarityAdd
    BLAST
    Topological domaini853 – 8531ExtracellularBy similarity
    Topological domaini874 – 93360CytoplasmicBy similarityAdd
    BLAST
    Topological domaini957 – 97216ExtracellularBy similarityAdd
    BLAST
    Topological domaini995 – 1286292CytoplasmicBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei51 – 7323HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei119 – 13921HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei189 – 21022HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei218 – 23821HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei297 – 31822HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei333 – 35422HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei712 – 73221HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei756 – 77621HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei832 – 85221HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei854 – 87320HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei934 – 95623HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei973 – 99422HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini57 – 359303ABC transmembrane type-1 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini394 – 630237ABC transporter 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini711 – 999289ABC transmembrane type-1 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1034 – 1279246ABC transporter 2PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni625 – 64723Interaction with HAX1By similarityAdd
    BLAST

    Sequence similaritiesi

    Contains 2 ABC transmembrane type-1 domains.PROSITE-ProRule annotation
    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1132.
    HOVERGENiHBG080809.
    InParanoidiP21439.
    KOiK05659.
    OMAiSERSEIR.
    OrthoDBiEOG7Z3F4H.
    PhylomeDBiP21439.
    TreeFamiTF105193.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR003593. 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]
    PfamiPF00664. ABC_membrane. 2 hits.
    PF00005. ABC_tran. 2 hits.
    [Graphical view]
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 2 hits.
    PROSITEiPS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 2 hits.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P21439-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD     50
    WQDKLFMSLG TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL 100
    SLLNPGKILE EEMTRYAYYY SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR 150
    QKFFHAILRQ EIGWFDINDT TELNTRLTDD ISKISEGIGD KVGMFFQAVA 200
    TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA FSDKELAAYA 250
    KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS 300
    MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA 350
    APCIDAFANA RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH 400
    FSYPSRANVK ILKGLNLKVQ SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE 450
    GTINIDGQDI RNFNVNYLRE IIGVVSQEPV LFSTTIAENI CYGRGNVTMD 500
    EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR IAIARALVRN 550
    PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI 600
    AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA 650
    TRMAPNGWKS RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV 700
    LKLNKTEWPY FVVGTVCAIA NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK 750
    CNIFSLIFLF LGIISFFTFF LQGFTFGKAG EILTRRLRSM AFKAMLRQDM 800
    SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA NLGTGIIISF 850
    IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI 900
    ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF 950
    SYAGCFRFGA YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA 1000
    KLSAAHLFML FERQPLIDSY SEEGLKPDKF EGNITFNEVV FNYPTRANVP 1050
    VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ LLERFYDPLA GTVFVDFGFQ 1100
    LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG DNSRVVSQDE 1150
    IVSAAKAANI HPFIETLPHK YETRVGDKGT QLSGGQKQRI AIARALIRQP 1200
    QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV 1250
    VFQNGRVKEH GTHQQLLAQK GIYFSMVSVQ AGTQNL 1286
    Length:1,286
    Mass (Da):141,523
    Last modified:February 20, 2007 - v2
    Checksum:i9A9066F2292F2CCF
    GO
    Isoform 2 (identifier: P21439-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1094-1100: Missing.

    Show »
    Length:1,279
    Mass (Da):140,682
    Checksum:i3D58C98B5C8D6087
    GO
    Isoform 3 (identifier: P21439-3) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:1,232
    Mass (Da):135,259
    Checksum:i48626DBEDA98930C
    GO

    Sequence cautioni

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

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti87 – 871D → E.1 Publication
    VAR_043078
    Natural varianti95 – 951P → S.1 Publication
    VAR_043079
    Natural varianti138 – 1381W → R in PFIC3. 1 Publication
    VAR_043080
    Natural varianti150 – 1501R → K in ICP3. 1 Publication
    VAR_043081
    Natural varianti165 – 1651F → I in GBD1. 1 Publication
    VAR_043082
    Natural varianti175 – 1751T → A.5 Publications
    Corresponds to variant rs58238559 [ dbSNP | Ensembl ].
    VAR_023501
    Natural varianti238 – 2381L → V.1 Publication
    Corresponds to variant rs45596335 [ dbSNP | Ensembl ].
    VAR_020223
    Natural varianti263 – 2631I → V.1 Publication
    Corresponds to variant rs45547936 [ dbSNP | Ensembl ].
    VAR_030763
    Natural varianti301 – 3011M → T in GBD1. 1 Publication
    VAR_043083
    Natural varianti320 – 3201S → F in ICP3 and GBD1. 3 Publications
    VAR_023502
    Natural varianti346 – 3461S → I in PFIC3. 1 Publication
    VAR_043084
    Natural varianti367 – 3671I → V.1 Publication
    VAR_043085
    Natural varianti395 – 3951E → G in PFIC3. 1 Publication
    VAR_043086
    Natural varianti424 – 4241T → A in PFIC3. 1 Publication
    VAR_043087
    Natural varianti425 – 4251V → M in PFIC3. 1 Publication
    VAR_043088
    Natural varianti450 – 4501E → G.1 Publication
    VAR_043089
    Natural varianti528 – 5281E → D.3 Publications
    Corresponds to variant rs8187797 [ dbSNP | Ensembl ].
    VAR_043090
    Natural varianti535 – 5351G → D in PFIC3. 1 Publication
    VAR_043091
    Natural varianti541 – 5411I → F in PFIC3. 1 Publication
    VAR_043092
    Natural varianti546 – 5461A → D in ICP3; disruption of protein trafficking with subsequent lack of functional protein at the cell surface. 1 Publication
    VAR_023503
    Natural varianti556 – 5561L → R in PFIC3. 1 Publication
    VAR_043093
    Natural varianti564 – 5641D → G in PFIC3. 1 Publication
    VAR_043094
    Natural varianti590 – 5901R → Q.4 Publications
    Corresponds to variant rs45575636 [ dbSNP | Ensembl ].
    VAR_043095
    Natural varianti591 – 5911L → Q in GBD1. 1 Publication
    VAR_043096
    Natural varianti651 – 6511T → N.1 Publication
    Corresponds to variant rs45476795 [ dbSNP | Ensembl ].
    VAR_030765
    Natural varianti652 – 6521R → G.7 Publications
    Corresponds to variant rs2230028 [ dbSNP | Ensembl ].
    VAR_020225
    Natural varianti711 – 7111F → S in PFIC3. 1 Publication
    VAR_043097
    Natural varianti742 – 7421G → S.1 Publication
    VAR_043098
    Natural varianti762 – 7621G → E in ICP3. 1 Publication
    VAR_043099
    Natural varianti764 – 7641I → L in a heterozygous patient with risperidone-induced cholestasis. 1 Publication
    VAR_043100
    Natural varianti775 – 7751T → M.1 Publication
    VAR_043101
    Natural varianti788 – 7881R → Q.2 Publications
    Corresponds to variant rs8187801 [ dbSNP | Ensembl ].
    VAR_024359
    Natural varianti934 – 9341A → T in GBD1. 1 Publication
    Corresponds to variant rs61730509 [ dbSNP | Ensembl ].
    VAR_043102
    Natural varianti983 – 9831G → S in PFIC3. 1 Publication
    Corresponds to variant rs56187107 [ dbSNP | Ensembl ].
    VAR_043103
    Natural varianti1082 – 10821L → Q in a heterozygous patient with amoxicillin/clavulanic acid-induced cholestasis. 1 Publication
    VAR_043104
    Natural varianti1161 – 11611Missing in GBD1.
    VAR_043105
    Natural varianti1168 – 11681P → S in GBD1. 2 Publications
    VAR_023504

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei929 – 97547Missing in isoform 3. CuratedVSP_046258Add
    BLAST
    Alternative sequencei1094 – 11007Missing in isoform 2 and isoform 3. 1 PublicationVSP_023263

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS5605.1. [P21439-2]
    CCDS5606.1. [P21439-1]
    CCDS5607.1. [P21439-3]
    PIRiJS0051. DVHU3.
    RefSeqiNP_000434.1. NM_000443.3. [P21439-2]
    NP_061337.1. NM_018849.2. [P21439-1]
    NP_061338.1. NM_018850.2. [P21439-3]
    UniGeneiHs.654403.

    Genome annotation databases

    EnsembliENST00000265723; ENSP00000265723; ENSG00000005471. [P21439-1]
    ENST00000358400; ENSP00000351172; ENSG00000005471. [P21439-3]
    ENST00000359206; ENSP00000352135; ENSG00000005471. [P21439-2]
    ENST00000453593; ENSP00000392983; ENSG00000005471. [P21439-3]
    GeneIDi5244.
    KEGGihsa:5244.
    UCSCiuc003uiv.1. human. [P21439-1]
    uc003uiw.1. human. [P21439-2]
    uc003uix.1. human.

    Polymorphism databases

    DMDMi126302568.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs
    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS5605.1. [P21439-2 ]
    CCDS5606.1. [P21439-1 ]
    CCDS5607.1. [P21439-3 ]
    PIRi JS0051. DVHU3.
    RefSeqi NP_000434.1. NM_000443.3. [P21439-2 ]
    NP_061337.1. NM_018849.2. [P21439-1 ]
    NP_061338.1. NM_018850.2. [P21439-3 ]
    UniGenei Hs.654403.

    3D structure databases

    ProteinModelPortali P21439.
    SMRi P21439. Positions 40-632.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111263. 2 interactions.
    IntActi P21439. 3 interactions.
    STRINGi 9606.ENSP00000265723.

    Chemistry

    ChEMBLi CHEMBL1743129.
    DrugBanki DB01394. Colchicine.
    DB06414. Etravirine.
    DB06207. Silodosin.

    Protein family/group databases

    TCDBi 3.A.1.201.3. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei P21439.

    Polymorphism databases

    DMDMi 126302568.

    Proteomic databases

    PaxDbi P21439.
    PRIDEi P21439.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265723 ; ENSP00000265723 ; ENSG00000005471 . [P21439-1 ]
    ENST00000358400 ; ENSP00000351172 ; ENSG00000005471 . [P21439-3 ]
    ENST00000359206 ; ENSP00000352135 ; ENSG00000005471 . [P21439-2 ]
    ENST00000453593 ; ENSP00000392983 ; ENSG00000005471 . [P21439-3 ]
    GeneIDi 5244.
    KEGGi hsa:5244.
    UCSCi uc003uiv.1. human. [P21439-1 ]
    uc003uiw.1. human. [P21439-2 ]
    uc003uix.1. human.

    Organism-specific databases

    CTDi 5244.
    GeneCardsi GC07M087031.
    HGNCi HGNC:45. ABCB4.
    HPAi CAB004498.
    HPA049395.
    HPA053288.
    MIMi 171060. gene.
    600803. phenotype.
    602347. phenotype.
    614972. phenotype.
    neXtProti NX_P21439.
    Orphaneti 69665. Intrahepatic cholestasis of pregnancy.
    69663. Low phospholipid associated cholelithiasis.
    79305. Progressive familial intrahepatic cholestasis type 3.
    PharmGKBi PA268.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1132.
    HOVERGENi HBG080809.
    InParanoidi P21439.
    KOi K05659.
    OMAi SERSEIR.
    OrthoDBi EOG7Z3F4H.
    PhylomeDBi P21439.
    TreeFami TF105193.

    Enzyme and pathway databases

    Reactomei REACT_116145. PPARA activates gene expression.

    Miscellaneous databases

    GeneWikii ABCB4.
    GenomeRNAii 5244.
    NextBioi 20258.
    PROi P21439.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P21439.
    Bgeei P21439.
    CleanExi HS_ABCB4.
    Genevestigatori P21439.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi 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 ]
    Pfami PF00664. ABC_membrane. 2 hits.
    PF00005. ABC_tran. 2 hits.
    [Graphical view ]
    SMARTi SM00382. AAA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 2 hits.
    PROSITEi PS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 2 hits.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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. 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. 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. 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.

    Entry informationi

    Entry nameiMDR3_HUMAN
    AccessioniPrimary (citable) accession number: P21439
    Secondary accession number(s): A0A2V7
    , A4D1D3, A4D1D4, A4D1D5, D6W5P3, D6W5P4, Q14813
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 1, 1991
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 153 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families
    6. Strains
      Controlled vocabulary of strains

    External Data

    Dasty 3