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P21439

- MDR3_HUMAN

UniProt

P21439 - MDR3_HUMAN

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Protein

Multidrug resistance protein 3

Gene
ABCB4, MDR3, PGY3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 1 By similarity
Nucleotide bindingi1069 – 10768ATP 2 By similarity

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5050Cytoplasmic By similarityAdd
BLAST
Transmembranei51 – 7323Helical; By similarityAdd
BLAST
Topological domaini74 – 11845Extracellular By similarityAdd
BLAST
Transmembranei119 – 13921Helical; By similarityAdd
BLAST
Topological domaini140 – 18849Cytoplasmic By similarityAdd
BLAST
Transmembranei189 – 21022Helical; By similarityAdd
BLAST
Topological domaini211 – 2177Extracellular By similarity
Transmembranei218 – 23821Helical; By similarityAdd
BLAST
Topological domaini239 – 29658Cytoplasmic By similarityAdd
BLAST
Transmembranei297 – 31822Helical; By similarityAdd
BLAST
Topological domaini319 – 33214Extracellular By similarityAdd
BLAST
Transmembranei333 – 35422Helical; By similarityAdd
BLAST
Topological domaini355 – 711357Cytoplasmic By similarityAdd
BLAST
Transmembranei712 – 73221Helical; By similarityAdd
BLAST
Topological domaini733 – 75523Extracellular By similarityAdd
BLAST
Transmembranei756 – 77621Helical; By similarityAdd
BLAST
Topological domaini777 – 83155Cytoplasmic By similarityAdd
BLAST
Transmembranei832 – 85221Helical; By similarityAdd
BLAST
Topological domaini853 – 8531Extracellular By similarity
Transmembranei854 – 87320Helical; By similarityAdd
BLAST
Topological domaini874 – 93360Cytoplasmic By similarityAdd
BLAST
Transmembranei934 – 95623Helical; By similarityAdd
BLAST
Topological domaini957 – 97216Extracellular By similarityAdd
BLAST
Transmembranei973 – 99422Helical; By similarityAdd
BLAST
Topological domaini995 – 1286292Cytoplasmic By similarityAdd
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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...) Reviewed prediction
Glycosylationi97 – 971N-linked (GlcNAc...) Reviewed prediction

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.

Family & Domainsi

Domains and Repeats

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

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni625 – 64723Interaction with HAX1 By similarityAdd
BLAST

Sequence similaritiesi

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. VSP_046258Add
BLAST
Alternative sequencei1094 – 11007Missing in isoform 2 and isoform 3. VSP_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]
ENST00000545634; ENSP00000437465; ENSG00000005471. [P21439-2]
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.

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 ]
ENST00000545634 ; ENSP00000437465 ; ENSG00000005471 . [P21439-2 ]
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 152 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

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