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Protein

Phosphatidylcholine translocator ABCB4

Gene

ABCB4

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

Functioni

Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:7957936, PubMed:8898203, PubMed:9366571, PubMed:17523162, PubMed:23468132, PubMed:24806754, PubMed:24723470, PubMed:24594635, PubMed:21820390). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to fu rther enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). May promote biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity).By similarity10 Publications

Catalytic activityi

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

Enzyme regulationi

Translocation activity is inhibited by the ATPase inhibitor vanadate and the calcium channel blocker verapamil (PubMed:17523162, PubMed:23468132). Translocation activity is enhanced by the addition of the bile salt taurocholate (PubMed:17523162, PubMed:23468132).2 Publications

Regions

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

GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • phosphatidylcholine-translocating ATPase activity Source: UniProtKB
  • phosphatidylcholine transporter activity Source: UniProtKB
  • xenobiotic-transporting ATPase activity Source: UniProtKB-EC

GO - Biological processi

  • bile acid secretion Source: UniProtKB
  • cellular lipid metabolic process Source: Reactome
  • cellular response to bile acid Source: UniProtKB
  • lipid homeostasis Source: UniProtKB
  • lipid metabolic process Source: ProtInc
  • phospholipid translocation Source: UniProtKB
  • positive regulation of cholesterol transport Source: UniProtKB
  • positive regulation of phospholipid translocation Source: UniProtKB
  • positive regulation of phospholipid transport Source: UniProtKB
  • response to drug Source: ProtInc
  • response to fenofibrate Source: UniProtKB
  • small molecule metabolic process Source: Reactome
  • transmembrane transport Source: GO_Central
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid transport, Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1989781. PPARA activates gene expression.
R-HSA-382556. ABC-family proteins mediated transport.
R-HSA-5678771. Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1.

Protein family/group databases

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

Chemistry

SwissLipidsiSLP:000000384.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylcholine translocator ABCB4Curated
Alternative name(s):
ATP-binding cassette sub-family B member 4Imported
Multidrug resistance protein 31 Publication (EC:3.6.3.44)
P-glycoprotein 3By similarity
Gene namesi
Name:ABCB4Imported
Synonyms:MDR31 Publication, PGY3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:45. ABCB4.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • clathrin-coated vesicle Source: UniProtKB-SubCell
  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • intercellular canaliculus Source: Ensembl
  • membrane Source: ProtInc
  • membrane raft Source: UniProtKB-SubCell
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Involvement in diseasei

Cholestasis, progressive familial intrahepatic, 3 (PFIC3)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
See also OMIM:602347
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti68 – 681G → R in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication
VAR_073731
Natural varianti70 – 701G → R in PFIC3. 1 Publication
VAR_073732
Natural varianti73 – 731L → V in PFIC3 and GBD1. 2 Publications
VAR_073734
Natural varianti126 – 1261G → E in PFIC3. 1 Publication
VAR_073738
Natural varianti138 – 1381W → R in PFIC3. 1 Publication
VAR_043080
Natural varianti201 – 2011T → M in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 Publication
VAR_073740
Natural varianti250 – 2501A → P in PFIC3. 1 Publication
VAR_073741
Natural varianti286 – 2861A → V in PFIC3 and GBD1; does not alter plasma membrane location; inhibits efflux activity for PC. 4 Publications
VAR_073742
Natural varianti320 – 3201S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 Publications
VAR_023502
Natural varianti346 – 3461S → I in PFIC3. 1 Publication
VAR_043084
Natural varianti357 – 3571F → L in PFIC3. 1 Publication
VAR_073743
Natural varianti364 – 3641A → V in PFIC3. 1 Publication
VAR_073744
Natural varianti395 – 3951E → G in PFIC3. 1 Publication
VAR_043086
Natural varianti403 – 4031Y → H in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 3 Publications
VAR_073745
Natural varianti424 – 4241T → A in PFIC3. 1 Publication
VAR_043087
Natural varianti425 – 4251V → M in PFIC3. 1 Publication
VAR_043088
Natural varianti459 – 4591D → H in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication
VAR_073748
Natural varianti475 – 4751V → A in PFIC3. 1 Publication
VAR_073749
Natural varianti479 – 4791P → L in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 Publication
VAR_073750
Natural varianti481 – 4811L → R in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 1 Publication
VAR_073751
Natural varianti511 – 5111A → T in PFIC3 and GBD1. 2 Publications
VAR_073753
Natural varianti535 – 5351G → D in PFIC3. 1 Publication
VAR_043091
Natural varianti541 – 5411I → F in PFIC3 and GBD1. 2 Publications
VAR_043092
Natural varianti556 – 5561L → R in PFIC3. 1 Publication
VAR_043093
Natural varianti558 – 5581E → K in PFIC3. 1 Publication
VAR_073757
Natural varianti564 – 5641D → G in PFIC3. 1 Publication
VAR_043094
Natural varianti593 – 5931T → A in PFIC3. 1 Publication
VAR_073759
Natural varianti630 – 6301M → V in PFIC3. 1 Publication
VAR_073761
Natural varianti701 – 7011L → P in PFIC3. 1 Publication
VAR_073763
Natural varianti711 – 7111F → S in PFIC3. 1 Publication
VAR_043097
Natural varianti715 – 7151T → I in PFIC3. 1 Publication
VAR_073764
Natural varianti723 – 7231G → E in PFIC3. 1 Publication
VAR_073765
Natural varianti726 – 7261P → T in PFIC3. 1 Publication
VAR_073767
Natural varianti737 – 7371A → V in PFIC3. 1 Publication
VAR_073769
Natural varianti840 – 8401A → D in PFIC3. 1 Publication
VAR_073770
Natural varianti954 – 9541G → S in PFIC3. 1 Publication
VAR_073771
Natural varianti978 – 9781S → P in PFIC3; alters efflux activity for PC. 1 Publication
VAR_073774
Natural varianti983 – 9831G → S in PFIC3. 1 Publication
Corresponds to variant rs56187107 [ dbSNP | Ensembl ].
VAR_043103
Natural varianti1125 – 11251E → K in PFIC3; alters efflux activity for PC. 1 Publication
VAR_073776
Natural varianti1193 – 11931A → T in PFIC3. 1 Publication
VAR_073777
Cholestasis of pregnancy, intrahepatic 3 (ICP3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614972
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501R → K in ICP3. 1 Publication
VAR_043081
Natural varianti320 – 3201S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 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)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionOne 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.
See also OMIM:600803
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341T → M in GBD1; reduces efflux activity for PC in a phosphorylation-dependent manner. 2 Publications
VAR_073728
Natural varianti47 – 471R → G in GBD1; partly retained intracellularly; reduces efflux activity for PC in a phosphorylation-dependent manner. 3 Publications
VAR_073729
Natural varianti71 – 711L → H in GBD1. 1 Publication
VAR_073733
Natural varianti73 – 731L → V in PFIC3 and GBD1. 2 Publications
VAR_073734
Natural varianti78 – 781F → C in GBD1. 1 Publication
VAR_073735
Natural varianti99 – 991S → F in GBD1. 1 Publication
VAR_073736
Natural varianti124 – 1241G → S in GBD1. 1 Publication
VAR_073737
Natural varianti154 – 1541F → S in GBD1. 1 Publication
VAR_073739
Natural varianti165 – 1651F → I in GBD1. 2 Publications
VAR_043082
Natural varianti286 – 2861A → V in PFIC3 and GBD1; does not alter plasma membrane location; inhibits efflux activity for PC. 4 Publications
VAR_073742
Natural varianti301 – 3011M → T in GBD1. 2 Publications
VAR_043083
Natural varianti320 – 3201S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 Publications
VAR_023502
Natural varianti406 – 4061R → G in GBD1. 1 Publication
VAR_073746
Natural varianti510 – 5101N → S in GBD1. 1 Publication
VAR_073752
Natural varianti511 – 5111A → T in PFIC3 and GBD1. 2 Publications
VAR_073753
Natural varianti513 – 5131E → K in GBD1. 1 Publication
VAR_073754
Natural varianti528 – 5281E → D in GBD1; unknown pathological significance. 5 Publications
Corresponds to variant rs8187797 [ dbSNP | Ensembl ].
VAR_043090
Natural varianti541 – 5411I → F in PFIC3 and GBD1. 2 Publications
VAR_043092
Natural varianti545 – 5451R → H in GBD1. 1 Publication
VAR_073755
Natural varianti549 – 5491R → H in GBD1. 1 Publication
VAR_073756
Natural varianti589 – 5891H → T in GBD1; requires 2 nucleotide substitutions. 1 Publication
VAR_073758
Natural varianti591 – 5911L → Q in GBD1. 2 Publications
VAR_043096
Natural varianti593 – 5931T → M in GBD1. 1 Publication
VAR_073760
Natural varianti647 – 6471E → K in GBD1. 1 Publication
VAR_073762
Natural varianti726 – 7261P → L in GBD1. 1 Publication
VAR_073766
Natural varianti729 – 7291S → L in GBD1. 1 Publication
VAR_073768
Natural varianti975 – 9751L → V in GBD1. 1 Publication
VAR_073773
Natural varianti1084 – 10841R → W in GBD1. 1 Publication
VAR_073775
Natural varianti1161 – 11611Missing in GBD1.
VAR_043105
Natural varianti1168 – 11681P → S in GBD1. 2 Publications
VAR_023504

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi34 – 341T → D: Does not inhibit efflux activity for PC. 1 Publication
Mutagenesisi44 – 441T → A: Reduces efflux activity for PC. Does not alter apical membrane location. 1 Publication
Mutagenesisi49 – 491S → A: Reduces efflux activity for PC. Does not alter apical membrane location. 1 Publication
Mutagenesisi435 – 4351K → M: Inhibits efflux activity for PC and cholesterol, but does not alter glycosylation and surface expression in the presence of taurocholate. 1 Publication
Mutagenesisi953 – 9531A → D: Accumulates predominantly in intracellular compartments with only a small fraction at the plasma membrane and inhibits partially the efflux activity for PC. 1 Publication
Mutagenesisi1075 – 10751K → M: Inhibits efflux activity for PC and cholesterol, but does not alter glycosylation and surface expression in the presence of taurocholate. 1 Publication

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

MalaCardsiABCB4.
MIMi600803. phenotype.
602347. phenotype.
614972. phenotype.
Orphaneti69665. Intrahepatic cholestasis of pregnancy.
69663. Low phospholipid associated cholelithiasis.
79305. Progressive familial intrahepatic cholestasis type 3.
PharmGKBiPA268.

Chemistry

ChEMBLiCHEMBL1743129.
DrugBankiDB01394. Colchicine.
DB06414. Etravirine.
DB06207. Silodosin.

Polymorphism and mutation databases

BioMutaiABCB4.
DMDMi126302568.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12861286Phosphatidylcholine translocator ABCB4PRO_0000093333Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei27 – 271PhosphoserineBy similarity
Modified residuei34 – 341Phosphothreonine1 Publication
Glycosylationi91 – 911N-linked (GlcNAc...)Sequence analysis
Glycosylationi97 – 971N-linked (GlcNAc...)Sequence analysis

Post-translational modificationi

Phosphorylated (PubMed:24723470). Phosphorylation on Thr-34 is required for PC efflux activity. Phosphorylation occurs on serine and threonine residues in a protein kinase A- or C-dependent manner (PubMed:24723470). May be phosphorylated on Thr-44 and Ser-49 (PubMed:24723470).1 Publication
Glycosylated (PubMed:17523162, PubMed:24723470, PubMed:21820390).3 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP21439.
PRIDEiP21439.

PTM databases

iPTMnetiP21439.
PhosphoSiteiP21439.

Expressioni

Inductioni

Up-regulated by PPARA (PubMed:24122873). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate (at protein level). Up-regulated by bezafibrate (PubMed:15258199). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate, bezafibrate and gemfibrozil (PubMed:24122873).2 Publications

Gene expression databases

BgeeiP21439.
CleanExiHS_ABCB4.
ExpressionAtlasiP21439. baseline and differential.
GenevisibleiP21439. HS.

Organism-specific databases

HPAiCAB004498.
HPA049395.
HPA053288.

Interactioni

Subunit structurei

May interact with GNB2L1 (PubMed:19674157). Interacts with HAX1 (By similarity).By similarity1 Publication

Protein-protein interaction databases

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

Structurei

3D structure databases

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

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

eggNOGiKOG0055. Eukaryota.
COG1132. LUCA.
GeneTreeiENSGT00530000062896.
HOVERGENiHBG080809.
InParanoidiP21439.
KOiK05659.
OMAiSRKYQNG.
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.
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. AlignAdd to basket

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

        10         20         30         40         50
MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD
60 70 80 90 100
WQDKLFMSLG TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL
110 120 130 140 150
SLLNPGKILE EEMTRYAYYY SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR
160 170 180 190 200
QKFFHAILRQ EIGWFDINDT TELNTRLTDD ISKISEGIGD KVGMFFQAVA
210 220 230 240 250
TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA FSDKELAAYA
260 270 280 290 300
KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
310 320 330 340 350
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA
360 370 380 390 400
APCIDAFANA RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH
410 420 430 440 450
FSYPSRANVK ILKGLNLKVQ SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE
460 470 480 490 500
GTINIDGQDI RNFNVNYLRE IIGVVSQEPV LFSTTIAENI CYGRGNVTMD
510 520 530 540 550
EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR IAIARALVRN
560 570 580 590 600
PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
610 620 630 640 650
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA
660 670 680 690 700
TRMAPNGWKS RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV
710 720 730 740 750
LKLNKTEWPY FVVGTVCAIA NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK
760 770 780 790 800
CNIFSLIFLF LGIISFFTFF LQGFTFGKAG EILTRRLRSM AFKAMLRQDM
810 820 830 840 850
SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA NLGTGIIISF
860 870 880 890 900
IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
910 920 930 940 950
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF
960 970 980 990 1000
SYAGCFRFGA YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA
1010 1020 1030 1040 1050
KLSAAHLFML FERQPLIDSY SEEGLKPDKF EGNITFNEVV FNYPTRANVP
1060 1070 1080 1090 1100
VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ LLERFYDPLA GTVFVDFGFQ
1110 1120 1130 1140 1150
LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG DNSRVVSQDE
1160 1170 1180 1190 1200
IVSAAKAANI HPFIETLPHK YETRVGDKGT QLSGGQKQRI AIARALIRQP
1210 1220 1230 1240 1250
QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV
1260 1270 1280
VFQNGRVKEH GTHQQLLAQK GIYFSMVSVQ AGTQNL
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.Probable cloning artifact.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341T → M in GBD1; reduces efflux activity for PC in a phosphorylation-dependent manner. 2 Publications
VAR_073728
Natural varianti47 – 471R → G in GBD1; partly retained intracellularly; reduces efflux activity for PC in a phosphorylation-dependent manner. 3 Publications
VAR_073729
Natural varianti47 – 471R → Q Found in patients with cholangitis; unknown pathological significance. 1 Publication
VAR_073730
Natural varianti68 – 681G → R in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication
VAR_073731
Natural varianti70 – 701G → R in PFIC3. 1 Publication
VAR_073732
Natural varianti71 – 711L → H in GBD1. 1 Publication
VAR_073733
Natural varianti73 – 731L → V in PFIC3 and GBD1. 2 Publications
VAR_073734
Natural varianti78 – 781F → C in GBD1. 1 Publication
VAR_073735
Natural varianti87 – 871D → E.1 Publication
VAR_043078
Natural varianti95 – 951P → S.1 Publication
VAR_043079
Natural varianti99 – 991S → F in GBD1. 1 Publication
VAR_073736
Natural varianti124 – 1241G → S in GBD1. 1 Publication
VAR_073737
Natural varianti126 – 1261G → E in PFIC3. 1 Publication
VAR_073738
Natural varianti138 – 1381W → R in PFIC3. 1 Publication
VAR_043080
Natural varianti150 – 1501R → K in ICP3. 1 Publication
VAR_043081
Natural varianti154 – 1541F → S in GBD1. 1 Publication
VAR_073739
Natural varianti165 – 1651F → I in GBD1. 2 Publications
VAR_043082
Natural varianti175 – 1751T → A Found in patients with gallbladder and cholestasis; unknown pathological significance. 8 Publications
Corresponds to variant rs58238559 [ dbSNP | Ensembl ].
VAR_023501
Natural varianti201 – 2011T → M in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 Publication
VAR_073740
Natural varianti238 – 2381L → V.1 Publication
Corresponds to variant rs45596335 [ dbSNP | Ensembl ].
VAR_020223
Natural varianti250 – 2501A → P in PFIC3. 1 Publication
VAR_073741
Natural varianti263 – 2631I → V.1 Publication
Corresponds to variant rs45547936 [ dbSNP | Ensembl ].
VAR_030763
Natural varianti286 – 2861A → V in PFIC3 and GBD1; does not alter plasma membrane location; inhibits efflux activity for PC. 4 Publications
VAR_073742
Natural varianti301 – 3011M → T in GBD1. 2 Publications
VAR_043083
Natural varianti320 – 3201S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 Publications
VAR_023502
Natural varianti346 – 3461S → I in PFIC3. 1 Publication
VAR_043084
Natural varianti357 – 3571F → L in PFIC3. 1 Publication
VAR_073743
Natural varianti364 – 3641A → V in PFIC3. 1 Publication
VAR_073744
Natural varianti367 – 3671I → V.1 Publication
VAR_043085
Natural varianti395 – 3951E → G in PFIC3. 1 Publication
VAR_043086
Natural varianti403 – 4031Y → H in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 3 Publications
VAR_073745
Natural varianti406 – 4061R → G in GBD1. 1 Publication
VAR_073746
Natural varianti406 – 4061R → Q Found in patients with cholangitis; unknown pathological significance. 1 Publication
VAR_073747
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 varianti459 – 4591D → H in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication
VAR_073748
Natural varianti475 – 4751V → A in PFIC3. 1 Publication
VAR_073749
Natural varianti479 – 4791P → L in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 Publication
VAR_073750
Natural varianti481 – 4811L → R in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 1 Publication
VAR_073751
Natural varianti510 – 5101N → S in GBD1. 1 Publication
VAR_073752
Natural varianti511 – 5111A → T in PFIC3 and GBD1. 2 Publications
VAR_073753
Natural varianti513 – 5131E → K in GBD1. 1 Publication
VAR_073754
Natural varianti528 – 5281E → D in GBD1; unknown pathological significance. 5 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 and GBD1. 2 Publications
VAR_043092
Natural varianti545 – 5451R → H in GBD1. 1 Publication
VAR_073755
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 varianti549 – 5491R → H in GBD1. 1 Publication
VAR_073756
Natural varianti556 – 5561L → R in PFIC3. 1 Publication
VAR_043093
Natural varianti558 – 5581E → K in PFIC3. 1 Publication
VAR_073757
Natural varianti564 – 5641D → G in PFIC3. 1 Publication
VAR_043094
Natural varianti589 – 5891H → T in GBD1; requires 2 nucleotide substitutions. 1 Publication
VAR_073758
Natural varianti590 – 5901R → Q Found in patients with gallbladder and cholestasis; unknown pathological significance. 7 Publications
Corresponds to variant rs45575636 [ dbSNP | Ensembl ].
VAR_043095
Natural varianti591 – 5911L → Q in GBD1. 2 Publications
VAR_043096
Natural varianti593 – 5931T → A in PFIC3. 1 Publication
VAR_073759
Natural varianti593 – 5931T → M in GBD1. 1 Publication
VAR_073760
Natural varianti630 – 6301M → V in PFIC3. 1 Publication
VAR_073761
Natural varianti647 – 6471E → K in GBD1. 1 Publication
VAR_073762
Natural varianti651 – 6511T → N.1 Publication
Corresponds to variant rs45476795 [ dbSNP | Ensembl ].
VAR_030765
Natural varianti652 – 6521R → G Found in patients with gallbladder and cholestasis; unknown pathological significance. 9 Publications
Corresponds to variant rs2230028 [ dbSNP | Ensembl ].
VAR_020225
Natural varianti701 – 7011L → P in PFIC3. 1 Publication
VAR_073763
Natural varianti711 – 7111F → S in PFIC3. 1 Publication
VAR_043097
Natural varianti715 – 7151T → I in PFIC3. 1 Publication
VAR_073764
Natural varianti723 – 7231G → E in PFIC3. 1 Publication
VAR_073765
Natural varianti726 – 7261P → L in GBD1. 1 Publication
VAR_073766
Natural varianti726 – 7261P → T in PFIC3. 1 Publication
VAR_073767
Natural varianti729 – 7291S → L in GBD1. 1 Publication
VAR_073768
Natural varianti737 – 7371A → V in PFIC3. 1 Publication
VAR_073769
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 Found in patients with cholangitis; unknown pathological significance. 3 Publications
VAR_043101
Natural varianti788 – 7881R → Q Found in patients with gallbladder and cholestasis; unknown pathological significance. 3 Publications
Corresponds to variant rs8187801 [ dbSNP | Ensembl ].
VAR_024359
Natural varianti840 – 8401A → D in PFIC3. 1 Publication
VAR_073770
Natural varianti934 – 9341A → T Found in patients with gallbladder and cholestasis; unknown pathological significance. 2 Publications
Corresponds to variant rs61730509 [ dbSNP | Ensembl ].
VAR_043102
Natural varianti954 – 9541G → S in PFIC3. 1 Publication
VAR_073771
Natural varianti964 – 9641V → T Requires 2 nucleotide substitutions; found in patients with cholangitis; unknown pathological significance. 1 Publication
VAR_073772
Natural varianti975 – 9751L → V in GBD1. 1 Publication
VAR_073773
Natural varianti978 – 9781S → P in PFIC3; alters efflux activity for PC. 1 Publication
VAR_073774
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