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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)DescriptionActionsGraphical viewLength
Nucleotide bindingi429 – 436ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1069 – 1076ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processLipid transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1989781. PPARA activates gene expression.
R-HSA-382556. ABC-family proteins mediated transport.

Protein family/group databases

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

Chemistry databases

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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:45. ABCB4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 50CytoplasmicBy similarityAdd BLAST50
Transmembranei51 – 73HelicalPROSITE-ProRule annotationAdd BLAST23
Topological domaini74 – 118ExtracellularBy similarityAdd BLAST45
Transmembranei119 – 139HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini140 – 188CytoplasmicBy similarityAdd BLAST49
Transmembranei189 – 210HelicalPROSITE-ProRule annotationAdd BLAST22
Topological domaini211 – 217ExtracellularBy similarity7
Transmembranei218 – 238HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini239 – 296CytoplasmicBy similarityAdd BLAST58
Transmembranei297 – 318HelicalPROSITE-ProRule annotationAdd BLAST22
Topological domaini319 – 332ExtracellularBy similarityAdd BLAST14
Transmembranei333 – 354HelicalPROSITE-ProRule annotationAdd BLAST22
Topological domaini355 – 711CytoplasmicBy similarityAdd BLAST357
Transmembranei712 – 732HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini733 – 755ExtracellularBy similarityAdd BLAST23
Transmembranei756 – 776HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini777 – 831CytoplasmicBy similarityAdd BLAST55
Transmembranei832 – 852HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini853ExtracellularBy similarity1
Transmembranei854 – 873HelicalPROSITE-ProRule annotationAdd BLAST20
Topological domaini874 – 933CytoplasmicBy similarityAdd BLAST60
Transmembranei934 – 956HelicalPROSITE-ProRule annotationAdd BLAST23
Topological domaini957 – 972ExtracellularBy similarityAdd BLAST16
Transmembranei973 – 994HelicalPROSITE-ProRule annotationAdd BLAST22
Topological domaini995 – 1286CytoplasmicBy similarityAdd BLAST292

GO - Cellular componenti

  • actin cytoskeleton Source: HPA
  • apical plasma membrane Source: UniProtKB
  • brush border membrane Source: Ensembl
  • clathrin-coated vesicle Source: UniProtKB-SubCell
  • cytoplasm Source: UniProtKB
  • cytosol Source: HPA
  • extracellular exosome Source: UniProtKB
  • focal adhesion Source: HPA
  • integral component of plasma membrane Source: ProtInc
  • intercellular canaliculus Source: Ensembl
  • membrane Source: ProtInc
  • membrane raft Source: UniProtKB-SubCell
  • nucleoplasm Source: HPA
  • plasma membrane Source: UniProtKB

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_07373168G → R in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication1
Natural variantiVAR_07373270G → R in PFIC3. 1 Publication1
Natural variantiVAR_07373473L → V in PFIC3 and GBD1. 2 PublicationsCorresponds to variant dbSNP:rs8187788Ensembl.1
Natural variantiVAR_073738126G → E in PFIC3. 1 Publication1
Natural variantiVAR_043080138W → R in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552781Ensembl.1
Natural variantiVAR_073740201T → M in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 PublicationCorresponds to variant dbSNP:rs753318087Ensembl.1
Natural variantiVAR_073741250A → P in PFIC3. 1 Publication1
Natural variantiVAR_073742286A → V in PFIC3 and GBD1; does not alter plasma membrane location; inhibits efflux activity for PC. 4 PublicationsCorresponds to variant dbSNP:rs765478923Ensembl.1
Natural variantiVAR_023502320S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 PublicationsCorresponds to variant dbSNP:rs72552778Ensembl.1
Natural variantiVAR_043084346S → I in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs67876345Ensembl.1
Natural variantiVAR_073743357F → L in PFIC3. 1 Publication1
Natural variantiVAR_073744364A → V in PFIC3. 1 Publication1
Natural variantiVAR_043086395E → G in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552777Ensembl.1
Natural variantiVAR_073745403Y → H in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 3 PublicationsCorresponds to variant dbSNP:rs121918443Ensembl.1
Natural variantiVAR_043087424T → A in PFIC3. 1 Publication1
Natural variantiVAR_043088425V → M in PFIC3. 1 Publication1
Natural variantiVAR_073748459D → H in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication1
Natural variantiVAR_073749475V → A in PFIC3. 1 Publication1
Natural variantiVAR_073750479P → L in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 Publication1
Natural variantiVAR_073751481L → R in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 1 Publication1
Natural variantiVAR_073753511A → T in PFIC3 and GBD1. 2 Publications1
Natural variantiVAR_043091535G → D in PFIC3. 1 Publication1
Natural variantiVAR_043092541I → F in PFIC3 and GBD1. 2 PublicationsCorresponds to variant dbSNP:rs66904256Ensembl.1
Natural variantiVAR_043093556L → R in PFIC3. 1 Publication1
Natural variantiVAR_073757558E → K in PFIC3. 1 Publication1
Natural variantiVAR_043094564D → G in PFIC3. 1 Publication1
Natural variantiVAR_073759593T → A in PFIC3. 1 Publication1
Natural variantiVAR_073761630M → V in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs372476723Ensembl.1
Natural variantiVAR_073763701L → P in PFIC3. 1 Publication1
Natural variantiVAR_043097711F → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552773Ensembl.1
Natural variantiVAR_073764715T → I in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs138773456Ensembl.1
Natural variantiVAR_073765723G → E in PFIC3. 1 Publication1
Natural variantiVAR_073767726P → T in PFIC3. 1 Publication1
Natural variantiVAR_073769737A → V in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs147134978Ensembl.1
Natural variantiVAR_073770840A → D in PFIC3. 1 Publication1
Natural variantiVAR_073771954G → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs779829759Ensembl.1
Natural variantiVAR_073774978S → P in PFIC3; alters efflux activity for PC. 1 Publication1
Natural variantiVAR_043103983G → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs56187107Ensembl.1
Natural variantiVAR_0737761125E → K in PFIC3; alters efflux activity for PC. 1 Publication1
Natural variantiVAR_0737771193A → T in PFIC3. 1 Publication1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_043081150R → K in ICP3. 1 PublicationCorresponds to variant dbSNP:rs757693457Ensembl.1
Natural variantiVAR_023502320S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 PublicationsCorresponds to variant dbSNP:rs72552778Ensembl.1
Natural variantiVAR_023503546A → D in ICP3; disruption of protein trafficking with subsequent lack of functional protein at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs121918441Ensembl.1
Natural variantiVAR_043099762G → E in ICP3. 1 Publication1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_07372834T → M in GBD1; reduces efflux activity for PC in a phosphorylation-dependent manner. 2 PublicationsCorresponds to variant dbSNP:rs142794414Ensembl.1
Natural variantiVAR_07372947R → G in GBD1; partly retained intracellularly; reduces efflux activity for PC in a phosphorylation-dependent manner. 3 Publications1
Natural variantiVAR_07373371L → H in GBD1. 1 PublicationCorresponds to variant dbSNP:rs780641693Ensembl.1
Natural variantiVAR_07373473L → V in PFIC3 and GBD1. 2 PublicationsCorresponds to variant dbSNP:rs8187788Ensembl.1
Natural variantiVAR_07373578F → C in GBD1. 1 Publication1
Natural variantiVAR_07373699S → F in GBD1. 1 Publication1
Natural variantiVAR_073737124G → S in GBD1. 1 Publication1
Natural variantiVAR_073739154F → S in GBD1. 1 Publication1
Natural variantiVAR_043082165F → I in GBD1. 2 Publications1
Natural variantiVAR_073742286A → V in PFIC3 and GBD1; does not alter plasma membrane location; inhibits efflux activity for PC. 4 PublicationsCorresponds to variant dbSNP:rs765478923Ensembl.1
Natural variantiVAR_043083301M → T in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs72552779Ensembl.1
Natural variantiVAR_023502320S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 PublicationsCorresponds to variant dbSNP:rs72552778Ensembl.1
Natural variantiVAR_073746406R → G in GBD1. 1 Publication1
Natural variantiVAR_073752510N → S in GBD1. 1 PublicationCorresponds to variant dbSNP:rs375315619Ensembl.1
Natural variantiVAR_073753511A → T in PFIC3 and GBD1. 2 Publications1
Natural variantiVAR_073754513E → K in GBD1. 1 Publication1
Natural variantiVAR_043090528E → D in GBD1; unknown pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs8187797Ensembl.1
Natural variantiVAR_043092541I → F in PFIC3 and GBD1. 2 PublicationsCorresponds to variant dbSNP:rs66904256Ensembl.1
Natural variantiVAR_073755545R → H in GBD1. 1 Publication1
Natural variantiVAR_073756549R → H in GBD1. 1 PublicationCorresponds to variant dbSNP:rs761238221Ensembl.1
Natural variantiVAR_073758589H → T in GBD1; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_043096591L → Q in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs72552776Ensembl.1
Natural variantiVAR_073760593T → M in GBD1. 1 PublicationCorresponds to variant dbSNP:rs571555115Ensembl.1
Natural variantiVAR_073762647E → K in GBD1. 1 Publication1
Natural variantiVAR_073766726P → L in GBD1. 1 PublicationCorresponds to variant dbSNP:rs141677867Ensembl.1
Natural variantiVAR_073768729S → L in GBD1. 1 Publication1
Natural variantiVAR_073773975L → V in GBD1. 1 PublicationCorresponds to variant dbSNP:rs759787957Ensembl.1
Natural variantiVAR_0737751084R → W in GBD1. 1 Publication1
Natural variantiVAR_0431051161Missing in GBD1. 1
Natural variantiVAR_0235041168P → S in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs121918442Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi34T → D: Does not inhibit efflux activity for PC. 1 Publication1
Mutagenesisi44T → A: Reduces efflux activity for PC. Does not alter apical membrane location. 1 Publication1
Mutagenesisi49S → A: Reduces efflux activity for PC. Does not alter apical membrane location. 1 Publication1
Mutagenesisi435K → M: Inhibits efflux activity for PC and cholesterol, but does not alter glycosylation and surface expression in the presence of taurocholate. 1 Publication1
Mutagenesisi953A → D: Accumulates predominantly in intracellular compartments with only a small fraction at the plasma membrane and inhibits partially the efflux activity for PC. 1 Publication1
Mutagenesisi1075K → M: Inhibits efflux activity for PC and cholesterol, but does not alter glycosylation and surface expression in the presence of taurocholate. 1 Publication1

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNETi5244.
MalaCardsiABCB4.
MIMi600803. phenotype.
602347. phenotype.
614972. phenotype.
OpenTargetsiENSG00000005471.
Orphaneti69665. Intrahepatic cholestasis of pregnancy.
69663. Low phospholipid associated cholelithiasis.
79305. Progressive familial intrahepatic cholestasis type 3.
PharmGKBiPA268.

Chemistry databases

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

Polymorphism and mutation databases

BioMutaiABCB4.
DMDMi126302568.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933331 – 1286Phosphatidylcholine translocator ABCB4Add BLAST1286

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei27PhosphoserineBy similarity1
Modified residuei34Phosphothreonine1 Publication1
Glycosylationi91N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei660PhosphoserineBy similarity1

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

MaxQBiP21439.
PaxDbiP21439.
PeptideAtlasiP21439.
PRIDEiP21439.

PTM databases

iPTMnetiP21439.
PhosphoSitePlusiP21439.

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

BgeeiENSG00000005471.
CleanExiHS_ABCB4.
ExpressionAtlasiP21439. baseline and differential.
GenevisibleiP21439. HS.

Organism-specific databases

HPAiHPA049395.
HPA053288.

Interactioni

Subunit structurei

May interact with RACK1 (PubMed:19674157). Interacts with HAX1 (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi111263. 2 interactors.
IntActiP21439. 3 interactors.
STRINGi9606.ENSP00000265723.

Structurei

3D structure databases

ProteinModelPortaliP21439.
SMRiP21439.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 359ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST303
Domaini394 – 630ABC transporter 1PROSITE-ProRule annotationAdd BLAST237
Domaini711 – 999ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST289
Domaini1034 – 1279ABC transporter 2PROSITE-ProRule annotationAdd BLAST246

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni625 – 647Interaction with HAX1By similarityAdd BLAST23

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0055. Eukaryota.
COG1132. LUCA.
GeneTreeiENSGT00530000062896.
HOVERGENiHBG080809.
InParanoidiP21439.
KOiK05659.
OMAiGSAKTME.
OrthoDBiEOG091G0HVA.
PhylomeDBiP21439.
TreeFamiTF105193.

Family and domain databases

InterProiView protein in InterPro
IPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
PfamiView protein in Pfam
PF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
SMARTiView protein in SMART
SM00382. AAA. 2 hits.
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
PROSITEiView protein in PROSITE
PS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.

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 differs from that shown. Probable cloning artifact.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07372834T → M in GBD1; reduces efflux activity for PC in a phosphorylation-dependent manner. 2 PublicationsCorresponds to variant dbSNP:rs142794414Ensembl.1
Natural variantiVAR_07372947R → G in GBD1; partly retained intracellularly; reduces efflux activity for PC in a phosphorylation-dependent manner. 3 Publications1
Natural variantiVAR_07373047R → Q Found in patients with cholangitis; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372685632Ensembl.1
Natural variantiVAR_07373168G → R in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication1
Natural variantiVAR_07373270G → R in PFIC3. 1 Publication1
Natural variantiVAR_07373371L → H in GBD1. 1 PublicationCorresponds to variant dbSNP:rs780641693Ensembl.1
Natural variantiVAR_07373473L → V in PFIC3 and GBD1. 2 PublicationsCorresponds to variant dbSNP:rs8187788Ensembl.1
Natural variantiVAR_07373578F → C in GBD1. 1 Publication1
Natural variantiVAR_04307887D → E1 Publication1
Natural variantiVAR_04307995P → S1 PublicationCorresponds to variant dbSNP:rs377268767Ensembl.1
Natural variantiVAR_07373699S → F in GBD1. 1 Publication1
Natural variantiVAR_073737124G → S in GBD1. 1 Publication1
Natural variantiVAR_073738126G → E in PFIC3. 1 Publication1
Natural variantiVAR_043080138W → R in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552781Ensembl.1
Natural variantiVAR_043081150R → K in ICP3. 1 PublicationCorresponds to variant dbSNP:rs757693457Ensembl.1
Natural variantiVAR_073739154F → S in GBD1. 1 Publication1
Natural variantiVAR_043082165F → I in GBD1. 2 Publications1
Natural variantiVAR_023501175T → A Found in patients with gallbladder and cholestasis; unknown pathological significance. 8 PublicationsCorresponds to variant dbSNP:rs58238559Ensembl.1
Natural variantiVAR_073740201T → M in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 PublicationCorresponds to variant dbSNP:rs753318087Ensembl.1
Natural variantiVAR_020223238L → V1 PublicationCorresponds to variant dbSNP:rs45596335Ensembl.1
Natural variantiVAR_073741250A → P in PFIC3. 1 Publication1
Natural variantiVAR_030763263I → V1 PublicationCorresponds to variant dbSNP:rs45547936Ensembl.1
Natural variantiVAR_073742286A → V in PFIC3 and GBD1; does not alter plasma membrane location; inhibits efflux activity for PC. 4 PublicationsCorresponds to variant dbSNP:rs765478923Ensembl.1
Natural variantiVAR_043083301M → T in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs72552779Ensembl.1
Natural variantiVAR_023502320S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 PublicationsCorresponds to variant dbSNP:rs72552778Ensembl.1
Natural variantiVAR_043084346S → I in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs67876345Ensembl.1
Natural variantiVAR_073743357F → L in PFIC3. 1 Publication1
Natural variantiVAR_073744364A → V in PFIC3. 1 Publication1
Natural variantiVAR_043085367I → V1 Publication1
Natural variantiVAR_043086395E → G in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552777Ensembl.1
Natural variantiVAR_073745403Y → H in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 3 PublicationsCorresponds to variant dbSNP:rs121918443Ensembl.1
Natural variantiVAR_073746406R → G in GBD1. 1 Publication1
Natural variantiVAR_073747406R → Q Found in patients with cholangitis; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763807769Ensembl.1
Natural variantiVAR_043087424T → A in PFIC3. 1 Publication1
Natural variantiVAR_043088425V → M in PFIC3. 1 Publication1
Natural variantiVAR_043089450E → G1 Publication1
Natural variantiVAR_073748459D → H in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication1
Natural variantiVAR_073749475V → A in PFIC3. 1 Publication1
Natural variantiVAR_073750479P → L in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 Publication1
Natural variantiVAR_073751481L → R in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 1 Publication1
Natural variantiVAR_073752510N → S in GBD1. 1 PublicationCorresponds to variant dbSNP:rs375315619Ensembl.1
Natural variantiVAR_073753511A → T in PFIC3 and GBD1. 2 Publications1
Natural variantiVAR_073754513E → K in GBD1. 1 Publication1
Natural variantiVAR_043090528E → D in GBD1; unknown pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs8187797Ensembl.1
Natural variantiVAR_043091535G → D in PFIC3. 1 Publication1
Natural variantiVAR_043092541I → F in PFIC3 and GBD1. 2 PublicationsCorresponds to variant dbSNP:rs66904256Ensembl.1
Natural variantiVAR_073755545R → H in GBD1. 1 Publication1
Natural variantiVAR_023503546A → D in ICP3; disruption of protein trafficking with subsequent lack of functional protein at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs121918441Ensembl.1
Natural variantiVAR_073756549R → H in GBD1. 1 PublicationCorresponds to variant dbSNP:rs761238221Ensembl.1
Natural variantiVAR_043093556L → R in PFIC3. 1 Publication1
Natural variantiVAR_073757558E → K in PFIC3. 1 Publication1
Natural variantiVAR_043094564D → G in PFIC3. 1 Publication1
Natural variantiVAR_073758589H → T in GBD1; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_043095590R → Q Found in patients with gallbladder and cholestasis; unknown pathological significance. 7 PublicationsCorresponds to variant dbSNP:rs45575636Ensembl.1
Natural variantiVAR_043096591L → Q in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs72552776Ensembl.1
Natural variantiVAR_073759593T → A in PFIC3. 1 Publication1
Natural variantiVAR_073760593T → M in GBD1. 1 PublicationCorresponds to variant dbSNP:rs571555115Ensembl.1
Natural variantiVAR_073761630M → V in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs372476723Ensembl.1
Natural variantiVAR_073762647E → K in GBD1. 1 Publication1
Natural variantiVAR_030765651T → N1 PublicationCorresponds to variant dbSNP:rs45476795Ensembl.1
Natural variantiVAR_020225652R → G Found in patients with gallbladder and cholestasis; unknown pathological significance. 9 PublicationsCorresponds to variant dbSNP:rs2230028Ensembl.1
Natural variantiVAR_073763701L → P in PFIC3. 1 Publication1
Natural variantiVAR_043097711F → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552773Ensembl.1
Natural variantiVAR_073764715T → I in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs138773456Ensembl.1
Natural variantiVAR_073765723G → E in PFIC3. 1 Publication1
Natural variantiVAR_073766726P → L in GBD1. 1 PublicationCorresponds to variant dbSNP:rs141677867Ensembl.1
Natural variantiVAR_073767726P → T in PFIC3. 1 Publication1
Natural variantiVAR_073768729S → L in GBD1. 1 Publication1
Natural variantiVAR_073769737A → V in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs147134978Ensembl.1
Natural variantiVAR_043098742G → S1 Publication1
Natural variantiVAR_043099762G → E in ICP3. 1 Publication1
Natural variantiVAR_043100764I → L in a heterozygous patient with risperidone-induced cholestasis. 1 Publication1
Natural variantiVAR_043101775T → M Found in patients with cholangitis; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs148052192Ensembl.1
Natural variantiVAR_024359788R → Q Found in patients with gallbladder and cholestasis; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs8187801Ensembl.1
Natural variantiVAR_073770840A → D in PFIC3. 1 Publication1
Natural variantiVAR_043102934A → T Found in patients with gallbladder and cholestasis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61730509Ensembl.1
Natural variantiVAR_073771