ABCB11

Functionⁱ

Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes.

Kineticsⁱ

K_M=
30.4 µM for taurocholate
1 Publication
Manual assertion based on experiment inⁱ
- Ref.14
  "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-284; ALA-444; TYR-676; VAL-677; HIS-698 AND ARG-855, BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANTS ALA-444; TYR-676; VAL-677 AND ARG-855.

V_max=
232 pmol/min/mg enzyme for taurocholate transport
1 Publication
Manual assertion based on experiment inⁱ
- Ref.14
  "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-284; ALA-444; TYR-676; VAL-677; HIS-698 AND ARG-855, BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANTS ALA-444; TYR-676; VAL-677 AND ARG-855.

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Nucleotide bindingⁱ	455 – 462	ATP 1PROSITE-ProRule annotation		8
Nucleotide bindingⁱ	1113 – 1120	ATP 2PROSITE-ProRule annotation		8

GO - Molecular functionⁱ

ATP binding
Source: ProtInc
Traceable author statementⁱ
- 9806540
bile acid-exporting ATPase activity Source: Reactome
canalicular bile acid transmembrane transporter activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
sodium-exporting ATPase activity, phosphorylative mechanism
Source: ProtInc
Traceable author statementⁱ
- 9806540
transporter activity
Source: ProtInc
Traceable author statementⁱ
- 9806540

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

bile acid and bile salt transport Source: Reactome
bile acid biosynthetic process Source: Reactome
canalicular bile acid transport
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Transport
Ligand	ATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-159418 Recycling of bile acids and salts R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-5678520 Defective ABCB11 causes progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2

Reactomeⁱ

R-HSA-159418 Recycling of bile acids and salts
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-5678520 Defective ABCB11 causes progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2

Protein family/group databases

TCDBⁱ	3.A.1.201.2 the atp-binding cassette (abc) superfamily

TCDBⁱ

3.A.1.201.2 the atp-binding cassette (abc) superfamily

Chemistry databases

SwissLipidsⁱ	SLP:000001597

SwissLipidsⁱ

SLP:000001597

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Bile salt export pump Alternative name(s): ATP-binding cassette sub-family B member 11
Gene namesⁱ	Name:ABCB11 Synonyms:BSEP
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000073734.8
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:42 ABCB11
MIMⁱ	603201 gene
neXtProtⁱ	NX_O95342

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 62	CytoplasmicSequence analysisAdd BLAST	62
Transmembraneⁱ	63 – 83	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	84 – 147	ExtracellularSequence analysisAdd BLAST	64
Transmembraneⁱ	148 – 168	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	169 – 215	CytoplasmicSequence analysisAdd BLAST	47
Transmembraneⁱ	216 – 236	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	237 – 240	ExtracellularSequence analysis	4
Transmembraneⁱ	241 – 261	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	262 – 319	CytoplasmicSequence analysisAdd BLAST	58
Transmembraneⁱ	320 – 340	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	341 – 353	ExtracellularSequence analysisAdd BLAST	13
Transmembraneⁱ	354 – 374	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	375 – 755	CytoplasmicSequence analysisAdd BLAST	381
Transmembraneⁱ	756 – 776	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	777 – 794	ExtracellularSequence analysisAdd BLAST	18
Transmembraneⁱ	795 – 815	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	816 – 869	CytoplasmicSequence analysisAdd BLAST	54
Transmembraneⁱ	870 – 890	HelicalPROSITE-ProRule annotationAdd BLAST	21
Transmembraneⁱ	891 – 911	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	912 – 979	CytoplasmicSequence analysisAdd BLAST	68
Transmembraneⁱ	980 – 1000	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	1001 – 1011	ExtracellularSequence analysisAdd BLAST	11
Transmembraneⁱ	1012 – 1032	HelicalPROSITE-ProRule annotationAdd BLAST	21
Topological domainⁱ	1033 – 1321	CytoplasmicSequence analysisAdd BLAST	289

Keywords - Cellular componentⁱ

Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Cholestasis, progressive familial intrahepatic, 2 (PFIC2)4 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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_030388	238	G → V in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551306Ensembl.	1
Natural variantⁱVAR_013332	284	V → L in PFIC2. 1 Publication	1
Natural variantⁱVAR_030390	336	C → S in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551305Ensembl.	1
Natural variantⁱVAR_073967	337	Y → H in PFIC2; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_013334	461	K → E in PFIC2. 1 Publication	1
Natural variantⁱVAR_073968	472	Y → C in PFIC2; compound heterozygous with V-1131. 1 PublicationCorresponds to variant dbSNP:rs369860506Ensembl.	1
Natural variantⁱVAR_013335	482	D → G in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549402EnsemblClinVar.	1
Natural variantⁱVAR_073969	696	R → W in PFIC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376216286Ensembl.	1
Natural variantⁱVAR_073970	931	Q → P in PFIC2; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_013336	982	G → R in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549399Ensembl.	1
Natural variantⁱVAR_013337	1004	G → D in PFIC2. 1 Publication	1
Natural variantⁱVAR_073971	1131	D → V in PFIC2; compound heterozygous with C-472. 1 Publication	1
Natural variantⁱVAR_013338	1153	R → C in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549395EnsemblClinVar.	1
Natural variantⁱVAR_073972	1198	H → R in PFIC2; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_013339	1268	R → Q in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549394Ensembl.	1

Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_030386	186	E → G in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72551307Ensembl.	1
Natural variantⁱVAR_030391	432	R → T in BRIC2; reduced transport capacity for taurocholate. 1 PublicationCorresponds to variant dbSNP:rs121908935EnsemblClinVar.	1
Natural variantⁱVAR_030392	570	A → T in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs886043807EnsemblClinVar.	1
Natural variantⁱVAR_030394	923	T → P in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs777469571Ensembl.	1
Natural variantⁱVAR_030395	926	A → P in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72549400Ensembl.	1
Natural variantⁱVAR_030396	1050	R → C in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72549398EnsemblClinVar.	1
Natural variantⁱVAR_030397	1128	R → H in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs756220860EnsemblClinVar.	1

Keywords - Diseaseⁱ

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNET More...DisGeNETⁱ	8647
GeneReviewsⁱ	ABCB11
MalaCards human disease database More...MalaCardsⁱ	ABCB11
MIMⁱ	601847 phenotype 605479 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000073734
Orphanetⁱ	99961 Benign recurrent intrahepatic cholestasis type 2 69665 Intrahepatic cholestasis of pregnancy 79304 Progressive familial intrahepatic cholestasis type 2
PharmGKBⁱ	PA374

Chemistry databases

ChEMBLⁱ	CHEMBL6020
Drug and drug target database More...DrugBankⁱ	DB00171 Adenosine triphosphate DB00559 Bosentan DB00477 Chlorpromazine DB02659 Cholic Acid DB00501 Cimetidine DB00845 Clofazimine DB00091 Cyclosporine DB00694 Daunorubicin DB03619 Deoxycholic Acid DB01234 Dexamethasone DB00390 Digoxin DB00997 Doxorubicin DB00977 Ethinyl Estradiol DB00693 Fluorescein DB02703 Fusidic Acid DB01016 Glyburide DB02123 Glycochenodeoxycholic Acid DB01026 Ketoconazole DB01051 Novobiocin DB01229 Paclitaxel DB01174 Phenobarbital DB08901 Ponatinib DB00175 Pravastatin DB00396 Progesterone DB00908 Quinidine DB00206 Reserpine DB01045 Rifampicin DB01098 Rosuvastatin DB00675 Tamoxifen DB04348 Taurocholic Acid DB00197 Troglitazone DB01586 Ursodeoxycholic acid DB00661 Verapamil DB00570 Vinblastine DB00541 Vincristine
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	778

Polymorphism and mutation databases

BioMutaⁱ	ABCB11

BioMutaⁱ

ABCB11

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000093296	1 – 1321	Bile salt export pumpAdd BLAST		1321

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	109	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	116	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	122	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	125	N-linked (GlcNAc...) asparagine1 Publication	1
Modified residueⁱ	586	PhosphothreonineCombined sources	1
Modified residueⁱ	587	PhosphoserineCombined sources	1
Modified residueⁱ	690	PhosphoserineBy similarity	1
Modified residueⁱ	701	PhosphoserineBy similarity	1
Modified residueⁱ	704	PhosphoserineCombined sources	1
Modified residueⁱ	1214	PhosphoserineCombined sources	1
Modified residueⁱ	1321	PhosphoserineBy similarity	1

Keywords - PTMⁱ

Glycoprotein, Phosphoprotein

Proteomic databases

EPDⁱ	O95342
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O95342
PaxDbⁱ	O95342
PeptideAtlas More...PeptideAtlasⁱ	O95342
PRIDEⁱ	O95342
ProteomicsDBⁱ	50810

PTM databases

iPTMnetⁱ	O95342
PhosphoSitePlusⁱ	O95342

Expressionⁱ

Tissue specificityⁱ

Expressed predominantly, if not exclusively in the liver, where it was further localized to the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by in situ.

Gene expression databases

Bgeeⁱ	ENSG00000073734 Expressed in 39 organ(s), highest expression level in liver
CleanExⁱ	HS_ABCB11
ExpressionAtlasⁱ	O95342 baseline and differential
Genevisibleⁱ	O95342 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA019035

HPAⁱ

HPA019035

Interactionⁱ

Subunit structureⁱ

Interacts with HAX1.By similarity

Protein-protein interaction databases

BioGridⁱ	114199, 5 interactors
IntActⁱ	O95342, 3 interactors
STRINGⁱ	9606.ENSP00000263817

Chemistry databases

BindingDBⁱ

O95342

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O95342
SMRⁱ	O95342
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	62 – 385	ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST	324
Domainⁱ	420 – 656	ABC transporter 1PROSITE-ProRule annotationAdd BLAST	237
Domainⁱ	755 – 1043	ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST	289
Domainⁱ	1078 – 1316	ABC transporter 2PROSITE-ProRule annotationAdd BLAST	239

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	651 – 672	Interaction with HAX1By similarityAdd BLAST		22

Domainⁱ

Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.

Sequence similaritiesⁱ

Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. [View classification]Curated

Keywords - Domainⁱ

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG0055 Eukaryota COG1132 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000062896
HOVERGENⁱ	HBG080809
InParanoidⁱ	O95342
KEGG Orthology (KO) More...KOⁱ	K05664
OMAⁱ	FIQRMTT
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0HVA
PhylomeDBⁱ	O95342
TreeFamⁱ	TF105193

Family and domain databases

Gene3Dⁱ	1.20.1560.10, 2 hits
InterProⁱ	View protein in InterPro IPR003593 AAA+_ATPase IPR011527 ABC1_TM_dom IPR036640 ABC1_TM_sf IPR003439 ABC_transporter-like IPR017871 ABC_transporter_CS IPR030278 BSEP IPR027417 P-loop_NTPase IPR039421 Type_I_exporter
PANTHERⁱ	PTHR24221 PTHR24221, 1 hit PTHR24221:SF165 PTHR24221:SF165, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00664 ABC_membrane, 2 hits PF00005 ABC_tran, 2 hits
SMARTⁱ	View protein in SMART SM00382 AAA, 2 hits
SUPFAMⁱ	SSF52540 SSF52540, 2 hits SSF90123 SSF90123, 2 hits
PROSITEⁱ	View protein in PROSITE PS50929 ABC_TM1F, 2 hits PS00211 ABC_TRANSPORTER_1, 1 hit PS50893 ABC_TRANSPORTER_2, 2 hits

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show all Align All

O95342-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MSDSVILRSI KKFGEENDGF ESDKSYNNDK KSRLQDEKKG DGVRVGFFQL 
        60         70         80         90        100
FRFSSSTDIW LMFVGSLCAF LHGIAQPGVL LIFGTMTDVF IDYDVELQEL 
       110        120        130        140        150
QIPGKACVNN TIVWTNSSLN QNMTNGTRCG LLNIESEMIK FASYYAGIAV 
       160        170        180        190        200
AVLITGYIQI CFWVIAAARQ IQKMRKFYFR RIMRMEIGWF DCNSVGELNT 
       210        220        230        240        250
RFSDDINKIN DAIADQMALF IQRMTSTICG FLLGFFRGWK LTLVIISVSP 
       260        270        280        290        300
LIGIGAATIG LSVSKFTDYE LKAYAKAGVV ADEVISSMRT VAAFGGEKRE 
       310        320        330        340        350
VERYEKNLVF AQRWGIRKGI VMGFFTGFVW CLIFLCYALA FWYGSTLVLD 
       360        370        380        390        400
EGEYTPGTLV QIFLSVIVGA LNLGNASPCL EAFATGRAAA TSIFETIDRK 
       410        420        430        440        450
PIIDCMSEDG YKLDRIKGEI EFHNVTFHYP SRPEVKILND LNMVIKPGEM 
       460        470        480        490        500
TALVGPSGAG KSTALQLIQR FYDPCEGMVT VDGHDIRSLN IQWLRDQIGI 
       510        520        530        540        550
VEQEPVLFST TIAENIRYGR EDATMEDIVQ AAKEANAYNF IMDLPQQFDT 
       560        570        580        590        600
LVGEGGGQMS GGQKQRVAIA RALIRNPKIL LLDMATSALD NESEAMVQEV 
       610        620        630        640        650
LSKIQHGHTI ISVAHRLSTV RAADTIIGFE HGTAVERGTH EELLERKGVY 
       660        670        680        690        700
FTLVTLQSQG NQALNEEDIK DATEDDMLAR TFSRGSYQDS LRASIRQRSK 
       710        720        730        740        750
SQLSYLVHEP PLAVVDHKST YEEDRKDKDI PVQEEVEPAP VRRILKFSAP 
       760        770        780        790        800
EWPYMLVGSV GAAVNGTVTP LYAFLFSQIL GTFSIPDKEE QRSQINGVCL 
       810        820        830        840        850
LFVAMGCVSL FTQFLQGYAF AKSGELLTKR LRKFGFRAML GQDIAWFDDL 
       860        870        880        890        900
RNSPGALTTR LATDASQVQG AAGSQIGMIV NSFTNVTVAM IIAFSFSWKL 
       910        920        930        940        950
SLVILCFFPF LALSGATQTR MLTGFASRDK QALEMVGQIT NEALSNIRTV 
       960        970        980        990       1000
AGIGKERRFI EALETELEKP FKTAIQKANI YGFCFAFAQC IMFIANSASY 
      1010       1020       1030       1040       1050
RYGGYLISNE GLHFSYVFRV ISAVVLSATA LGRAFSYTPS YAKAKISAAR 
      1060       1070       1080       1090       1100
FFQLLDRQPP ISVYNTAGEK WDNFQGKIDF VDCKFTYPSR PDSQVLNGLS 
      1110       1120       1130       1140       1150
VSISPGQTLA FVGSSGCGKS TSIQLLERFY DPDQGKVMID GHDSKKVNVQ 
      1160       1170       1180       1190       1200
FLRSNIGIVS QEPVLFACSI MDNIKYGDNT KEIPMERVIA AAKQAQLHDF 
      1210       1220       1230       1240       1250
VMSLPEKYET NVGSQGSQLS RGEKQRIAIA RAIVRDPKIL LLDEATSALD 
      1260       1270       1280       1290       1300
TESEKTVQVA LDKAREGRTC IVIAHRLSTI QNADIIAVMA QGVVIEKGTH 
      1310       1320 
EELMAQKGAY YKLVTTGSPI S

Length:1,321

Mass (Da):146,407

Last modified:November 3, 2009 - v2

Checksum:ⁱ61EE2173E2351D80

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

Q53S60	Q53S60_HUMAN	Bile salt export pump Bile salt export pump	ABCB11	451	Annotation score:
H7C486	H7C486_HUMAN	Bile salt export pump Bile salt export pump	ABCB11	72	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	339	L → V in AAC77455 (PubMed:9806540).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_055472	56	S → L. Corresponds to variant dbSNP:rs11568361EnsemblClinVar.	1
Natural variantⁱVAR_030386	186	E → G in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72551307Ensembl.	1
Natural variantⁱVAR_030387	206	I → V1 PublicationCorresponds to variant dbSNP:rs11568357EnsemblClinVar.	1
Natural variantⁱVAR_030388	238	G → V in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551306Ensembl.	1
Natural variantⁱVAR_035349	284	V → A2 PublicationsCorresponds to variant dbSNP:rs200739891EnsemblClinVar.	1
Natural variantⁱVAR_013332	284	V → L in PFIC2. 1 Publication	1
Natural variantⁱVAR_010271	297	E → G in PFIC2 and BRIC2; reduced transport capacity for taurocholate. 3 PublicationsCorresponds to variant dbSNP:rs11568372EnsemblClinVar.	1
Natural variantⁱVAR_030389	299	R → K1 PublicationCorresponds to variant dbSNP:rs2287617Ensembl.	1
Natural variantⁱVAR_030390	336	C → S in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551305Ensembl.	1
Natural variantⁱVAR_073967	337	Y → H in PFIC2; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_043074	415	R → Q1 PublicationCorresponds to variant dbSNP:rs371656014Ensembl.	1
Natural variantⁱVAR_030391	432	R → T in BRIC2; reduced transport capacity for taurocholate. 1 PublicationCorresponds to variant dbSNP:rs121908935EnsemblClinVar.	1
Natural variantⁱVAR_013333	444	V → A Common polymorphism; more frequent in patients with drug-induced cholestasis than healthy controls; associated with lower hepatic expression; does not affect transport capacity for taurocholate. 7 PublicationsCorresponds to variant dbSNP:rs2287622EnsemblClinVar.	1
Natural variantⁱVAR_059106	444	V → D. Corresponds to variant dbSNP:rs2287622EnsemblClinVar.	1
Natural variantⁱVAR_059107	444	V → G. Corresponds to variant dbSNP:rs2287622EnsemblClinVar.	1
Natural variantⁱVAR_013334	461	K → E in PFIC2. 1 Publication	1
Natural variantⁱVAR_073968	472	Y → C in PFIC2; compound heterozygous with V-1131. 1 PublicationCorresponds to variant dbSNP:rs369860506Ensembl.	1
Natural variantⁱVAR_013335	482	D → G in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549402EnsemblClinVar.	1
Natural variantⁱVAR_030392	570	A → T in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs886043807EnsemblClinVar.	1
Natural variantⁱVAR_043075	591	N → S in a patient with intrahepatic cholestasis of pregnancy. 1 PublicationCorresponds to variant dbSNP:rs11568367EnsemblClinVar.	1
Natural variantⁱVAR_035350	616	R → G1 Publication	1
Natural variantⁱVAR_035351	619	T → A1 PublicationCorresponds to variant dbSNP:rs912519986Ensembl.	1
Natural variantⁱVAR_043076	676	D → Y in fluvastatin-induced cholestasis; does not affect transport capacity for taurocholate. 1 Publication	1
Natural variantⁱVAR_030393	677	M → V Does not affect transport capacity for taurocholate. 4 PublicationsCorresponds to variant dbSNP:rs11568364EnsemblClinVar.	1
Natural variantⁱVAR_073969	696	R → W in PFIC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376216286Ensembl.	1
Natural variantⁱVAR_035352	698	R → H2 PublicationsCorresponds to variant dbSNP:rs138642043EnsemblClinVar.	1
Natural variantⁱVAR_043077	855	G → R in ethinylestradiol/gestodene-induced cholestasis; loss of transport capacity for taurocholate. 1 Publication	1
Natural variantⁱVAR_035353	865	A → V Polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs118109635EnsemblClinVar.	1
Natural variantⁱVAR_030394	923	T → P in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs777469571Ensembl.	1
Natural variantⁱVAR_030395	926	A → P in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72549400Ensembl.	1
Natural variantⁱVAR_073970	931	Q → P in PFIC2; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_035354	958	R → Q1 PublicationCorresponds to variant dbSNP:rs761363245Ensembl.	1
Natural variantⁱVAR_013336	982	G → R in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549399Ensembl.	1
Natural variantⁱVAR_013337	1004	G → D in PFIC2. 1 Publication	1
Natural variantⁱVAR_030396	1050	R → C in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72549398EnsemblClinVar.	1
Natural variantⁱVAR_030397	1128	R → H in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs756220860EnsemblClinVar.	1
Natural variantⁱVAR_073971	1131	D → V in PFIC2; compound heterozygous with C-472. 1 Publication	1
Natural variantⁱVAR_013338	1153	R → C in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549395EnsemblClinVar.	1
Natural variantⁱVAR_030398	1186	E → K. Corresponds to variant dbSNP:rs1521808EnsemblClinVar.	1
Natural variantⁱVAR_073972	1198	H → R in PFIC2; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_013339	1268	R → Q in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549394Ensembl.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF091582 mRNA Translation: AAC77455.1 AF136523 mRNA Translation: AAD28285.1 AC008177 Genomic DNA Translation: AAY24305.1 AC093723 Genomic DNA No translation available. AC069137 Genomic DNA No translation available.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS46444.1
NCBI Reference Sequences More...RefSeqⁱ	NP_003733.2, NM_003742.2
UniGeneⁱ	Hs.158316 Hs.658439

Genome annotation databases

Ensemblⁱ	ENST00000263817; ENSP00000263817; ENSG00000073734
GeneIDⁱ	8647
KEGGⁱ	hsa:8647
UCSC genome browser More...UCSCⁱ	uc002ueo.2 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O95342	bile salt export pump		TARSY		1369	UniRef90_O95342
Sister p-glycoprotein (Fragment)		HUMAN		63
Uncharacterized protein		MACMU		1323
Uncharacterized protein		CHLSB		1323
ATP-binding cassette protein B11		MACFA		1323
+42

Protein	Similar proteins		Species	Score	Length	Source
O95342	Bile salt export pump		MOUSE		1321	UniRef50_O95342
Bile salt export pump		RAT		1321
Bile salt export pump		RABIT		1321
bile salt export pump		TARSY		1369
Sister p-glycoprotein (Fragment)		HUMAN		63
+631

Cross-referencesⁱ

Web resourcesⁱ

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF091582 mRNA Translation: AAC77455.1 AF136523 mRNA Translation: AAD28285.1 AC008177 Genomic DNA Translation: AAY24305.1 AC093723 Genomic DNA No translation available. AC069137 Genomic DNA No translation available.
CCDSⁱ	CCDS46444.1
RefSeqⁱ	NP_003733.2, NM_003742.2
UniGeneⁱ	Hs.158316 Hs.658439

3D structure databases

ProteinModelPortalⁱ	O95342
SMRⁱ	O95342
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	114199, 5 interactors
IntActⁱ	O95342, 3 interactors
STRINGⁱ	9606.ENSP00000263817

Chemistry databases

BindingDBⁱ	O95342
ChEMBLⁱ	CHEMBL6020
DrugBankⁱ	DB00171 Adenosine triphosphate DB00559 Bosentan DB00477 Chlorpromazine DB02659 Cholic Acid DB00501 Cimetidine DB00845 Clofazimine DB00091 Cyclosporine DB00694 Daunorubicin DB03619 Deoxycholic Acid DB01234 Dexamethasone DB00390 Digoxin DB00997 Doxorubicin DB00977 Ethinyl Estradiol DB00693 Fluorescein DB02703 Fusidic Acid DB01016 Glyburide DB02123 Glycochenodeoxycholic Acid DB01026 Ketoconazole DB01051 Novobiocin DB01229 Paclitaxel DB01174 Phenobarbital DB08901 Ponatinib DB00175 Pravastatin DB00396 Progesterone DB00908 Quinidine DB00206 Reserpine DB01045 Rifampicin DB01098 Rosuvastatin DB00675 Tamoxifen DB04348 Taurocholic Acid DB00197 Troglitazone DB01586 Ursodeoxycholic acid DB00661 Verapamil DB00570 Vinblastine DB00541 Vincristine
GuidetoPHARMACOLOGYⁱ	778
SwissLipidsⁱ	SLP:000001597

Protein family/group databases

TCDBⁱ	3.A.1.201.2 the atp-binding cassette (abc) superfamily

TCDBⁱ

3.A.1.201.2 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetⁱ	O95342
PhosphoSitePlusⁱ	O95342

Polymorphism and mutation databases

BioMutaⁱ	ABCB11

BioMutaⁱ

ABCB11

Proteomic databases

EPDⁱ	O95342
MaxQBⁱ	O95342
PaxDbⁱ	O95342
PeptideAtlasⁱ	O95342
PRIDEⁱ	O95342
ProteomicsDBⁱ	50810

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000263817; ENSP00000263817; ENSG00000073734
GeneIDⁱ	8647
KEGGⁱ	hsa:8647
UCSCⁱ	uc002ueo.2 human

Organism-specific databases

CTDⁱ	8647
DisGeNETⁱ	8647
EuPathDBⁱ	HostDB:ENSG00000073734.8
GeneCardsⁱ	ABCB11
GeneReviewsⁱ	ABCB11
H-InvDBⁱ	HIX0029772
HGNCⁱ	HGNC:42 ABCB11
HPAⁱ	HPA019035
MalaCardsⁱ	ABCB11
MIMⁱ	601847 phenotype 603201 gene 605479 phenotype
neXtProtⁱ	NX_O95342
OpenTargetsⁱ	ENSG00000073734
Orphanetⁱ	99961 Benign recurrent intrahepatic cholestasis type 2 69665 Intrahepatic cholestasis of pregnancy 79304 Progressive familial intrahepatic cholestasis type 2
PharmGKBⁱ	PA374
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0055 Eukaryota COG1132 LUCA
GeneTreeⁱ	ENSGT00530000062896
HOVERGENⁱ	HBG080809
InParanoidⁱ	O95342
KOⁱ	K05664
OMAⁱ	FIQRMTT
OrthoDBⁱ	EOG091G0HVA
PhylomeDBⁱ	O95342
TreeFamⁱ	TF105193

Enzyme and pathway databases

Reactomeⁱ	R-HSA-159418 Recycling of bile acids and salts R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-5678520 Defective ABCB11 causes progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2

Reactomeⁱ

R-HSA-159418 Recycling of bile acids and salts
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-5678520 Defective ABCB11 causes progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2

Miscellaneous databases

ChiTaRSⁱ	ABCB11 human
GeneWikiⁱ	ABCB11
GenomeRNAiⁱ	8647
Protein Ontology More...PROⁱ	PR:O95342
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000073734 Expressed in 39 organ(s), highest expression level in liver
CleanExⁱ	HS_ABCB11
ExpressionAtlasⁱ	O95342 baseline and differential
Genevisibleⁱ	O95342 HS

Family and domain databases

Gene3Dⁱ	1.20.1560.10, 2 hits
InterProⁱ	View protein in InterPro IPR003593 AAA+_ATPase IPR011527 ABC1_TM_dom IPR036640 ABC1_TM_sf IPR003439 ABC_transporter-like IPR017871 ABC_transporter_CS IPR030278 BSEP IPR027417 P-loop_NTPase IPR039421 Type_I_exporter
PANTHERⁱ	PTHR24221 PTHR24221, 1 hit PTHR24221:SF165 PTHR24221:SF165, 1 hit
Pfamⁱ	View protein in Pfam PF00664 ABC_membrane, 2 hits PF00005 ABC_tran, 2 hits
SMARTⁱ	View protein in SMART SM00382 AAA, 2 hits
SUPFAMⁱ	SSF52540 SSF52540, 2 hits SSF90123 SSF90123, 2 hits
PROSITEⁱ	View protein in PROSITE PS50929 ABC_TM1F, 2 hits PS00211 ABC_TRANSPORTER_1, 1 hit PS50893 ABC_TRANSPORTER_2, 2 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	ABCBB_HUMAN
Accessionⁱ	O95342Primary (citable) accession number: O95342 Secondary accession number(s): Q53TL2, Q9UNB2
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
	Last sequence update:	November 3, 2009
	Last modified:	November 7, 2018
	This is version 175 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

SIMILARITY comments
Index of protein domains and families
Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniProtKB - O95342 (ABCBB_HUMAN)

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Bile salt export pump

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

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GO - Biological processi

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<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

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Keywords - Cellular componenti

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Keywords - Diseasei

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<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

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Amino acid modifications

Keywords - PTMi

Proteomic databases

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<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

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<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

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Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

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Chemistry databases

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PTM databases

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Proteomic databases

Protocols and materials databases

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Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

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Functionⁱ

Kineticsⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ