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O95342

- ABCBB_HUMAN

UniProt

O95342 - ABCBB_HUMAN

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Protein
Bile salt export pump
Gene
ABCB11, BSEP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Kineticsi

  1. KM=30.4 µM for taurocholate1 Publication

Vmax=232 pmol/min/mg enzyme for taurocholate transport

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi455 – 4628ATP 1 Reviewed prediction
Nucleotide bindingi1113 – 11208ATP 2 Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: ProtInc
  2. ATPase activity, coupled to transmembrane movement of substances Source: RefGenome
  3. bile acid-exporting ATPase activity Source: ProtInc
  4. canalicular bile acid transmembrane transporter activity Source: RefGenome
  5. sodium-exporting ATPase activity, phosphorylative mechanism Source: ProtInc
  6. transporter activity Source: ProtInc

GO - Biological processi

  1. bile acid and bile salt transport Source: Reactome
  2. bile acid biosynthetic process Source: Reactome
  3. bile acid metabolic process Source: Reactome
  4. canalicular bile acid transport Source: RefGenome
  5. small molecule metabolic process Source: Reactome
  6. sodium ion transmembrane transport Source: GOC
  7. transmembrane transport Source: RefGenome
  8. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
REACT_11042. Recycling of bile acids and salts.

Protein family/group databases

TCDBi3.A.1.201.2. the atp-binding cassette (abc) superfamily.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:42. ABCB11.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 6262Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei63 – 8321Helical; Reviewed prediction
Add
BLAST
Topological domaini84 – 14764Extracellular Reviewed prediction
Add
BLAST
Transmembranei148 – 16821Helical; Reviewed prediction
Add
BLAST
Topological domaini169 – 21547Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei216 – 23621Helical; Reviewed prediction
Add
BLAST
Topological domaini237 – 2404Extracellular Reviewed prediction
Transmembranei241 – 26121Helical; Reviewed prediction
Add
BLAST
Topological domaini262 – 31958Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei320 – 34021Helical; Reviewed prediction
Add
BLAST
Topological domaini341 – 35313Extracellular Reviewed prediction
Add
BLAST
Transmembranei354 – 37421Helical; Reviewed prediction
Add
BLAST
Topological domaini375 – 755381Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei756 – 77621Helical; Reviewed prediction
Add
BLAST
Topological domaini777 – 79418Extracellular Reviewed prediction
Add
BLAST
Transmembranei795 – 81521Helical; Reviewed prediction
Add
BLAST
Topological domaini816 – 86954Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei870 – 89021Helical; Reviewed prediction
Add
BLAST
Transmembranei891 – 91121Helical; Reviewed prediction
Add
BLAST
Topological domaini912 – 97968Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei980 – 100021Helical; Reviewed prediction
Add
BLAST
Topological domaini1001 – 101111Extracellular Reviewed prediction
Add
BLAST
Transmembranei1012 – 103221Helical; Reviewed prediction
Add
BLAST
Topological domaini1033 – 1321289Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. apical part of cell Source: Ensembl
  2. extracellular vesicular exosome Source: UniProt
  3. integral component of membrane Source: RefGenome
  4. integral component of plasma membrane Source: ProtInc
  5. intercellular canaliculus Source: Ensembl
  6. membrane Source: ProtInc
  7. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti238 – 2381G → V in PFIC2. 1 Publication
VAR_030388
Natural varianti284 – 2841V → L in PFIC2. 1 Publication
VAR_013332
Natural varianti297 – 2971E → G in PFIC2 and BRIC2; reduced transport capacity for taurocholate. 3 Publications
VAR_010271
Natural varianti336 – 3361C → S in PFIC2. 1 Publication
VAR_030390
Natural varianti461 – 4611K → E in PFIC2. 1 Publication
VAR_013334
Natural varianti482 – 4821D → G in PFIC2. 1 Publication
VAR_013335
Natural varianti982 – 9821G → R in PFIC2. 1 Publication
VAR_013336
Natural varianti1004 – 10041G → D in PFIC2. 1 Publication
VAR_013337
Natural varianti1153 – 11531R → C in PFIC2. 1 Publication
VAR_013338
Natural varianti1268 – 12681R → Q in PFIC2. 1 Publication
VAR_013339
Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti186 – 1861E → G in BRIC2. 1 Publication
VAR_030386
Natural varianti297 – 2971E → G in PFIC2 and BRIC2; reduced transport capacity for taurocholate. 3 Publications
VAR_010271
Natural varianti432 – 4321R → T in BRIC2; reduced transport capacity for taurocholate. 1 Publication
VAR_030391
Natural varianti570 – 5701A → T in BRIC2. 1 Publication
VAR_030392
Natural varianti923 – 9231T → P in BRIC2. 1 Publication
VAR_030394
Natural varianti926 – 9261A → P in BRIC2. 1 Publication
VAR_030395
Natural varianti1050 – 10501R → C in BRIC2. 1 Publication
VAR_030396
Natural varianti1128 – 11281R → H in BRIC2. 1 Publication
VAR_030397

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

MIMi601847. phenotype.
605479. phenotype.
Orphaneti99961. Benign recurrent intrahepatic cholestasis type 2.
69665. Intrahepatic cholestasis of pregnancy.
79304. Progressive familial intrahepatic cholestasis type 2.
PharmGKBiPA374.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13211321Bile salt export pump
PRO_0000093296Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi109 – 1091N-linked (GlcNAc...)1 Publication
Glycosylationi116 – 1161N-linked (GlcNAc...)1 Publication
Glycosylationi122 – 1221N-linked (GlcNAc...)1 Publication
Glycosylationi125 – 1251N-linked (GlcNAc...)1 Publication
Modified residuei690 – 6901Phosphoserine By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO95342.
PaxDbiO95342.
PRIDEiO95342.

PTM databases

PhosphoSiteiO95342.

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

ArrayExpressiO95342.
BgeeiO95342.
CleanExiHS_ABCB11.
GenevestigatoriO95342.

Organism-specific databases

HPAiHPA019035.

Interactioni

Subunit structurei

Interacts with HAX1 By similarity.

Protein-protein interaction databases

BioGridi114199. 6 interactions.
IntActiO95342. 2 interactions.
MINTiMINT-5003953.
STRINGi9606.ENSP00000263817.

Structurei

3D structure databases

ProteinModelPortaliO95342.
SMRiO95342. Positions 18-1316.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini62 – 385324ABC transmembrane type-1 1
Add
BLAST
Domaini420 – 656237ABC transporter 1
Add
BLAST
Domaini755 – 1043289ABC transmembrane type-1 2
Add
BLAST
Domaini1078 – 1316239ABC transporter 2
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni651 – 67222Interaction with HAX1 By similarity
Add
BLAST

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1132.
HOVERGENiHBG080809.
InParanoidiO95342.
KOiK05664.
OMAiTIVWTNS.
PhylomeDBiO95342.
TreeFamiTF105193.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001140. ABC_transptr_TM_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 3 hits.
PROSITEiPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O95342-1 [UniParc]FASTAAdd to Basket

« Hide

MSDSVILRSI KKFGEENDGF ESDKSYNNDK KSRLQDEKKG DGVRVGFFQL     50
FRFSSSTDIW LMFVGSLCAF LHGIAQPGVL LIFGTMTDVF IDYDVELQEL 100
QIPGKACVNN TIVWTNSSLN QNMTNGTRCG LLNIESEMIK FASYYAGIAV 150
AVLITGYIQI CFWVIAAARQ IQKMRKFYFR RIMRMEIGWF DCNSVGELNT 200
RFSDDINKIN DAIADQMALF IQRMTSTICG FLLGFFRGWK LTLVIISVSP 250
LIGIGAATIG LSVSKFTDYE LKAYAKAGVV ADEVISSMRT VAAFGGEKRE 300
VERYEKNLVF AQRWGIRKGI VMGFFTGFVW CLIFLCYALA FWYGSTLVLD 350
EGEYTPGTLV QIFLSVIVGA LNLGNASPCL EAFATGRAAA TSIFETIDRK 400
PIIDCMSEDG YKLDRIKGEI EFHNVTFHYP SRPEVKILND LNMVIKPGEM 450
TALVGPSGAG KSTALQLIQR FYDPCEGMVT VDGHDIRSLN IQWLRDQIGI 500
VEQEPVLFST TIAENIRYGR EDATMEDIVQ AAKEANAYNF IMDLPQQFDT 550
LVGEGGGQMS GGQKQRVAIA RALIRNPKIL LLDMATSALD NESEAMVQEV 600
LSKIQHGHTI ISVAHRLSTV RAADTIIGFE HGTAVERGTH EELLERKGVY 650
FTLVTLQSQG NQALNEEDIK DATEDDMLAR TFSRGSYQDS LRASIRQRSK 700
SQLSYLVHEP PLAVVDHKST YEEDRKDKDI PVQEEVEPAP VRRILKFSAP 750
EWPYMLVGSV GAAVNGTVTP LYAFLFSQIL GTFSIPDKEE QRSQINGVCL 800
LFVAMGCVSL FTQFLQGYAF AKSGELLTKR LRKFGFRAML GQDIAWFDDL 850
RNSPGALTTR LATDASQVQG AAGSQIGMIV NSFTNVTVAM IIAFSFSWKL 900
SLVILCFFPF LALSGATQTR MLTGFASRDK QALEMVGQIT NEALSNIRTV 950
AGIGKERRFI EALETELEKP FKTAIQKANI YGFCFAFAQC IMFIANSASY 1000
RYGGYLISNE GLHFSYVFRV ISAVVLSATA LGRAFSYTPS YAKAKISAAR 1050
FFQLLDRQPP ISVYNTAGEK WDNFQGKIDF VDCKFTYPSR PDSQVLNGLS 1100
VSISPGQTLA FVGSSGCGKS TSIQLLERFY DPDQGKVMID GHDSKKVNVQ 1150
FLRSNIGIVS QEPVLFACSI MDNIKYGDNT KEIPMERVIA AAKQAQLHDF 1200
VMSLPEKYET NVGSQGSQLS RGEKQRIAIA RAIVRDPKIL LLDEATSALD 1250
TESEKTVQVA LDKAREGRTC IVIAHRLSTI QNADIIAVMA QGVVIEKGTH 1300
EELMAQKGAY YKLVTTGSPI S 1321
Length:1,321
Mass (Da):146,407
Last modified:November 3, 2009 - v2
Checksum:i61EE2173E2351D80
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561S → L.
Corresponds to variant rs11568361 [ dbSNP | Ensembl ].
VAR_055472
Natural varianti186 – 1861E → G in BRIC2. 1 Publication
VAR_030386
Natural varianti206 – 2061I → V.1 Publication
Corresponds to variant rs11568357 [ dbSNP | Ensembl ].
VAR_030387
Natural varianti238 – 2381G → V in PFIC2. 1 Publication
VAR_030388
Natural varianti284 – 2841V → A.2 Publications
VAR_035349
Natural varianti284 – 2841V → L in PFIC2. 1 Publication
VAR_013332
Natural varianti297 – 2971E → G in PFIC2 and BRIC2; reduced transport capacity for taurocholate. 3 Publications
VAR_010271
Natural varianti299 – 2991R → K.1 Publication
Corresponds to variant rs2287617 [ dbSNP | Ensembl ].
VAR_030389
Natural varianti336 – 3361C → S in PFIC2. 1 Publication
VAR_030390
Natural varianti415 – 4151R → Q.1 Publication
VAR_043074
Natural varianti432 – 4321R → T in BRIC2; reduced transport capacity for taurocholate. 1 Publication
VAR_030391
Natural varianti444 – 4441V → A More frequent in patients with drug-induced cholestasis than healthy controls; associated with lower hepatic expression; does not affect transport capacity for taurocholate. 6 Publications
Corresponds to variant rs2287622 [ dbSNP | Ensembl ].
VAR_013333
Natural varianti444 – 4441V → D.
Corresponds to variant rs2287622 [ dbSNP | Ensembl ].
VAR_059106
Natural varianti444 – 4441V → G.
Corresponds to variant rs2287622 [ dbSNP | Ensembl ].
VAR_059107
Natural varianti461 – 4611K → E in PFIC2. 1 Publication
VAR_013334
Natural varianti482 – 4821D → G in PFIC2. 1 Publication
VAR_013335
Natural varianti570 – 5701A → T in BRIC2. 1 Publication
VAR_030392
Natural varianti591 – 5911N → S in a patient with intrahepatic cholestasis of pregnancy. 1 Publication
Corresponds to variant rs11568367 [ dbSNP | Ensembl ].
VAR_043075
Natural varianti616 – 6161R → G.1 Publication
VAR_035350
Natural varianti619 – 6191T → A.1 Publication
VAR_035351
Natural varianti676 – 6761D → Y in fluvastatin-induced cholestasis; does not affect transport capacity for taurocholate. 1 Publication
VAR_043076
Natural varianti677 – 6771M → V Does not affect transport capacity for taurocholate. 4 Publications
Corresponds to variant rs11568364 [ dbSNP | Ensembl ].
VAR_030393
Natural varianti698 – 6981R → H.2 Publications
Corresponds to variant rs138642043 [ dbSNP | Ensembl ].
VAR_035352
Natural varianti855 – 8551G → R in ethinylestradiol/gestodene-induced cholestasis; loss of transport capacity for taurocholate. 1 Publication
VAR_043077
Natural varianti865 – 8651A → V.1 Publication
Corresponds to variant rs118109635 [ dbSNP | Ensembl ].
VAR_035353
Natural varianti923 – 9231T → P in BRIC2. 1 Publication
VAR_030394
Natural varianti926 – 9261A → P in BRIC2. 1 Publication
VAR_030395
Natural varianti958 – 9581R → Q.1 Publication
VAR_035354
Natural varianti982 – 9821G → R in PFIC2. 1 Publication
VAR_013336
Natural varianti1004 – 10041G → D in PFIC2. 1 Publication
VAR_013337
Natural varianti1050 – 10501R → C in BRIC2. 1 Publication
VAR_030396
Natural varianti1128 – 11281R → H in BRIC2. 1 Publication
VAR_030397
Natural varianti1153 – 11531R → C in PFIC2. 1 Publication
VAR_013338
Natural varianti1186 – 11861E → K.
Corresponds to variant rs1521808 [ dbSNP | Ensembl ].
VAR_030398
Natural varianti1268 – 12681R → Q in PFIC2. 1 Publication
VAR_013339

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti339 – 3391L → V in AAC77455. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS46444.1.
RefSeqiNP_003733.2. NM_003742.2.
UniGeneiHs.658439.

Genome annotation databases

EnsembliENST00000263817; ENSP00000263817; ENSG00000073734.
ENST00000576612; ENSP00000459250; ENSG00000263298.
GeneIDi8647.
KEGGihsa:8647.
UCSCiuc002ueo.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.658439.

3D structure databases

ProteinModelPortali O95342.
SMRi O95342. Positions 18-1316.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114199. 6 interactions.
IntActi O95342. 2 interactions.
MINTi MINT-5003953.
STRINGi 9606.ENSP00000263817.

Chemistry

BindingDBi O95342.
ChEMBLi CHEMBL6020.
DrugBanki DB00171. Adenosine triphosphate.
DB00559. Bosentan.
DB01016. Glibenclamide.

Protein family/group databases

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

PTM databases

PhosphoSitei O95342.

Proteomic databases

MaxQBi O95342.
PaxDbi O95342.
PRIDEi O95342.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263817 ; ENSP00000263817 ; ENSG00000073734 .
ENST00000576612 ; ENSP00000459250 ; ENSG00000263298 .
GeneIDi 8647.
KEGGi hsa:8647.
UCSCi uc002ueo.1. human.

Organism-specific databases

CTDi 8647.
GeneCardsi GC02M169743.
GeneReviewsi ABCB11.
H-InvDB HIX0029772.
HGNCi HGNC:42. ABCB11.
HPAi HPA019035.
MIMi 601847. phenotype.
603201. gene.
605479. phenotype.
neXtProti NX_O95342.
Orphaneti 99961. Benign recurrent intrahepatic cholestasis type 2.
69665. Intrahepatic cholestasis of pregnancy.
79304. Progressive familial intrahepatic cholestasis type 2.
PharmGKBi PA374.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1132.
HOVERGENi HBG080809.
InParanoidi O95342.
KOi K05664.
OMAi TIVWTNS.
PhylomeDBi O95342.
TreeFami TF105193.

Enzyme and pathway databases

Reactomei REACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
REACT_11042. Recycling of bile acids and salts.

Miscellaneous databases

ChiTaRSi ABCB11. human.
GeneWikii ABCB11.
GenomeRNAii 8647.
NextBioi 32419.
PROi O95342.
SOURCEi Search...

Gene expression databases

ArrayExpressi O95342.
Bgeei O95342.
CleanExi HS_ABCB11.
Genevestigatori O95342.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001140. ABC_transptr_TM_dom.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view ]
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 3 hits.
PROSITEi PS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS PFIC2 GLY-297; GLU-461; GLY-482; ARG-982; CYS-1153 AND GLN-1268.
  2. "Cellular localization and functional characterization of the human bile salt export pump (BSEP)."
    Mol O., Hooiveld G.J.E.J., Jansen P.L.M., Muller M.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-444.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Two N-linked glycans are required to maintain the transport activity of the bile salt export pump (ABCB11) in MDCK II cells."
    Mochizuki K., Kagawa T., Numari A., Harris M.J., Itoh J., Watanabe N., Mine T., Arias I.M.
    Am. J. Physiol. 292:G818-G828(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-109; ASN-116; ASN-122 AND ASN-125.
  5. Cited for: VARIANTS PFIC2 VAL-238 AND SER-336.
  6. "Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population."
    Saito S., Iida A., Sekine A., Miura Y., Ogawa C., Kawauchi S., Higuchi S., Nakamura Y.
    J. Hum. Genet. 47:38-50(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALA-444.
  7. "FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels."
    Chen H.-L., Chang P.-S., Hsu H.-C., Ni Y.-H., Hsu H.-Y., Lee J.-H., Jeng Y.-M., Shau W.-Y., Chang M.-H.
    J. Pediatr. 140:119-124(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PFIC2 LEU-284 AND ASP-1004.
  8. Cited for: VARIANTS BRIC2 GLY-186; GLY-297; THR-570; PRO-923; PRO-926; CYS-1050 AND HIS-1128.
  9. "Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy."
    Pauli-Magnus C., Lang T., Meier Y., Zodan-Marin T., Jung D., Breymann C., Zimmermann R., Kenngott S., Beuers U., Reichel C., Kerb R., Penger A., Meier P.J., Kullak-Ublick G.A.
    Pharmacogenetics 14:91-102(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLN-415; ALA-444; SER-591 AND VAL-677.
  10. "Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis."
    Noe J., Kullak-Ublick G.A., Jochum W., Stieger B., Kerb R., Haberl M., Muellhaupt B., Meier P.J., Pauli-Magnus C.
    J. Hepatol. 43:536-543(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BRIC2 GLY-297 AND THR-432, CHARACTERIZATION OF VARIANTS BRIC2 GLY-297 AND THR-432.
  11. "Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11)."
    Lang T., Haberl M., Jung D., Drescher A., Schlagenhaufer R., Keil A., Mornhinweg E., Stieger B., Kullak-Ublick G.A., Kerb R.
    Drug Metab. Dispos. 34:1582-1599(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VAL-206; ALA-284; LYS-299; ALA-444; GLY-616; ALA-619; VAL-677; HIS-698; VAL-865 AND GLN-958.
  12. "Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver."
    Meier Y., Pauli-Magnus C., Zanger U.M., Klein K., Schaeffeler E., Nussler A.K., Nussler N., Eichelbaum M., Meier P.J., Stieger B.
    Hepatology 44:62-74(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-444 AND VAL-677.
  13. "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.

Entry informationi

Entry nameiABCBB_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

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