ABCB11

Protein identityUniProt · HPA

UniProt accession

O95342

Gene

ABCB11

Ensembl

ENSG00000073734

Chromosome

2

Canonical length

1321 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1321 residues, UniProt reviewed canonical sequence.

>O95342|ABCB11
     1  MSDSVILRSI KKFGEENDGF ESDKSYNNDK KSRLQDEKKG DGVRVGFFQL FRFSSSTDIW
    61  LMFVGSLCAF LHGIAQPGVL LIFGTMTDVF IDYDVELQEL QIPGKACVNN TIVWTNSSLN
   121  QNMTNGTRCG LLNIESEMIK FASYYAGIAV AVLITGYIQI CFWVIAAARQ IQKMRKFYFR
   181  RIMRMEIGWF DCNSVGELNT RFSDDINKIN DAIADQMALF IQRMTSTICG FLLGFFRGWK
   241  LTLVIISVSP LIGIGAATIG LSVSKFTDYE LKAYAKAGVV ADEVISSMRT VAAFGGEKRE
   301  VERYEKNLVF AQRWGIRKGI VMGFFTGFVW CLIFLCYALA FWYGSTLVLD EGEYTPGTLV
   361  QIFLSVIVGA LNLGNASPCL EAFATGRAAA TSIFETIDRK PIIDCMSEDG YKLDRIKGEI
   421  EFHNVTFHYP SRPEVKILND LNMVIKPGEM TALVGPSGAG KSTALQLIQR FYDPCEGMVT
   481  VDGHDIRSLN IQWLRDQIGI VEQEPVLFST TIAENIRYGR EDATMEDIVQ AAKEANAYNF
   541  IMDLPQQFDT LVGEGGGQMS GGQKQRVAIA RALIRNPKIL LLDMATSALD NESEAMVQEV
   601  LSKIQHGHTI ISVAHRLSTV RAADTIIGFE HGTAVERGTH EELLERKGVY FTLVTLQSQG
   661  NQALNEEDIK DATEDDMLAR TFSRGSYQDS LRASIRQRSK SQLSYLVHEP PLAVVDHKST
   721  YEEDRKDKDI PVQEEVEPAP VRRILKFSAP EWPYMLVGSV GAAVNGTVTP LYAFLFSQIL
   781  GTFSIPDKEE QRSQINGVCL LFVAMGCVSL FTQFLQGYAF AKSGELLTKR LRKFGFRAML
   841  GQDIAWFDDL RNSPGALTTR LATDASQVQG AAGSQIGMIV NSFTNVTVAM IIAFSFSWKL
   901  SLVILCFFPF LALSGATQTR MLTGFASRDK QALEMVGQIT NEALSNIRTV AGIGKERRFI
   961  EALETELEKP FKTAIQKANI YGFCFAFAQC IMFIANSASY RYGGYLISNE GLHFSYVFRV
  1021  ISAVVLSATA LGRAFSYTPS YAKAKISAAR FFQLLDRQPP ISVYNTAGEK WDNFQGKIDF
  1081  VDCKFTYPSR PDSQVLNGLS VSISPGQTLA FVGSSGCGKS TSIQLLERFY DPDQGKVMID
  1141  GHDSKKVNVQ FLRSNIGIVS QEPVLFACSI MDNIKYGDNT KEIPMERVIA AAKQAQLHDF
  1201  VMSLPEKYET NVGSQGSQLS RGEKQRIAIA RAIVRDPKIL LLDEATSALD TESEKTVQVA
  1261  LDKAREGRTC IVIAHRLSTI QNADIIAVMA QGVVIEKGTH EELMAQKGAY YKLVTTGSPI
  1321  S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCB11 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

11

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

75 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCB11.

Disease | AllUniProt

Conditions ABCB11 is implicated in, by any mechanism.

• Cholestasis, progressive familial intrahepatic, 2 (PFIC2) MIM:601847
• Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) MIM:605479

Disease | GeneticClinVar

390 pathogenic / likely-pathogenic of 2,194 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Progressive familial intrahepatic cholestasis type 2
• Familial intrahepatic cholestasis
• Benign recurrent intrahepatic cholestasis type 2
• ABCB11-related disorder
• Progressive familial intrahepatic cholestasis

Disease | ImmuneIEDB

Conditions an epitope on ABCB11 was assayed in.

• liver disease T cell
• cardiovascular system disease T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.64

gnomAD pLI

0

gnomAD missense Z

1.11

DepMap mean gene effect

-0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bile acid and bile salt transport
• bile acid biosynthetic process
• bile acid metabolic process
• cholesterol homeostasis
• fatty acid metabolic process
• lipid homeostasis
• phospholipid homeostasis
• protein ubiquitination
• regulation of bile acid metabolic process
• regulation of fatty acid beta-oxidation
• transmembrane transport
• xenobiotic export from cell
• xenobiotic metabolic process
• xenobiotic transmembrane transport
• canalicular bile acid transport
• positive regulation of bile acid secretion

Molecular functions

• ABC-type bile acid transporter activity
• ABC-type xenobiotic transporter activity
• ATP binding
• ATP hydrolysis activity
• bile acid transmembrane transporter activity
• canalicular bile acid transmembrane transporter activity

Cellular components

• apical plasma membrane
• cell surface
• endosome
• extracellular exosome
• intercellular canaliculus
• intracellular canaliculus
• plasma membrane
• recycling endosome
• recycling endosome membrane

Protein domainsUniProt · Pfam · InterPro

• ABC transporter-like, ATP-binding domain
• AAA+ ATPase domain
• ABC transporter type 1, transmembrane domain
• ABC transporter-like, conserved site
• P-loop containing nucleoside triphosphate hydrolase
• ABC transporter type 1, transmembrane domain superfamily
• Type 1 protein exporter
• ABC transporter
• ABC transporter transmembrane region

KeywordsUniProt

• ATP-binding
• Cell membrane
• Endosome
• Glycoprotein
• Intrahepatic cholestasis
• Lipid transport
• Membrane
• Nucleotide-binding
• Phosphoprotein
• Repeat
• Translocase
• Transmembrane
• Transmembrane helix
• Transport
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of ABCB11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HAX1
• AP2A1
• AP2A2