• Gene id: 8647

Gene Summary

• Gene Symbol: ABCB11   Gene   UCSC   Ensembl
• Aliases: ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP
• Gene name: ATP binding cassette subfamily B member 11
• Alternate names: bile salt export pump, ABC member 16, MDR/TAP subfamily, ATP-binding cassette sub-family B member 11, ATP-binding cassette, sub-family B (MDR/TAP), member 11, progressive familial intrahepatic cholestasis 2, sister p-glycoprotein,
• Gene location: 2q31.1 (169031395: 168915467)     Exons: 30     NC_000002.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: O95342  
  • Name: Bile salt export pump (EC 7.6.2. ) (ATP binding cassette sub family B member 11)
  • Length: 1321  
  • Mass: 146407
  • Tissue specificity: 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.
• Sequence:

  MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIA
  QPGVLLIFGTMTDVFIDYDVELQELQIPGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAV
  AVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKINDAIADQMALFIQRMT
  STICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKRE
  VERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGN
  ASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEIEFHNVTFHYPSRPEVKILNDLNMVIKPGEM
  TALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATM
  EDIVQAAKEANAYNFIMDLPQQFDTLVGEGGGQMSGGQKQRVAIARALIRNPKILLLDMATSALDNESEAMVQEV
  LSKIQHGHTIISVAHRLSTVRAADTIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATED
  DMLARTFSRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAPVRRILKFSAP
  EWPYMLVGSVGAAVNGTVTPLYAFLFSQILGTFSIPDKEEQRSQINGVCLLFVAMGCVSLFTQFLQGYAFAKSGE
  LLTKRLRKFGFRAMLGQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKL
  SLVILCFFPFLALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFKTAI
  QKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAVVLSATALGRAFSYTPSYAKAKISAAR
  FFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQL
  LERFYDPDQGKVMIDGHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDF
  VMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALDKAREGRTCIVIAH
  RLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPIS

• Structural information:
  • Protein Domains: (62..38-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (420..65-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (755..104-)
    type-1 (/note="ABC-transmembrane)
    (-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR030278  IPR027417  IPR039421  
  • Prosite: PS50929 PS00211 PS50893
  • STRING: ENSP00000263817
• Other Databases: GeneCards:  ABCB11  Malacards:  ABCB11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055085	transmembrane transport	IBA	biological process
GO:0015126	canalicular bile acid transmembrane transporter activity	IBA	molecular function
GO:0015722	canalicular bile acid transport	IBA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0015432	ATPase-coupled bile acid transmembrane transporter activity	IDA	molecular function
GO:0015721	bile acid and bile salt transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0015721	bile acid and bile salt transport	IMP	biological process
GO:0015721	bile acid and bile salt transport	ISS	biological process
GO:0015125	bile acid transmembrane transporter activity	ISS	molecular function
GO:0015126	canalicular bile acid transmembrane transporter activity	ISS	molecular function
GO:1904251	regulation of bile acid metabolic process	ISS	biological process
GO:0015722	canalicular bile acid transport	ISS	biological process
GO:0055091	phospholipid homeostasis	ISS	biological process
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0015721	bile acid and bile salt transport	ISS	biological process
GO:0015126	canalicular bile acid transmembrane transporter activity	IMP	molecular function
GO:0015722	canalicular bile acid transport	IMP	biological process
GO:0015432	ATPase-coupled bile acid transmembrane transporter activity	IMP	molecular function
GO:0015721	bile acid and bile salt transport	IMP	biological process
GO:0055038	recycling endosome membrane	ISS	cellular component
GO:0016323	basolateral plasma membrane	ISS	NOT|cellular component
GO:0015432	ATPase-coupled bile acid transmembrane transporter activity	ISS	molecular function
GO:0006855	drug transmembrane transport	ISS	biological process
GO:0015721	bile acid and bile salt transport	IMP	biological process
GO:0015432	ATPase-coupled bile acid transmembrane transporter activity	IMP	molecular function
GO:0006855	drug transmembrane transport	IMP	biological process
GO:0016567	protein ubiquitination	ISS	biological process
GO:0016567	protein ubiquitination	IMP	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0055088	lipid homeostasis	ISS	biological process
GO:0031998	regulation of fatty acid beta-oxidation	ISS	biological process
GO:0006631	fatty acid metabolic process	ISS	biological process
GO:0120189	positive regulation of bile acid secretion	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046691	intracellular canaliculus	ISS	cellular component
GO:0009986	cell surface	IMP	cellular component
GO:0016324	apical plasma membrane	IMP	cellular component
GO:0015721	bile acid and bile salt transport	IEA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0008554	sodium transmembrane transporter activity, phosphorylative mechanism	TAS	molecular function
GO:0005215	transporter activity	TAS	molecular function
GO:0015432	ATPase-coupled bile acid transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0015432	ATPase-coupled bile acid transmembrane transporter activity	TAS	molecular function
GO:0015721	bile acid and bile salt transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045177	apical part of cell	IEA	cellular component
GO:0046581	intercellular canaliculus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01522	Endocrine resistance
hsa04976	Bile secretion
hsa02010	ABC transporters
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Progressive familial intrahepatic cholestasis	KEGG:H00624
Benign recurrent intrahepatic cholestasis	KEGG:H02192
Progressive familial intrahepatic cholestasis	KEGG:H00624
Benign recurrent intrahepatic cholestasis	KEGG:H02192
Progressive familial intrahepatic cholestasis 2	PMID:20447715
Intrahepatic cholestasis	PMID:9806540
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray