• Gene id: 5244

Gene Summary

• Gene Symbol: ABCB4   Gene   UCSC   Ensembl
• Aliases: ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3
• Gene name: ATP binding cassette subfamily B member 4
• Alternate names: phosphatidylcholine translocator ABCB4, ATP-binding cassette sub-family B member 4, ATP-binding cassette, sub-family B (MDR/TAP), member 4, P-glycoprotein 3, P-glycoprotein-3/multiple drug resistance-3, multidrug resistance protein 3, multiple drug resistance 3,
• Gene location: 7q21.12 (87476721: 87398987)     Exons: 31     NC_000007.14
• 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 distinc
• OMIM: 171060

Protein Summary

• Protein general information: P21439  
  • Name: Phosphatidylcholine translocator ABCB4 (EC 7.6.2.1) (ATP binding cassette sub family B member 4) (Multidrug resistance protein 3) (P glycoprotein 3)
  • Length: 1286  
  • Mass: 141523
• Sequence:

  MDLEAAKNGTAWRPTSAEGDFELGISSKQKRKKTKTVKMIGVLTLFRYSDWQDKLFMSLGTIMAIAHGSGLPLMM
  IVFGEMTDKFVDTAGNFSFPVNFSLSLLNPGKILEEEMTRYAYYYSGLGAGVLVAAYIQVSFWTLAAGRQIRKIR
  QKFFHAILRQEIGWFDINDTTELNTRLTDDISKISEGIGDKVGMFFQAVATFFAGFIVGFIRGWKLTLVIMAISP
  ILGLSAAVWAKILSAFSDKELAAYAKAGAVAEEALGAIRTVIAFGGQNKELERYQKHLENAKEIGIKKAISANIS
  MGIAFLLIYASYALAFWYGSTLVISKEYTIGNAMTVFFSILIGAFSVGQAAPCIDAFANARGAAYVIFDIIDNNP
  KIDSFSERGHKPDSIKGNLEFNDVHFSYPSRANVKILKGLNLKVQSGQTVALVGSSGCGKSTTVQLIQRLYDPDE
  GTINIDGQDIRNFNVNYLREIIGVVSQEPVLFSTTIAENICYGRGNVTMDEIKKAVKEANAYEFIMKLPQKFDTL
  VGERGAQLSGGQKQRIAIARALVRNPKILLLDEATSALDTESEAEVQAALDKAREGRTTIVIAHRLSTVRNADVI
  AGFEDGVIVEQGSHSELMKKEGVYFKLVNMQTSGSQIQSEEFELNDEKAATRMAPNGWKSRLFRHSTQKNLKNSQ
  MCQKSLDVETDGLEANVPPVSFLKVLKLNKTEWPYFVVGTVCAIANGGLQPAFSVIFSEIIAIFGPGDDAVKQQK
  CNIFSLIFLFLGIISFFTFFLQGFTFGKAGEILTRRLRSMAFKAMLRQDMSWFDDHKNSTGALSTRLATDAAQVQ
  GATGTRLALIAQNIANLGTGIIISFIYGWQLTLLLLAVVPIIAVSGIVEMKLLAGNAKRDKKELEAAGKIATEAI
  ENIRTVVSLTQERKFESMYVEKLYGPYRNSVQKAHIYGITFSISQAFMYFSYAGCFRFGAYLIVNGHMRFRDVIL
  VFSAIVFGAVALGHASSFAPDYAKAKLSAAHLFMLFERQPLIDSYSEEGLKPDKFEGNITFNEVVFNYPTRANVP
  VLQGLSLEVKKGQTLALVGSSGCGKSTVVQLLERFYDPLAGTVFVDFGFQLLDGQEAKKLNVQWLRAQLGIVSQE
  PILFDCSIAENIAYGDNSRVVSQDEIVSAAKAANIHPFIETLPHKYETRVGDKGTQLSGGQKQRIAIARALIRQP
  QILLLDEATSALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEHGTHQQLLAQKGIYFS
  MVSVQAGTQNL

• Structural information:
  • Protein Domains: (57..35-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (394..63-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (711..99-)
    type-1 (/note="ABC-transmembrane)
    (-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR030275  IPR027417  IPR039421  
  • Prosite: PS50929 PS00211 PS50893
  • PDB: 6S7P
  • PDBsum: 6S7P
  • STRING: ENSP00000265723
• Other Databases: GeneCards:  ABCB4  Malacards:  ABCB4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0045332	phospholipid translocation	IBA	biological process
GO:0090554	phosphatidylcholine floppase activity	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IDA	molecular function
GO:0061092	positive regulation of phospholipid translocation	IDA	biological process
GO:0032376	positive regulation of cholesterol transport	IDA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:2001140	positive regulation of phospholipid transport	IDA	biological process
GO:1903413	cellular response to bile acid	IDA	biological process
GO:0090554	phosphatidylcholine floppase activity	IDA	molecular function
GO:0055088	lipid homeostasis	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IMP	molecular function
GO:0032376	positive regulation of cholesterol transport	IMP	biological process
GO:0045332	phospholipid translocation	IMP	biological process
GO:0090554	phosphatidylcholine floppase activity	IMP	molecular function
GO:0032782	bile acid secretion	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1901557	response to fenofibrate	ISS	biological process
GO:2001140	positive regulation of phospholipid transport	IMP	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:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005548	phospholipid transporter activity	TAS	molecular function
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:1901557	response to fenofibrate	IEA	biological process
GO:0046581	intercellular canaliculus	IEA	cellular component
GO:0032782	bile acid secretion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0099038	ceramide floppase activity	IDA	NOT|molecular function
GO:0090554	phosphatidylcholine floppase activity	IDA	molecular function
GO:0099040	ceramide translocation	IDA	NOT|biological process
GO:0045332	phospholipid translocation	IDA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0090554	phosphatidylcholine floppase activity	IDA	molecular function
GO:0090554	phosphatidylcholine floppase activity	IMP	molecular function
GO:0099040	ceramide translocation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04976	Bile secretion
hsa02010	ABC transporters

Diseases

Associated diseases	References
Progressive familial intrahepatic cholestasis	KEGG:H00624
Intrahepatic cholestasis of pregnancy	KEGG:H02193
Gallbladder disease	KEGG:H01213
Progressive familial intrahepatic cholestasis	KEGG:H00624
Intrahepatic cholestasis of pregnancy	KEGG:H02193
Gallbladder disease	KEGG:H01213
Gallbladder disease	PMID:24914347
Primary biliary cirrhosis	PMID:18671305
Cholestasis	PMID:26324191
Intrahepatic cholestasis	PMID:18781607
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881