Names & Taxonomy

Uniprot ID:
O43520
Entry Name:
AT8B1_HUMAN
Status:
reviewed
Protein Names:
Phospholipid-transporting ATPase IC (EC 3.6.3.1) (ATPase class I type 8B member 1) (Familial intrahepatic cholestasis type 1) (P4-ATPase flippase complex alpha subunit ATP8B1)
Gene Names:
ATP8B1 ATPIC FIC1 PFIC
Gene Names Primary:
ATP8B1
Organism:
Homo sapiens (Human)

Structure

Length:
1251
Sequence:
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVDRTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDRKRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISKLAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKRRLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASALVITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNALRQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRRGVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Cell membrane

Function

Function:
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both. In cooperation with ABCB4 may be involved in establishing integrity of the canalicular membrane thus protecting hepatocytes from bile salts. Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine. Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity. Required for the preservation of cochlear hair cells in the inner ear. May act as cardiolipin transporter during inflammatory injury.
Catalytic Activity:
ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).
Active Site:
ACT_SITE 454 454 4-aspartylphosphate intermediate.
Gene Ontology Go:
apical plasma membrane
brush border membrane
endoplasmic reticulum
Golgi apparatus
integral component of plasma membrane
plasma membrane
stereocilium
ATP binding
cardiolipin binding
magnesium ion binding
phospholipid-translocating ATPase activity
bile acid and bile salt transport
bile acid metabolic process
drug transmembrane transport
Golgi organization
inner ear receptor cell development
ion transmembrane transport
negative regulation of transcription, DNA-templated
phospholipid translocation
regulation of microvillus assembly
sensory perception of sound
transmembrane transport
vestibulocochlear nerve formation
Gene Ontology Biological Process:
bile acid and bile salt transport
bile acid metabolic process
drug transmembrane transport
Golgi organization
inner ear receptor cell development
ion transmembrane transport
negative regulation of transcription, DNA-templated
phospholipid translocation
regulation of microvillus assembly
sensory perception of sound
transmembrane transport
vestibulocochlear nerve formation
Gene Ontology Molecular Function:
ATP binding
cardiolipin binding
magnesium ion binding
phospholipid-translocating ATPase activity
Gene Ontology Cellular Component:
apical plasma membrane
brush border membrane
endoplasmic reticulum
Golgi apparatus
integral component of plasma membrane
plasma membrane
stereocilium
Keywords:
ATP-binding
Cell membrane
Cell projection
Complete proteome
Disease mutation
Endoplasmic reticulum
Golgi apparatus
Hearing
Hydrolase
Intrahepatic cholestasis
Lipid transport
Magnesium
Membrane
Metal-binding
Nucleotide-binding
Phosphoprotein
Polymorphism
Reference proteome
Transmembrane
Transmembrane helix
Transport
Interacts With:
Q9NV96

Publication

PubMed ID:
9500542 16177791 9548971 15489334 17948906 20510206 20512993 20947505 20961850 21914794 9918928 11093741 15239083 15657619 15888793 16959974 19731236 20038848 23197899