ATP8B1
entrez
5205
canonical
uniprot
O43520
canonical
ensembl
ENSG00000081923
resolver
ensp
ENSP00000497896
resolver
ensp
ENSP00000527680
resolver
ensp
ENSP00000527681
resolver
ensp
ENSP00000527682
resolver
ensp
ENSP00000527684
resolver
ensp
ENSP00000527685
resolver
ensp
ENSP00000527687
resolver
ensp
ENSP00000527688
resolver
ensp
ENSP00000608357
resolver
ensp
ENSP00000637667
resolver
ensp
ENSP00000637668
resolver
ensp
ENSP00000637669
resolver
ensp
ENSP00000637670
resolver
enst
ENST00000648908
resolver
enst
ENST00000857621
resolver
enst
ENST00000857625
resolver
enst
ENST00000857626
resolver
enst
ENST00000857628
resolver
enst
ENST00000857629
resolver
enst
ENST00000938298
resolver
enst
ENST00000967608
resolver
enst
ENST00000967609
resolver
enst
ENST00000967610
resolver
enst
ENST00000967611
resolver
genesymbol
ATP8B1
resolver
genesymbol_syn
ATPIC
resolver
genesymbol_syn
FIC1
resolver
genesymbol_syn
PFIC
resolver
hgnc
HGNC:3706
resolver
uniprot
Q9BTP8
resolver
uniprot_entry
AT8B1_HUMAN
resolver
uniprot_sec
Q9BTP8
resolver
amino_acid_sequence
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVDRTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDRKRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISKLAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKRRLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASALVITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNALRQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRRGVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS
uniprot
proteins
disease_involvement
DISEASE: Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive. {ECO:0000269|PubMed:11093741, ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:20038848, ECO:0000269|PubMed:23197899, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]: 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. {ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542, ECO:0000269|PubMed:9918928}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. {ECO:0000269|PubMed:15657619, ECO:0000269|PubMed:15888793, ECO:0000269|PubMed:19731236}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.6.2.1
uniprot
proteins
function
FUNCTION: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:17948906, PubMed:25315773). May participate in the establishment of the canalicular membrane integrity by ensuring asymmetric distribution of phospholipids in the canicular membrane (By similarity). Thus may have a role in the regulation of bile acids transport into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both and protect hepatocytes from bile salts (By similarity). Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity (PubMed:20512993). Participates in correct apical membrane localization of CDC42, CFTR and SLC10A2 (PubMed:25239307, PubMed:27301931). Enables CDC42 clustering at the apical membrane during enterocyte polarization through the interaction between CDC42 polybasic region and negatively charged membrane lipids provided by ATP8B1 (By similarity). Together with CDC50A is involved in uptake of the synthetic drug alkylphospholipid perifosine (PubMed:20510206). Required for the preservation of cochlear hair cells in the inner ear (By similarity). May act as cardiolipin transporter during inflammatory injury (By similarity). {ECO:0000250|UniProtKB:Q148W0, ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20510206, ECO:0000269|PubMed:20512993, ECO:0000269|PubMed:25239307, ECO:0000269|PubMed:27301931}.
uniprot
proteins
mass_dalton
143695
uniprot
proteins
mutagenesis
MUTAGEN 234; /note="E->Q: Impaired PC flippase activity."; /evidence="ECO:0000269|PubMed:25315773"; MUTAGEN 454; /note="D->A: Greatly reduced expression due to proteosomal degradation; abolishes interaction with CDC50A."; /evidence="ECO:0000269|PubMed:19731236
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IV subfamily
uniprot
proteins
pubmed
11093741
uniprot
proteins
pubmed
15239083
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15657619
uniprot
proteins
pubmed
15888793
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17948906
uniprot
proteins
pubmed
19731236
uniprot
proteins
pubmed
20038848
uniprot
proteins
pubmed
20510206
uniprot
proteins
pubmed
20512993
uniprot
proteins
pubmed
20947505
uniprot
proteins
pubmed
20961850
uniprot
proteins
pubmed
21914794
uniprot
proteins
pubmed
23197899
uniprot
proteins
pubmed
25239307
uniprot
proteins
pubmed
25315773
uniprot
proteins
pubmed
27301931
uniprot
proteins
pubmed
9500542
uniprot
proteins
pubmed
9548971
uniprot
proteins
pubmed
9918928
uniprot
proteins
sequence_length
1251
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:20961850, ECO:0000269|PubMed:21914794, ECO:0000269|PubMed:25315773}; Multi-pass membrane protein. Apical cell membrane {ECO:0000269|PubMed:20512993}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q148W0}. Endoplasmic reticulum {ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:20961850, ECO:0000269|PubMed:21914794}. Golgi apparatus {ECO:0000269|PubMed:20961850}. Note=Exit from the endoplasmic reticulum requires the presence of CDC50A or CDC50B (PubMed:20947505). Localizes to apical membranes in epithelial cells (PubMed:20512993). {ECO:0000269|PubMed:20512993, ECO:0000269|PubMed:20947505}.
uniprot
proteins
transmembrane_region
TRANSMEM 109..130; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 137..156; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 341..362; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 390..411; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 950..970; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 983..1002; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1033..1054; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1069..1091; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1098..1118; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1139..1163; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins