Tag |
Content |
dbPAF ID |
dbPAF-0001563 |
Uniprot Accession |
O43520; AT8B1_HUMAN; Q9BTP8; |
Genbank Protein ID |
NP_005594.1; XP_006722544.1; XP_011524322.1; XP_011524323.1; XP_011524324.1; |
Genbank Nucleotide ID |
NM_005603.4; XM_006722481.2; XM_011526020.1; XM_011526021.1; XM_011526022.1; |
Protein Name |
Phospholipid-transporting ATPase IC |
Protein Synonyms/Alias |
ATPase class I type 8B member 1;Familial intrahepatic cholestasis type 1;P4-ATPase flippase complex alpha subunit ATP8B1; |
Gene Name |
ATP8B1 |
Gene Synonyms/Alias |
ATPIC;FIC1;PFIC; |
Organism |
Homo sapiens(Human) |
NCBI Taxa ID |
9606 |
Functional Description (View all) |
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.Functional Description
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.
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Phosphorylation Sites
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dbPAF PTMs: 20 |
Sequence (Fasta) | MSTERDSETT FDEDSQPNDE VVPYSDDETE DELDDQGSAV EPEQNRVNRE AEENREPFRK 60 ECTWQVKAND RKYHEQPHFM NTKFLCIKES KYANNAIKTY KYNAFTFIPM NLFEQFKRAA 120 NLYFLALLIL QAVPQISTLA WYTTLVPLLV VLGVTAIKDL VDDVARHKMD KEINNRTCEV 180 IKDGRFKVAK WKEIQVGDVI RLKKNDFVPA DILLLSSSEP NSLCYVETAE LDGETNLKFK 240 MSLEITDQYL QREDTLATFD GFIECEEPNN RLDKFTGTLF WRNTSFPLDA DKILLRGCVI 300 RNTDFCHGLV IFAGADTKIM KNSGKTRFKR TKIDYLMNYM VYTIFVVLIL LSAGLAIGHA 360 YWEAQVGNSS WYLYDGEDDT PSYRGFLIFW GYIIVLNTMV PISLYVSVEV IRLGQSHFIN 420 WDLQMYYAEK DTPAKARTTT LNEQLGQIHY IFSDKTGTLT QNIMTFKKCC INGQIYGDHR 480 DASQHNHNKI EQVDFSWNTY ADGKLAFYDH YLIEQIQSGK EPEVRQFFFL LAVCHTVMVD 540 RTDGQLNYQA ASPDEGALVN AARNFGFAFL ARTQNTITIS ELGTERTYNV LAILDFNSDR 600 KRMSIIVRTP EGNIKLYCKG ADTVIYERLH RMNPTKQETQ DALDIFANET LRTLCLCYKE 660 IEEKEFTEWN KKFMAASVAS TNRDEALDKV YEEIEKDLIL LGATAIEDKL QDGVPETISK 720 LAKADIKIWV LTGDKKETAE NIGFACELLT EDTTICYGED INSLLHARME NQRNRGGVYA 780 KFAPPVQESF FPPGGNRALI ITGSWLNEIL LEKKTKRNKI LKLKFPRTEE ERRMRTQSKR 840 RLEAKKEQRQ KNFVDLACEC SAVICCRVTP KQKAMVVDLV KRYKKAITLA IGDGANDVNM 900 IKTAHIGVGI SGQEGMQAVM SSDYSFAQFR YLQRLLLVHG RWSYIRMCKF LRYFFYKNFA 960 FTLVHFWYSF FNGYSAQTAY EDWFITLYNV LYTSLPVLLM GLLDQDVSDK LSLRFPGLYI 1020 VGQRDLLFNY KRFFVSLLHG VLTSMILFFI PLGAYLQTVG QDGEAPSDYQ SFAVTIASAL 1080 VITVNFQIGL DTSYWTFVNA FSIFGSIALY FGIMFDFHSA GIHVLFPSAF QFTGTASNAL 1140 RQPYIWLTII LAVAVCLLPV VAIRFLSMTI WPSESDKIQK HRKRLKAEEQ WQRRQQVFRR 1200 GVSTRRSAYA FSHQRGYADL ISSGRSIRKK RSPLDAIVAD GTAEYRRTGD S
1252Fasta Sequence
>O43520|ATP8B1|Homo sapiens(Human) MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVDRTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDRKRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISKLAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKRRLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASALVITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNALRQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRRGVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS
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Keyword |
KW-0067--ATP-binding KW-1003--Cell membrane KW-0966--Cell projection KW-0181--Complete proteome KW-0225--Disease mutation KW-0256--Endoplasmic reticulum KW-0333--Golgi apparatus KW-1009--Hearing KW-0378--Hydrolase KW-0988--Intrahepatic cholestasis KW-0445--Lipid transport KW-0460--Magnesium KW-0472--Membrane KW-0479--Metal-binding KW-0547--Nucleotide-binding KW-0597--Phosphoprotein KW-0621--Polymorphism KW-1185--Reference proteome KW-0812--Transmembrane KW-1133--Transmembrane helix KW-0813--Transport
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Interpro |
IPR030346--ATP8B1 IPR023299--ATPase_P-typ_cyto_domN IPR018303--ATPase_P-typ_P_site IPR008250--ATPase_P-typ_transduc_dom_A IPR023214--HAD-like_dom IPR006539--P-type_ATPase_IV IPR032631--P-type_ATPase_N IPR001757--P_typ_ATPase IPR032630--P_typ_ATPase_c
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PROSITE |
PS00154--ATPASE_E1_E2
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Pfam |
PF00122--E1-E2_ATPase PF16212--PhoLip_ATPase_C PF16209--PhoLip_ATPase_N
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Gene Ontology |
GO:0016324--C:apical plasma membrane GO:0031526--C:brush border membrane GO:0005783--C:endoplasmic reticulum GO:0005794--C:Golgi apparatus GO:0005887--C:integral component of plasma membrane GO:0005886--C:plasma membrane GO:0032420--C:stereocilium GO:0005524--F:ATP binding GO:1901612--F:cardiolipin binding GO:0000287--F:magnesium ion binding GO:0004012--F:phospholipid-translocating ATPase activity GO:0015721--P:bile acid and bile salt transport GO:0008206--P:bile acid metabolic process GO:0006855--P:drug transmembrane transport GO:0007030--P:Golgi organization GO:0060119--P:inner ear receptor cell development GO:0034220--P:ion transmembrane transport GO:0045892--P:negative regulation of transcription, DNA-templated GO:0045332--P:phospholipid translocation GO:0032534--P:regulation of microvillus assembly GO:0007605--P:sensory perception of sound GO:0055085--P:transmembrane transport GO:0021650--P:vestibulocochlear nerve formation
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