dbPAF Protein Information


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.
Phosphorylation Sites
dbPAF PTMs: 20
PositionPeptidesSourceReferences ( PMIDs )
38DELDDQGSAVEPEQNPhosphoSitePlus22135298
440PAKARTTTLNEQLGQPhosphoSitePlus22135298
476CCINGQIYGDHRDASPhosphoSitePlus22135298
658LRTLCLCYKEIEEKEPhosphoSitePlus22135298
667EIEEKEFTEWNKKFMPhosphoSitePlus22135298
779QRNRGGVYAKFAPPVPhosphoSitePlus22135298
789FAPPVQESFFPPGGNPhosphoSitePlus22135298
924QAVMSSDYSFAQFRYPhosphoSitePlus22135298
925AVMSSDYSFAQFRYLPhosphoSitePlus22135298
931YSFAQFRYLQRLLLVcurated26074081
992ITLYNVLYTSLPVLLPhosphoSitePlus22135298
1203QVFRRGVSTRRSAYAPhosphoSitePlus22135298
1204VFRRGVSTRRSAYAFPhosphoSitePlus22135298
1207RGVSTRRSAYAFSHQPhosphoSitePlus;curated22135298; 25849741
1209VSTRRSAYAFSHQRGPhosphoSitePlus;curated22135298; 23911959
1217AFSHQRGYADLISSGdbPTM 3.0;PhosphoSitePlus;curated19534553; 16381945; 23193290; 22135298; 22817900
1222RGYADLISSGRSIRKcurated25849741
1223GYADLISSGRSIRKKcurated22199227
1242DAIVADGTAEYRRTGPhosphoSitePlus22135298
1245VADGTAEYRRTGDS-PhosphoSitePlus22135298
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 1252
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

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

PROSITE

PS00154--ATPASE_E1_E2

Pfam

PF00122--E1-E2_ATPase
PF16212--PhoLip_ATPase_C
PF16209--PhoLip_ATPase_N

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