Gene/Proteome Database (LMPD)

LMPD ID
LMP000621
Gene ID
5205
Species
Homo sapiens (Human)
Gene Name
ATPase, aminophospholipid transporter, class I, type 8B, member 1
Gene Symbol
ATP8B1
Synonyms
ATPIC; BRIC; FIC1; ICP1; PFIC; PFIC1
Alternate Names
phospholipid-transporting ATPase IC; E1-E2 ATPase; ATPase, class I, type 8B, member 1; familial intrahepatic cholestasis type 1; probable phospholipid-transporting ATPase IC; P4-ATPase flippase complex alpha subunit ATP8B1
Chromosome
18
Map Location
18q21.31
EC Number
3.6.3.1
Summary
This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for ATP8B1

Proteins

phospholipid-transporting ATPase IC
Refseq ID NP_005594
Protein GI 5031697
UniProt ID O43520
mRNA ID NM_005603
Length 1251
RefSeq Status REVIEWED
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVDRTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDRKRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISKLAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKRRLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASALVITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNALRQPYIWLTIILTVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRRGVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS

Gene Information

Entrez Gene ID
5205
Gene Name
ATPase, aminophospholipid transporter, class I, type 8B, member 1
Gene Symbol
ATP8B1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IDA:UniProtKB C Golgi apparatus
GO:0016324 IDA:UniProtKB C apical plasma membrane
GO:0031526 IEA:Ensembl C brush border membrane
GO:0005783 IDA:UniProtKB C endoplasmic reticulum
GO:0005887 NAS:UniProtKB C integral component of plasma membrane
GO:0005886 IDA:UniProtKB C plasma membrane
GO:0032420 IEA:Ensembl C stereocilium
GO:0005524 IEA:UniProtKB-KW F ATP binding
GO:1901612 IEA:Ensembl F cardiolipin binding
GO:0019829 IEA:InterPro F cation-transporting ATPase activity
GO:0000287 IEA:InterPro F magnesium ion binding
GO:0004012 TAS:UniProtKB F phospholipid-translocating ATPase activity
GO:0015721 NAS:UniProtKB P bile acid and bile salt transport
GO:0008206 IEA:Ensembl P bile acid metabolic process
GO:0006855 IDA:UniProtKB P drug transmembrane transport
GO:0060119 IEA:Ensembl P inner ear receptor cell development
GO:0034220 TAS:Reactome P ion transmembrane transport
GO:0045892 IMP:UniProtKB P negative regulation of transcription, DNA-templated
GO:0045332 IDA:UniProtKB P phospholipid translocation
GO:0032534 IMP:UniProtKB P regulation of microvillus assembly
GO:0007605 IEA:UniProtKB-KW P sensory perception of sound
GO:0055085 TAS:Reactome P transmembrane transport
GO:0021650 IEA:Ensembl P vestibulocochlear nerve formation

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_25300 Ion channel transport
REACT_25149 Ion transport by P-type ATPases
REACT_15518 Transmembrane transport of small molecules

Domain Information

InterPro Annotations

Accession Description
IPR008250 ATPase_P-typ_transduc_dom_A
IPR001757 Cation_transp_P_typ_ATPase
IPR023214 HAD-like domain
IPR023299 P-type ATPase, cytoplasmic domain N
IPR018303 P-type ATPase, phosphorylation site
IPR006539 P-type ATPase, subfamily IV

UniProt Annotations

Entry Information

Gene Name
ATPase, aminophospholipid transporter, class I, type 8B, member 1
Protein Entry
AT8B1_HUMAN
UniProt ID
O43520
Species
Human

Comments

Comment Type Description
Catalytic Activity ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).
Disease Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM
Disease Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM
Disease Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM
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. {ECO
Interaction Q9NV96:TMEM30A; NbExp=3; IntAct=EBI-9524729, EBI-2836942;
Similarity Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
Subcellular Location Cell membrane; Multi-pass membrane protein. Apical cell membrane. Cell projection, stereocilium . Endoplasmic reticulum. Golgi apparatus. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B. Localizes to apical membranes in epithelial cells.
Subunit Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). The probable flippase ATP8B1:TMEM30A complex can form an intermediate phosphoenzyme in vitro. Also interacts with beta subunit TMEM30B. {ECO
Tissue Specificity Found in most tissues except brain and skeletal muscle. Most abundant in pancreas and small intestine.

Identical and Related Proteins

Unique RefSeq proteins for LMP000621 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
5031697 RefSeq NP_005594 1251 phospholipid-transporting ATPase IC

Identical Sequences to LMP000621 proteins

Reference Database Accession Length Protein Name
GI:5031697 GenBank AAC63461.1 1251 FIC1 [Homo sapiens]
GI:5031697 GenBank ABC16128.1 1251 Sequence 22 from patent US 6972187
GI:5031697 GenBank EAW63054.1 1251 ATPase, Class I, type 8B, member 1, isoform CRA_a [Homo sapiens]
GI:5031697 GenBank ACM82286.1 1251 Sequence 7784 from patent US 6812339
GI:5031697 GenBank AAI72221.1 1251 ATPase, class I, type 8B, member 1, partial [synthetic construct]
GI:5031697 GenBank AHD70330.1 1251 Sequence 3005 from patent US 8586006

Related Sequences to LMP000621 proteins

Reference Database Accession Length Protein Name
GI:5031697 GenBank JAA03156.1 1251 ATPase, aminophospholipid transporter, class I, type 8B, member 1 [Pan troglodytes]
GI:5031697 GenBank JAA44090.1 1251 ATPase, aminophospholipid transporter, class I, type 8B, member 1 [Pan troglodytes]
GI:5031697 RefSeq XP_003827298.1 1251 PREDICTED: phospholipid-transporting ATPase IC [Pan paniscus]
GI:5031697 RefSeq XP_004059514.1 1251 PREDICTED: probable phospholipid-transporting ATPase IC [Gorilla gorilla gorilla]
GI:5031697 RefSeq XP_006722544.1 1251 PREDICTED: probable phospholipid-transporting ATPase IC isoform X1 [Homo sapiens]
GI:5031697 SwissProt O43520.3 1251 RecName: Full=Phospholipid-transporting ATPase IC; AltName: Full=ATPase class I type 8B member 1; AltName: Full=Familial intrahepatic cholestasis type 1; AltName: Full=P4-ATPase flippase complex alpha subunit ATP8B1 [Homo sapiens]