• Gene id: 5205

Gene Summary

• Gene Symbol: ATP8B1   Gene   UCSC   Ensembl
• Aliases: ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1
• Gene name: ATPase phospholipid transporting 8B1
• Alternate names: phospholipid-transporting ATPase IC, ATPase, aminophospholipid transporter, class I, type 8B, member 1, ATPase, class I, type 8B, member 1, E1-E2 ATPase, P4-ATPase flippase complex alpha subunit ATP8B1, familial intrahepatic cholestasis type 1, probable phospho,
• Gene location: 18q21.31 (57803821: 57646425)     Exons: 28     NC_000018.10
• Gene summary(Entrez): 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 o
• OMIM: 617693

Protein Summary

• Protein general information: O43520  
  • Name: Phospholipid transporting ATPase IC (EC 7.6.2.1) (ATPase class I type 8B member 1) (Familial intrahepatic cholestasis type 1) (P4 ATPase flippase complex alpha subunit ATP8B1)
  • Length: 1251  
  • Mass: 143695
  • Tissue specificity: Found in most tissues except brain and skeletal muscle. Most abundant in pancreas and small intestine.
• Sequence:

  MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHE
  QPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLV
  VLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCY
  VETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVI
  RNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEAQVGNSSWYLYD
  GEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFINWDLQMYYAEKDTPAKARTTTLNEQLGQIHY
  IFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVR
  QFFFLLAVCHTVMVDRTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDR
  KRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMA
  ASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISKLAKADIKIWVLTGDKKETAENIGFACELLT
  EDTTICYGEDINSLLHARMENQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKF
  PRTEEERRMRTQSKRRLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNM
  IKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYS
  AQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFI
  PLGAYLQTVGQDGEAPSDYQSFAVTIASALVITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVL
  FPSAFQFTGTASNALRQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRR
  GVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS

• Structural information:
  • Interpro: IPR030346  IPR023299  IPR018303  IPR023298  IPR008250   IPR036412  IPR006539  IPR032631  IPR001757  IPR032630  
  • Prosite: PS00154
  • STRING: ENSP00000445359
• Other Databases: GeneCards:  ATP8B1  Malacards:  ATP8B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007030	Golgi organization	IBA	biological process
GO:0045332	phospholipid translocation	IBA	biological process
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IBA	molecular function
GO:0006855	drug transmembrane transport	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0045332	phospholipid translocation	IDA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0032534	regulation of microvillus assembly	IMP	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0015914	phospholipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901612	cardiolipin binding	IEA	molecular function
GO:0021650	vestibulocochlear nerve formation	IEA	biological process
GO:0015917	aminophospholipid transport	IEA	biological process
GO:0015247	aminophospholipid flippase activity	IEA	molecular function
GO:0005319	lipid transporter activity	IEA	molecular function
GO:0031526	brush border membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0060119	inner ear receptor cell development	IEA	biological process
GO:0032420	stereocilium	IEA	cellular component
GO:0008206	bile acid metabolic process	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0140331	aminophospholipid translocation	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0045332	phospholipid translocation	NAS	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	TAS	molecular function
GO:0015721	bile acid and bile salt transport	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process

Diseases

Associated diseases	References
Progressive familial intrahepatic cholestasis	KEGG:H00624
Intrahepatic cholestasis of pregnancy	KEGG:H02193
Benign recurrent intrahepatic cholestasis	KEGG:H02192
Progressive familial intrahepatic cholestasis	KEGG:H00624
Intrahepatic cholestasis of pregnancy	KEGG:H02193
Benign recurrent intrahepatic cholestasis	KEGG:H02192
benign recurrent intrahepatic cholestasis 1	PMID:9918928
Intrahepatic cholestasis	PMID:9500542
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq