Entity Details

Primary name ATP8B1
Entity type gene
Source Source Link

Details

PrimaryID5205
RefseqGeneNG_007148
SymbolATP8B1
NameATPase phospholipid transporting 8B1
Chromosome18
Location18q21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-11-03
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsAT8B1_HUMAN

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006855 drug transmembrane transport
GO:0007030 Golgi organization
GO:0007605 sensory perception of sound
GO:0008206 bile acid metabolic process
GO:0015721 bile acid and bile salt transport
GO:0016324 apical plasma membrane
GO:0016604 nuclear body
GO:0021650 vestibulocochlear nerve formation
GO:0031526 brush border membrane
GO:0032420 stereocilium
GO:0032534 regulation of microvillus assembly
GO:0034220 ion transmembrane transport
GO:0045176 apical protein localization
GO:0045332 phospholipid translocation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0060119 inner ear receptor cell development
GO:0140326 ATPase-coupled intramembrane lipid transporter activity
GO:0140345 phosphatidylcholine flippase activity
GO:0140346 phosphatidylserine flippase activity
GO:1901612 cardiolipin binding
GO:1903729 regulation of plasma membrane organization
GO:1990531 phospholipid-translocating ATPase complex
GO:2001225 regulation of chloride transport

Diseases

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Disease IDSourceNameDescription
211600 OMIMCholestasis, progressive familial intrahepatic, 1 (PFIC1)A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. The disease is caused by variants affecting the gene represented in this entry.
243300 OMIMCholestasis, benign recurrent intrahepatic, 1 (BRIC1)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. The disease is caused by variants affecting the gene represented in this entry.
147480 OMIMCholestasis of pregnancy, intrahepatic 1 (ICP1)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. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
ATP8B1TMEM30ABioGRID, IntAct, UniProt19731236 20947505 20961850 21914794 25947375 details
ATP8B1TMEM30BBioGRID, IntAct, UniProt20947505 20961850 21914794 details
ATP8B1HNRNPLBioGRID28611215 details
ATP8B1VIRMABioGRID29507755 details