Entity Details

Primary name AT8B1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43520
EntryNameAT8B1_HUMAN
FullNamePhospholipid-transporting ATPase IC
TaxID9606
Evidenceevidence at protein level
Length1251
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesATP8B1

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

Subcellular Location

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Subcellular Location
Apical cell membrane
Cell membrane
Cell projection
Endoplasmic reticulum
Golgi apparatus

Domains

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DomainNameCategoryType
IPR001757 P-type ATPaseFamilyFamily
IPR006539 P-type ATPase, subfamily IVFamilyFamily
IPR008250 P-type ATPase, A domain superfamilyFamilyHomologous superfamily
IPR018303 P-type ATPase, phosphorylation sitePTMPTM
IPR023298 P-type ATPase, transmembrane domain superfamilyFamilyHomologous superfamily
IPR023299 P-type ATPase, cytoplasmic domain NFamilyHomologous superfamily
IPR030346 Phospholipid-transporting ATPase ICFamilyFamily
IPR032630 P-type ATPase, C-terminalDomainDomain
IPR032631 P-type ATPase, N-terminalDomainDomain
IPR036412 HAD-like superfamilyFamilyHomologous superfamily
IPR044492 P-type ATPase, haloacid dehalogenase domainDomainDomain

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

2 interactions

InteractorPartnerSourcesPublicationsLink
AT8B1_HUMANCC50A_HUMANBioGRID, IntAct, UniProt19731236 20947505 20961850 21914794 25947375 details
AT8B1_HUMANCC50B_HUMANBioGRID, IntAct, UniProt20947505 20961850 21914794 details