ATP8B1

ATP8B1
Identifiers
Aliases	ATP8B1, ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1, ATPase phospholipid transporting 8B1
External IDs	MGI: 1859665 HomoloGene: 21151 GeneCards: ATP8B1
Genetically Related Diseases
vitiligo, attention deficit hyperactivity disorder, conduct disorder
Gene ontology Molecular function • nucleotide binding • cardiolipin binding • lipid transporter activity • metal ion binding • protein binding • phospholipid-translocating ATPase activity • hydrolase activity • ATP binding • magnesium ion binding Cellular component • integral component of membrane • Golgi apparatus • cell projection • membrane • plasma membrane • integral component of plasma membrane • stereocilium • brush border membrane • apical plasma membrane • endoplasmic reticulum Biological process • regulation of microvillus assembly • lipid transport • Golgi organization • drug transmembrane transport • bile acid metabolic process • phospholipid transport • sensory perception of sound • ion transmembrane transport • inner ear receptor cell development • phospholipid translocation • bile acid and bile salt transport • transport • vestibulocochlear nerve formation • negative regulation of transcription, DNA-templated Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5205	54670
Ensembl	ENSG00000081923	ENSMUSG00000039529
UniProt	O43520	Q148W0
RefSeq (mRNA)	NM_005603	NM_001001488
RefSeq (protein)	NP_005594	NP_001001488.2 NP_001001488
Location (UCSC)	Chr 18: 57.65 – 57.8 Mb	Chr 18: 64.53 – 64.66 Mb
PubMed search

5205

54670

ENSG00000081923

ENSMUSG00000039529

O43520

Q148W0

NM_005603

NM_001001488

NP_005594

NP_001001488.2
NP_001001488

Probable phospholipid-transporting ATPase IC is an enzyme that in humans is encoded by the ATP8B1 gene. This protein is associated with progressive familial intrahepatic cholestasis type 1 as well as benign recurrent intrahepatic cholestasis.

This gene encodes a member of the P-type cation transport ATPase family and specifically belongs to the subfamily of aminophospholipid-transporting ATPases. This protein is highly expressed in the small intestine, stomach, pancreas, and prostate and is also found in cholangiocytes and the canalicular membranes of in the liver. 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. Exactly how mutations result in these diseases is not currently understood.

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