ATP8B1 Gene

HGNC Family	ATPases
Name	ATPase, aminophospholipid transporter, class I, type 8B, member 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nATP8B1, also known as familial intrahepatic cholestasis 1 (FIC1), is a P4‐type ATPase that acts as an aminophospholipid flippase, moving phosphatidylserine and related lipids from the outer to the inner leaflet of cellular membranes. This lipid translocation is fundamental for establishing and maintaining membrane asymmetry, which in hepatocytes is critical for preserving the integrity of the canalicular membrane and for proper bile formation. Defects in this function underlie cholestatic disorders such as progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC)."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMechanistic studies have demonstrated that ATP8B1 requires association with the accessory proteins of the CDC50 family for proper trafficking from the endoplasmic reticulum to the plasma membrane, ensuring its localization at the canalicular surface. Once correctly localized, ATP8B1 not only mediates the inward flipping of specific phospholipids but also modulates key signaling pathways—for instance, by promoting farnesoid X receptor (FXR) phosphorylation and nuclear localization, which in turn enhances the expression of bile salt export proteins. Such coordinated regulation helps maintain bile acid homeostasis, and its disruption contributes to the pathogenesis of cholestatic liver disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its hepatic role, ATP8B1 is emerging as a multifunctional regulator in various tissues. In lung epithelia, for example, ATP8B1 functions as a cardiolipin importer and helps to regulate surfactant composition during pulmonary inflammation. In polarized epithelial cells of the intestine and other organs, its flippase activity is essential for the apical localization of other transporters, such as those involved in bile salt or chloride transport. High‐resolution structural studies, including cryo–electron microscopy, have shed light on the autoinhibited conformations of ATP8B1 and the regulatory mechanisms by which specific lipid substrates or pharmacological chaperones can relieve this inhibition, highlighting its dynamic regulation in maintaining membrane organization."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Matthew J Harris, Irwin M Arias "}, {"type": "b", "children": [{"type": "t", "text": "FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s1388-1981(03)00107-0"}], "href": "https://doi.org/10.1016/s1388-1981(03"}, {"type": "t", "text": "00107-0) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12880872"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12880872"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Frank Chen, M Ananthanarayanan, Sukru Emre, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gastroenterology (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1053/j.gastro.2003.12.013"}], "href": "https://doi.org/10.1053/j.gastro.2003.12.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14988830"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14988830"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Leo W J Klomp, Julie C Vargas, Saskia W C van Mil, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of mutations in ATP8B1 associated with hereditary cholestasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.20285"}], "href": "https://doi.org/10.1002/hep.20285"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15239083"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15239083"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "R Müllenbach, A Bennett, N Tetlow, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gut (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/gut.2004.058115"}], "href": "https://doi.org/10.1136/gut.2004.058115"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15888793"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15888793"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Coen C Paulusma, Dineke E Folmer, Kam S Ho-Mok, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.21950"}], "href": "https://doi.org/10.1002/hep.21950"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17948906"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17948906"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tamara Frankenberg, Tamir Miloh, Frank Y Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.22431"}], "href": "https://doi.org/10.1002/hep.22431"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18668687"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18668687"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Dineke E Folmer, Vincent A van der Mark, Kam S Ho-Mok, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.23158"}], "href": "https://doi.org/10.1002/hep.23158"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19731236"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19731236"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Nancy B Ray, Lakshmi Durairaj, Bill B Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.2213"}], "href": "https://doi.org/10.1038/nm.2213"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20852622"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20852622"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Vincent A van der Mark, D Rudi de Waart, Kam S Ho-Mok, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2014.09.003"}], "href": "https://doi.org/10.1016/j.bbadis.2014.09.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25239307"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25239307"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "T V Korneenko, N B Pestov, I A Okkelman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Bioorg Khim (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1134/s1068162015010070"}], "href": "https://doi.org/10.1134/s1068162015010070"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26050466"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26050466"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Thibaud Dieudonné, Sara Abad Herrera, Michelle Juknaviciute Laursen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.75272"}], "href": "https://doi.org/10.7554/eLife.75272"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35416773"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35416773"}]}]}]}
Synonyms	PFIC1, ICP1, ATPIC, BRIC, PFIC, FIC1
Proteins	AT8B1_HUMAN
NCBI Gene ID	5205
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ATP8B1 has 10,886 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 132 datasets.

Click the + buttons to view associations for ATP8B1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ATP8B1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by ATP8B1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ATP8B1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ATP8B1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ATP8B1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ATP8B1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ATP8B1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ATP8B1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ATP8B1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ATP8B1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ATP8B1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ATP8B1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ATP8B1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ATP8B1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with ATP8B1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ATP8B1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ATP8B1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ATP8B1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ATP8B1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ATP8B1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ATP8B1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ATP8B1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ATP8B1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ATP8B1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ATP8B1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ATP8B1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ATP8B1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ATP8B1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ATP8B1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ATP8B1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ATP8B1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ATP8B1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ATP8B1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ATP8B1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ATP8B1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ATP8B1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ATP8B1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ATP8B1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ATP8B1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ATP8B1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ATP8B1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.