ATP8B1
ATPase Phospholipid Transporting 8B1
Gene Information Card
| Symbol | ATP8B1 |
|---|---|
| Full Name | ATPase phospholipid transporting 8B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.31 |
| NCBI Gene ID | 5205 ncbi.nlm.nih.gov/gene/5205 |
| Ensembl ID | ENSG00000081913 |
| UniProt ID | O43520 |
| OMIM ID | 602397 |
| HGNC ID | 13514 |
| Aliases | FIC1, PFIC1, ATPIC, BRIC, ICP1 |
Description
ATP8B1 encodes a P-type ATPase that functions as a phospholipid flippase, translocating phosphatidylserine from the outer to the inner leaflet of the plasma membrane. This activity is essential for maintaining membrane asymmetry and bile salt homeostasis in hepatocytes. Mutations in ATP8B1 cause progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis (BRIC).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive familial intrahepatic cholestasis type 1 (PFIC1) | Loss of flippase activity leads to impaired bile salt export and cholestasis | ClinVar, OMIM |
| Benign recurrent intrahepatic cholestasis (BRIC) | Partial loss of function causes intermittent cholestasis | ClinVar, OMIM |
| Intrahepatic cholestasis of pregnancy (ICP1) | Heterozygous variants predispose to pregnancy-induced cholestasis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Small intestine | 8.7 | Medium |
| Pancreas | 5.2 | Low |
| Kidney | 4.1 | Low |
| Stomach | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma line |
| Caco-2 | 7.9 | Colorectal adenocarcinoma |
| HEK293 | 2.1 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.923G>T (p.Gly308Val) | Missense | Reported in PFIC1 | Loss of flippase activity |
| c.1660G>A (p.Gly554Arg) | Missense | Reported in BRIC | Partial loss of function |
| c.2087_2088del (p.Leu696fs) | Frameshift | Rare | Complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PFIC1-associated mutations result in complete or severe loss of phospholipid flippase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for ATP8B1.
View complete mutation data：
Gene Ontology (GO)
| • Phospholipid translocation | • ATPase activity |
| • Bile acid metabolic process | • Membrane lipid asymmetry |
Pathways
• Bile secretion (KEGG hsa04976)
• Phospholipid transport
Protein Summary
ATP8B1 is a 1251-amino acid P4-ATPase that forms a heterodimer with CDC50A to catalyze ATP-dependent flipping of phosphatidylserine across membranes. It is predominantly expressed in the canalicular membrane of hepatocytes and in intestinal epithelial cells, where it maintains membrane lipid asymmetry critical for bile salt export and protection against bile acid toxicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP8B1 Knockout HEK293 Cell Line | EDJ-KQ3336 | Human | 5205 | Details Get a Quote |
| ATP8B1 Knockout HCT 116 Cell Line | EDJ-KQ24975 | Human | 5205 | Details Get a Quote |
| ATP8B1 Knockout HeLa Cell Line | EDJ-KQ24976 | Human | 5205 | Details Get a Quote |
| ATP8B1 Knockout A-549 Cell Line | EDJ-KQ23582 | Human | 5205 | Details Get a Quote |
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