ATP11B Gene
ATPase Phospholipid Transporting 11B
Gene Information Card
| Symbol | ATP11B |
|---|---|
| Full Name | ATPase phospholipid transporting 11B |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 23200 ncbi.nlm.nih.gov/gene/23200 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q9Y2G3 |
| OMIM ID | 606868 |
| HGNC ID | 13552 |
| Aliases | ATPIF, ATP11B variant |
Description
ATP11B encodes a member of the P4-ATPase family, which functions as a phospholipid flippase that translocates phospholipids from the exoplasmic to the cytoplasmic leaflet of cellular membranes. This activity is critical for maintaining membrane asymmetry and is involved in vesicle-mediated transport and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cholestasis, progressive familial intrahepatic 1 | Deficiency in ATP11B may impair bile acid transport; exact mechanism unclear | ClinVar |
| Cancer (various) | Altered expression or mutations may affect membrane dynamics and drug resistance | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 6.1 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| K562 | 5.2 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.001 | Unknown functional impact |
| c.2567A>G (p.Asn856Ser) | Missense | 0.0005 | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ATP11B are not well characterized; predicted to disrupt phospholipid flipping.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004012 (phospholipid-translocating ATPase activity) | • GO:0015914 (phospholipid transport) |
| • GO:0016020 (membrane) |
Pathways
• Phospholipid transport (Reactome: R-HSA-1483257)
Protein Summary
ATP11B is a 1159-amino acid transmembrane protein with ten predicted helices, belonging to the P4-ATPase subfamily. It uses ATP hydrolysis to flip phosphatidylserine and phosphatidylethanolamine across membranes, contributing to lipid asymmetry essential for endocytosis, exocytosis, and cell polarity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP11B Knockout HEK293 Cell Line | EDJ-KQ7884 | Human | 23200 | Details Get a Quote |
| ATP11B Knockout A-549 Cell Line | EDJ-KQ32144 | Human | 23200 | Details Get a Quote |
| ATP11B Knockout HCT 116 Cell Line | EDJ-KQ33476 | Human | 23200 | Details Get a Quote |
| ATP11B Knockout HeLa Cell Line | EDJ-KQ33477 | Human | 23200 | Details Get a Quote |
| ATP11B Knockout HEK293T Cell Line | EDC07530 | Human | 23200 | Details Get a Quote |
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