ATP8B3
ATPase Phospholipid Transporting 8B3
Gene Information Card
| Symbol | ATP8B3 |
|---|---|
| Full Name | ATPase Phospholipid Transporting 8B3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 148229 ncbi.nlm.nih.gov/gene/148229 |
| Ensembl ID | ENSG00000130270 |
| UniProt ID | O60423 |
| OMIM ID | 605233 |
| HGNC ID | 13534 |
| Aliases | ATPID, P4-ATPase, ATP8B3 |
Description
ATP8B3 encodes a member of the P4-ATPase family, which functions as a phospholipid flippase that translocates phosphatidylserine and phosphatidylethanolamine from the exoplasmic to the cytoplasmic leaflet of cellular membranes. This protein is predominantly expressed in testis and is essential for spermatogenesis, particularly for acrosome biogenesis and sperm maturation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Defective phospholipid flipping disrupts acrosome formation and sperm head morphology | OMIM 605233; mouse knockout models show impaired fertility |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.6 | Low |
| Skin | 0.4 | Low |
| Brain | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sertoli cells | 15.2 | High expression in testicular somatic cells |
| Spermatocytes | 8.9 | Moderate expression during meiosis |
| HEK293 | 0.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% (rare) | Premature stop; loss of flippase activity |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Truncated protein; predicted loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Reduced phospholipid transport; associated with infertility |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) lead to truncated, non-functional protein; missense p.Tyr297Cys impairs flippase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for ATP8B3.
View complete mutation data：
Gene Ontology (GO)
| • phospholipid-translocating ATPase activity (GO:0004012) | • plasma membrane (GO:0005886) |
| • phospholipid transport (GO:0015914) | • spermatogenesis (GO:0007283) |
| • acrosome biogenesis (GO:0035098) |
Pathways
• Phospholipid translocation (P4-ATPase flippase pathway)
• Spermatogenesis (acrosome formation)
Protein Summary
ATP8B3 is a 1251-amino acid P4-ATPase that catalyzes ATP-dependent flipping of phosphatidylserine and phosphatidylethanolamine across membranes. It localizes to the Golgi and plasma membrane in testicular cells and is critical for acrosome biogenesis. Loss-of-function mutations cause male infertility due to defective sperm head morphology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP8B3 Knockout HEK293 Cell Line | EDJ-KQ10734 | Human | 148229 | Details Get a Quote |
| ATP8B3 Knockout HeLa Cell Line | EDJ-KQ37015 | Human | 148229 | Details Get a Quote |
| ATP8B3 Knockout A-549 Cell Line | EDJ-KQ38312 | Human | 148229 | Details Get a Quote |
| ATP8B3 Knockout HCT 116 Cell Line | EDJ-KQ38313 | Human | 148229 | Details Get a Quote |
