ATP10D: A P4-ATPase Phospholipid Flippase
Comprehensive gene information for ATP10D, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ATP10D |
|---|---|
| Full Name | ATPase phospholipid transporting 10D (putative) |
| Gene Type | protein-coding |
| Chromosomal Location | 4p12 |
| NCBI Gene ID | 57205 ncbi.nlm.nih.gov/gene/57205 |
| Ensembl ID | ENSG00000145287 |
| UniProt ID | Q9P241 |
| OMIM ID | 607223 |
| HGNC ID | 13553 |
| Aliases | ATPVD, KIAA1487 |
Description
ATP10D is a member of the P4-ATPase family, which are putative phospholipid flippases that translocate phospholipids from the exoplasmic to the cytoplasmic leaflet of cellular membranes. This gene is involved in lipid transport and may play a role in neurological function and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered phospholipid asymmetry affecting neuronal signaling | PMID: 23453885 |
| Intellectual disability | Disrupted lipid transport in neural development | PMID: 25439727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal cell line |
| HEK 293 | 4.5 | Embryonic kidney |
| HepG2 | 2.0 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2152C>T (p.Arg718Trp) | Missense | 0.001% | Reduced flippase activity |
| c.2870G>A (p.Arg957Gln) | Missense | 0.002% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg718Trp reduces ATPase activity and phospholipid transport.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • phospholipid-translocating ATPase activity (GO:0004012) | • phospholipid transport (GO:0015914) |
| • membrane (GO:0016020) |
Pathways
• Phospholipid transport (Reactome: R-HSA-1483206)
Protein Summary
ATP10D encodes a putative P4-ATPase that functions as a phospholipid flippase, maintaining membrane asymmetry. It is highly expressed in brain and testis, and mutations are associated with neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP10D Knockout HEK293 Cell Line | EDJ-KQ12486 | Human | 57205 | Details Get a Quote |
| ATP10D Knockout A-549 Cell Line | EDJ-KQ41444 | Human | 57205 | Details Get a Quote |
| ATP10D Knockout HCT 116 Cell Line | EDJ-KQ41445 | Human | 57205 | Details Get a Quote |
| ATP10D Knockout HeLa Cell Line | EDJ-KQ41446 | Human | 57205 | Details Get a Quote |
