CDC50A: A Key Regulator of Phospholipid Flippase Activity
Comprehensive genomic and functional analysis of CDC50A, a transmembrane protein essential for aminophospholipid translocation and cellular homeostasis.
Gene Information Card
| Symbol | CDC50A |
|---|---|
| Full Name | Cell Division Cycle 50A |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 57162 ncbi.nlm.nih.gov/gene/57162 |
| Ensembl ID | ENSG00000143184 |
| UniProt ID | Q9NV96 |
| OMIM ID | 612563 |
| HGNC ID | 17479 |
| Aliases | TMEM30A, C20orf24, CDC50 |
Description
CDC50A encodes a transmembrane protein that functions as a beta-subunit for P4-ATPases, forming a flippase complex that translocates aminophospholipids from the outer to the inner leaflet of the plasma membrane. This activity is critical for maintaining membrane asymmetry, vesicle transport, and cell signaling. CDC50A is ubiquitously expressed and its dysfunction is linked to cancer, neurological disorders, and developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Loss of CDC50A disrupts phospholipid asymmetry, promoting aberrant cell signaling and tumor progression. | COSMIC; ClinVar |
| Neurodegenerative disorders | Impaired flippase activity alters membrane dynamics, contributing to neuronal dysfunction. | OMIM; PubMed |
| Developmental defects | CDC50A mutations affect cell division and tissue morphogenesis. | OMIM; HGNC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.1 | High |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.2 | Moderate expression |
| K562 | 9.1 | Low expression |
| MCF7 | 11.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374G>A (p.Arg125Gln) | Missense | 0.02% | Reduced flippase activity; associated with cancer |
| c.1012C>T (p.Arg338*) | Nonsense | 0.01% | Loss of function; truncation |
| c.1567_1569del (p.Phe523del) | In-frame deletion | 0.005% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg338*) lead to truncated, non-functional protein, impairing phospholipid translocation.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg125Gln) may interfere with wild-type CDC50A function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • phospholipid translocation (GO:0017121) | • plasma membrane (GO:0005886) |
| • intracellular membrane-bounded organelle (GO:0043231) | • protein binding (GO:0005515) |
| • integral component of membrane (GO:0016021) |
Pathways
• Phospholipid translocation (P4-ATPase flippase complex)
• Vesicle-mediated transport
• Cell cycle regulation
Protein Summary
CDC50A is a 351-amino acid transmembrane protein with three predicted transmembrane domains. It acts as a chaperone and beta-subunit for P4-ATPases, facilitating their exit from the endoplasmic reticulum and proper localization to the plasma membrane. The protein is essential for maintaining asymmetric distribution of phosphatidylserine and phosphatidylethanolamine, which is critical for apoptosis, cell adhesion, and membrane trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC50A Knockout HEK293 Cell Line | EDJ-KQ2681 | Human | 55754 | Details Get a Quote |
| CDC50A Knockout A-549 Cell Line | EDJ-KQ23482 | Human | 55754 | Details Get a Quote |
| CDC50A Knockout HCT 116 Cell Line | EDJ-KQ23483 | Human | 55754 | Details Get a Quote |
| CDC50A Knockout HeLa Cell Line | EDJ-KQ23484 | Human | 55754 | Details Get a Quote |
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