PDCD6IP (Programmed Cell Death 6 Interacting Protein)
Key regulator of exosome biogenesis, endosomal sorting, and apoptosis; implicated in cancer and neurodegenerative diseases.
Gene Information Card
| Symbol | PDCD6IP |
|---|---|
| Full Name | Programmed Cell Death 6 Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.3 |
| NCBI Gene ID | 10015 ncbi.nlm.nih.gov/gene/10015 |
| Ensembl ID | ENSG00000100147 |
| UniProt ID | Q9WU78 |
| OMIM ID | 608074 |
| HGNC ID | 8766 |
| Aliases | ALIX, AIP1, DRIP4, HP95, MGC17003 |
Description
PDCD6IP (also known as ALIX) encodes a protein that functions in endosomal sorting, exosome biogenesis, and apoptosis. It interacts with PDCD6 and components of the ESCRT machinery to facilitate membrane remodeling and vesicle formation. The protein is involved in multivesicular body (MVB) formation, cytokinesis, and viral budding. Dysregulation of PDCD6IP is linked to cancer progression, neurodegenerative disorders, and viral infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered exosome secretion and cell signaling; overexpression in breast, lung, and colorectal cancers | PMID: 23431136, PMID: 25636800 |
| Alzheimer's disease | Impaired endosomal trafficking and amyloid precursor protein processing | PMID: 27477018 |
| HIV-1 infection | Facilitates viral budding by recruiting ESCRT machinery | PMID: 12867029 |
| Neurodegeneration (general) | Dysregulation of exosome-mediated clearance of toxic proteins | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Breast | 10.5 | Medium |
| Colon | 9.3 | Low |
| Liver | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | High expression |
| HEK293 | 16.1 | High expression |
| MCF7 | 14.7 | Medium expression |
| A549 | 13.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Altered protein interaction with ESCRT components |
| c.567_569del (p.Lys189del) | In-frame deletion | Rare | Impaired exosome secretion |
| c.2101C>T (p.Arg701Trp) | Missense | <0.1% | Potential loss of function in apoptosis regulation |
Mutation functional classification
Loss of Function (LOF)
Reduced exosome biogenesis and altered endosomal sorting; observed in some cancer cell lines.
Gain of Function (GOF)
Not well characterized; overexpression may enhance exosome release and tumor progression.
Dominant Negative (DN)
Truncated variants may interfere with ESCRT complex assembly, disrupting membrane remodeling.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • endosomal transport |
| • exosome biogenesis | • apoptotic process |
| • viral budding | • cytokinesis |
| • multivesicular body assembly |
Pathways
• ESCRT pathway
• Exosome biogenesis and secretion
• Apoptosis signaling
• HIV budding
Protein Summary
PDCD6IP (ALIX) is a 868-amino acid protein containing an N-terminal Bro1 domain, a central V-shaped domain, and a C-terminal proline-rich region. It binds to ESCRT-III components (e.g., CHMP4) and PDCD6, facilitating membrane scission during exosome formation and apoptosis. The protein is ubiquitously expressed and localizes to endosomes, plasma membrane, and midbody. Post-translational modifications include phosphorylation and ubiquitination, regulating its stability and interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDCD6IP Knockout HEK293 Cell Line | EDJ-KQ2146 | Human | 10015 | Details Get a Quote |
| PDCD6IP Knockout HCT 116 Cell Line | EDJ-KQ22324 | Human | 10015 | Details Get a Quote |
| PDCD6IP Knockout HeLa Cell Line | EDJ-KQ22325 | Human | 10015 | Details Get a Quote |
| PDCD6IP Knockout A-549 Cell Line | EDJ-KQ63781 | Human | 10015 | Details Get a Quote |
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