SNCAIP: Synphilin-1 and Parkinson's Disease Genetics
Comprehensive genomic and proteomic overview of SNCAIP, a gene implicated in Parkinson's disease and synucleinopathies.
Gene Information Card
| Symbol | SNCAIP |
|---|---|
| Full Name | Synuclein Alpha Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.2 |
| NCBI Gene ID | 6627 ncbi.nlm.nih.gov/gene/6627 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q9Y6H5 |
| OMIM ID | 603779 |
| HGNC ID | 11139 |
| Aliases | SYPH1, PARK11, synphilin-1 |
Description
SNCAIP (synuclein alpha interacting protein) encodes synphilin-1, a protein that interacts with alpha-synuclein (SNCA) and is involved in the formation of Lewy bodies, a hallmark of Parkinson's disease. The gene is located on chromosome 5q23.2 and is expressed in brain tissues. Variants in SNCAIP have been associated with sporadic and familial Parkinson's disease, and the protein plays a role in protein aggregation and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | Altered interaction with alpha-synuclein promotes aggregation and Lewy body formation | OMIM 603779; NCBI Gene 6627 |
| Dementia with Lewy bodies | Synphilin-1 co-localizes with alpha-synuclein in Lewy bodies, contributing to pathology | UniProt Q9Y6H5; literature review |
| Multiple system atrophy | Synphilin-1 expression in glial cytoplasmic inclusions | UniProt Q9Y6H5; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Heart | 4.1 | Low |
| Liver | 2.3 | Low |
| Kidney | 3.8 | Low |
| Lung | 1.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.5 | Neuroblastoma cell line; high expression |
| HEK293 | 8.7 | Embryonic kidney; moderate expression |
| U-87 MG | 6.3 | Glioblastoma; moderate expression |
| HepG2 | 2.1 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.136G>A (p.Gly46Arg) | Missense | Rare | Alters synphilin-1 interaction with alpha-synuclein; associated with Parkinson's disease risk |
| c.601C>T (p.Arg201Trp) | Missense | Rare | Reported in familial Parkinson's disease; functional impact unknown |
| c.1072C>T (p.Arg358Cys) | Missense | Rare | May affect protein stability; limited evidence |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may impair synphilin-1's ability to bind alpha-synuclein or promote aggregation.
Gain of Function (GOF)
Potential gain-of-function through enhanced aggregation or altered protein interactions, but evidence is limited.
Dominant Negative (DN)
No clear dominant-negative mechanism described for SNCAIP mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alpha-synuclein aggregation pathway
• Parkinson's disease pathway (KEGG: hsa05012)
• Ubiquitin-proteasome system
Protein Summary
Synphilin-1 is a 919-amino acid protein that interacts with alpha-synuclein and is a component of Lewy bodies. It contains ankyrin repeats and a coiled-coil domain, mediating protein-protein interactions. Synphilin-1 is involved in protein aggregation, ubiquitination, and cellular stress responses. It is expressed predominantly in brain tissues and is implicated in Parkinson's disease and other synucleinopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNCAIP Knockout HEK293 Cell Line | EDJ-KQ6664 | Human | 9627 | Details Get a Quote |
| SNCAIP Knockout HeLa Cell Line | EDJ-KQ30968 | Human | 9627 | Details Get a Quote |
| SNCAIP Knockout A-549 Cell Line | EDJ-KQ63693 | Human | 9627 | Details Get a Quote |
| SNCAIP Knockout HCT 116 Cell Line | EDJ-KQ72155 | Human | 9627 | Details Get a Quote |
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