Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about SERPINA1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
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| Gene Symbol | Serpin Family A Member 1 (Alpha-1 Antitrypsin) |
| Chromosome | 14q32.13 |
| Function | is a 52 kDa glycoprotein synthesized primarily in the liver, with extrahepatic expression in astrocytes, microglia, and macrophages throughout the body. |
| Molecular Weight | 52 kDa |
| Amino Acids | 418 aa |
| UniProt ID | P01009 |
| NCBI Gene ID | 5265 |
| Ensembl ID | ENSG00000197249 |
| OMIM | 107400 |
| Alpha-Synuclein Interaction | A1AT binds to alpha-synuclein and inhibits its aggregation in vitro. This suggests a potential protective role in Lewy body formation. |
| Microglial Activation | PD patients show elevated CSF A1AT levels, correlating with disease severity. The protein appears to modulate microglial activation in response to alpha-synuclein pathology. [@marchi2021] |
| Neuroprotection | Exogenous A1AT administration protects dopaminergic neurons in toxin-based PD models, supporting a neuroprotective role. |
| Genetic Studies | Multiple studies have identified SERPINA1 polymorphisms as modifiers of ALS age of onset and survival. The PiZ allele shows protective effects in some populations. [@galli2022] |
| Neuroinflammation | A1AT's anti-inflammatory properties are relevant to the prominent neuroinflammation observed in ALS. The protein reduces motor neuron toxicity from activated microglia. |
| Associated Diseases | Alpha-1 Antitrypsin Deficiency |
| KG Connections | 8 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
flowchart TD
SERPINA1(["SERPINA1"])
Cirrhosis["Cirrhosis"]
Fibrosis["Fibrosis"]
Type_2_Diabetes["Type 2 Diabetes"]
Diabetes["Diabetes"]
DIABETES_MELLITUS(["DIABETES MELLITUS"])
neurodegeneration["neurodegeneration"]
SERPINA1 -->|"regulates"| Cirrhosis
SERPINA1 -->|"regulates"| Fibrosis
SERPINA1 -->|"regulates"| Type_2_Diabetes
SERPINA1 -->|"regulates"| Diabetes
SERPINA1 -->|"regulates"| DIABETES_MELLITUS
SERPINA1 -->|"implicated in"| neurodegeneration
style SERPINA1 fill:#1a237e,stroke:#4fc3f7,stroke-width:3px,color:#fff| Target | Relation | Type | Str |
|---|---|---|---|
| Alpha-1 Antitrypsin Deficiency | causes | disease | 0.90 |
| alanine transaminase | regulates | phenotype | 0.85 |
| Cirrhosis | regulates | disease | 0.65 |
| Fibrosis | regulates | disease | 0.65 |
| Type 2 Diabetes | regulates | disease | 0.65 |
| Diabetes | regulates | disease | 0.65 |
| DIABETES MELLITUS | regulates | gene | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| rs28929474 | associated_with | compound | 0.90 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||
Multi-agent debates referencing this entity
No debates reference this entity
Hypotheses and analyses mentioning SERPINA1 in their description or question text
No additional research found