Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about ATL1: 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.
| Gene Symbol | ATL1 |
| Function | Atlastin-1 is a membrane-bound GTPase with essential functions in |
| GeneCards | ATL1 |
| Human Protein Atlas | ATL1 |
| Aspect | Details |
| Inheritance | Autosomal dominant |
| Prevalence | ~10% of autosomal dominant HSP |
| Mutations | Over 50 pathogenic variants identified |
| Age of Onset | Often childhood onset (youngest among HSPs) |
| Disease | Relationship |
| [Parkinson's Disease](/diseases/parkinsons-disease) | ATL1 expression altered in some PD models |
| Neurodevelopmental disorders | Rare reports of ATL1 involvement |
| Charcot-Marie-Tooth disease | Some phenotypic overlap |
| Strategy | Status |
| Gene therapy | Preclinical |
| Associated Diseases | ALS |
| KG Connections | 18 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
flowchart TD
N0["ATL1"]
N1["Als"]
N0 -->|"associated with"| N1
N2["ALS"]
N0 -->|"associated with"| N2
N3["PDHX"]
N0 -->|"associated with"| N3
N4["SLC16A2"]
N0 -->|"associated with"| N4
N5["GNAO1"]
N0 -->|"associated with"| N5
N6["SATB2"]
N0 -->|"associated with"| N6
N7["Rb"]
N0 -->|"associated with"| N7
N8["SPAST"]
N8 -->|"associated with"| N0
N9["COL4A1"]
N9 -->|"associated with"| N0
N6 -->|"associated with"| N0
N10["GENES"]
N10 -->|"associated with"| N0
N3 -->|"associated with"| N0
N5 -->|"associated with"| N0
N11["AND"]
N11 -->|"associated with"| N0
classDef gene fill:#1a3a2a,stroke:#4caf50,color:#e0e0e0
classDef protein fill:#1a2a3a,stroke:#4fc3f7,color:#e0e0e0
classDef disease fill:#3a1a1a,stroke:#ef5350,color:#e0e0e0
classDef pathway fill:#2a1a3a,stroke:#ce93d8,color:#e0e0e0
classDef mechanism fill:#2a2a1a,stroke:#ffd54f,color:#e0e0e0
class N1 disease
class N2 disease
class N3 gene
class N4 gene
class N5 gene
class N6 gene
class N7 protein
class N8 gene
class N9 gene
class N10 gene
class N11 gene| Target | Relation | Type | Str |
|---|---|---|---|
| Als | associated_with | disease | 0.65 |
| ALS | associated_with | disease | 0.65 |
| PDHX | associated_with | gene | 0.60 |
| SLC16A2 | associated_with | gene | 0.60 |
| GNAO1 | associated_with | gene | 0.60 |
| SATB2 | associated_with | gene | 0.60 |
| Rb | associated_with | protein | 0.60 |
| COL4A1 | associated_with | gene | 0.60 |
| POLR2A | associated_with | gene | 0.60 |
| SPAST | associated_with | gene | 0.50 |
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
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||