gene

ATL1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

18Connections
0Hypotheses
0Analyses
10Outgoing
8Incoming

Summary

ATL1

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🧬 Gene Info
Gene SymbolATL1
FunctionAtlastin-1 is a membrane-bound GTPase with essential functions in
GeneCardsATL1
Human Protein AtlasATL1
AspectDetails
InheritanceAutosomal dominant
Prevalence~10% of autosomal dominant HSP
MutationsOver 50 pathogenic variants identified
Age of OnsetOften childhood onset (youngest among HSPs)
DiseaseRelationship
[Parkinson's Disease](/diseases/parkinsons-disease)ATL1 expression altered in some PD models
Neurodevelopmental disordersRare reports of ATL1 involvement
Charcot-Marie-Tooth diseaseSome phenotypic overlap
StrategyStatus
Gene therapyPreclinical
Associated DiseasesALS
KG Connections18 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Wiki Pages (15)

Knowledge base pages for this entity

Canonical Page

ATL1

gene · 673 words

EPG5 Gene - Ectopic P-Granules 5 Autophagy Tutor

gene · 3160 words

PDHX Gene

gene · 3019 words

MFSD1

gene · 2978 words

hereditary-spastic-paraplegia

disease · 2618 words

Betz Cells in Hereditary Spastic Paraplegia

cell · 2327 words

Pathway Diagram

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

Outgoing (10)

TargetRelationTypeStr
Alsassociated_withdisease0.65
ALSassociated_withdisease0.65
PDHXassociated_withgene0.60
SLC16A2associated_withgene0.60
GNAO1associated_withgene0.60

Incoming (8)

SourceRelationTypeStr
SPASTassociated_withgene0.60
COL4A1associated_withgene0.60
SATB2associated_withgene0.60
PDHXassociated_withgene0.60
GNAO1associated_withgene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found