gene

SMN1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about SMN1: 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.

165Connections

0Hypotheses

0Analyses

50Outgoing

50Incoming

Summary

SMN1 is a gene implicated in neurodegeneration research. Key relationships include: associated with, regulates, therapeutic target. Associated with Als, Amyotrophic Lateral Sclerosis, Ataxia. Connected to 67 entities in the SciDEX knowledge graph.

View on Wiki →

🧬 Gene Info

Gene Symbol	SMN1
Full Name	Survival Motor Neuron 1
Chromosome	5q13.2
Function	is an important component in the neurobiology of neurodegenerative diseases.
Primary Expression	Motor neurons, Spinal cord, Widespread
Molecular Weight	38.0 kDa
Amino Acids	294 aa
Pathways	Dna Damage Response, autophagy pathway, oxidative stress response
UniProt ID	Q16637
NCBI Gene ID	6606
Ensembl ID	ENSG00000172062
OMIM	600354
GeneCards	SMN1
Human Protein Atlas	SMN1
Associated Diseases	ALS, Amyotrophic Lateral Sclerosis, Ataxia, Dementia, Frontotemporal Dementia
Known Drugs/Compounds	rapamycin
Interactions	SMN2, ALS4, ATG7, GABARAP, HUNTINGTIN, DNMT1
KG Connections	165 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: SMN1 — AlphaFold Q16637 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

SMN1 - Survival Motor Neuron 1

gene · 1364 words

→

AAV Gene Therapy for Neurodevelopmental Epilepsy — Competitive Landscape & Delivery Alternatives

therapeutic · 15567 words

→

Pathway Diagram

graph TD
    SMN1["SMN1"]
    SMN1 -->|"regulates"| Ms["Ms"]
    SMN1 -->|"regulates"| GENES["GENES"]
    SMN1 -->|"regulates"| NEURODEGENERATIVE_DISORDERS["NEURODEGENERATIVE DISORDERS"]
    SMN1 -->|"expressed in"| Fibroblast["Fibroblast"]
    SMN1 -->|"expressed in"| Neuron["Neuron"]
    SMN1 -->|"implicated in"| neurodegeneration["neurodegeneration"]
    GENES -->|"regulates"| SMN1
    NEURODEGENERATIVE_DISORDERS -->|"regulates"| SMN1

Outgoing (101)

Target	Relation	Type	Str
neurons	expressed_in	cell_type	0.80
heart	expressed_in	cell_type	0.70
ALS	causes	disease	0.70
Spinal Muscular Atrophy	associated_with	disease	0.65
Spinal Muscular Atrophy	causes	disease	0.65
Amyotrophic Lateral Sclerosis	associated_with	disease	0.65
Dementia	associated_with	disease	0.65
Als	associated_with	disease	0.65
Ataxia	associated_with	disease	0.65
Ms	regulates	disease	0.65
Frontotemporal Dementia	associated_with	disease	0.65
Ftd	associated_with	disease	0.65
Spinocerebellar Ataxia	associated_with	disease	0.65
Als	interacts_with	disease	0.65
Neurodegeneration	expressed_in	disease	0.65
ALS	interacts_with	disease	0.65
DNMT1	associated_with	gene	0.60
ULK1	associated_with	gene	0.60
P62	associated_with	gene	0.60
TFEB	associated_with	gene	0.60
ATG7	associated_with	gene	0.60
ALS4	associated_with	gene	0.60
HTT	associated_with	gene	0.60
BECN1	associated_with	gene	0.60
SETX	associated_with	gene	0.60
LC3	associated_with	gene	0.60
ACTB	associated_with	gene	0.60
SQSTM1	associated_with	gene	0.60
WIPI2	associated_with	gene	0.60
HUNTINGTIN	associated_with	gene	0.60
GABARAP	associated_with	gene	0.60
Mrna Processing	therapeutic_target	pathway	0.60
SQSTM1	activates	entity	0.60
TFEB	activates	entity	0.60
ULK1	activates	entity	0.60
WIPI2	activates	entity	0.60
SMN2	interacts_with	gene	0.60
ALDH1A2	expressed_in	gene	0.60
SMN	causes	gene	0.60
Rb	regulates	protein	0.60
Rb	interacts_with	protein	0.60
cerebellum	expressed_in	brain_region	0.60
Mtor	associated_with	pathway	0.60
Autophagy	associated_with	pathway	0.60
MAP1LC3	associated_with	gene	0.60
DNA	associated_with	gene	0.60
GENES	regulates	gene	0.60
MTORC1	associated_with	gene	0.60
NEURODEGENERATIVE DISORDERS	regulates	gene	0.60
NEURON	associated_with	gene	0.60

Incoming (64)

Source	Relation	Type	Str
CasRx	inhibits	protein	0.85
ACTB	associated_with	gene	0.60
GABARAP	associated_with	gene	0.60
ULK1	associated_with	gene	0.60
WIPI2	associated_with	gene	0.60
LC3	associated_with	gene	0.60
BECN1	associated_with	gene	0.60
HTT	associated_with	gene	0.60
ATG7	associated_with	gene	0.60
SETX	associated_with	gene	0.60
SQSTM1	associated_with	gene	0.60
ALS4	associated_with	gene	0.60
DNMT1	associated_with	gene	0.60
P62	associated_with	gene	0.60
SMN2	expressed_in	gene	0.60
ACTB	activates	entity	0.60
ALS4	activates	entity	0.60
ATG7	activates	entity	0.60
BECN1	activates	entity	0.60
DNMT1	activates	entity	0.60
GABARAP	activates	entity	0.60
HTT	activates	entity	0.60
HUNTINGTIN	activates	entity	0.60
P62	activates	entity	0.60
SETX	activates	entity	0.60
TFEB	associated_with	gene	0.60
HUNTINGTIN	associated_with	gene	0.60
SMN	causes	gene	0.60
ALDH1A2	expressed_in	gene	0.60
SMN2	interacts_with	gene	0.60
LC3	activates	gene	0.60
NEURON	associated_with	gene	0.60
AUTOPHAGY	associated_with	gene	0.60
ALS	associated_with	gene	0.60
MAP1LC3	associated_with	gene	0.60
DEMENTIA	associated_with	gene	0.60
MTORC1	associated_with	gene	0.60
DNA	associated_with	gene	0.60
GENES	regulates	gene	0.60
NEURODEGENERATIVE DISORDERS	regulates	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	0.60
AXON	therapeutic_target	gene	0.60
MOTOR NEURONS	therapeutic_target	gene	0.60
FTD	activates	entity	0.60
RNA	associated_with	gene	0.60
AND	associated_with	gene	0.60
GABA	associated_with	gene	0.60
NEURON	causes	gene	0.60
MOTOR NEURONS	interacts_with	gene	0.60
RNA	interacts_with	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
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 & PMID	Authors	Journal	Year	Citations
No papers found

SMN1

Understanding Entity Pages

Summary

Wiki Pages (21)

SMN1 - Survival Motor Neuron 1

AAV Gene Therapy for Neurodevelopmental Epilepsy — Competitive Landscape & Delivery Alternatives

Splice-Modulating Therapies for Neurodegeneration

Gemin-8 Protein

Neuroprotection Strategies in Neurodegeneration

Arbor Biotechnologies

Section 106: Gene Therapy Vectors in CBS/PSP

Gemin-6 Protein

DCPS - Decapping Enzyme

Spliceosome and Neurodegeneration

RNA Splicing Defects in Neurodegeneration

spinal-motoneurons-sma

Bulbar Palsy

GEMIN8 Gene

risdiplam

Gamma Motor Neurons

PRPF3 — Pre-mRNA Processing Factor 3

GEMIN5 Gene

U2AF1 — U2AF Auxiliary Factor 1