gene

FMR1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about FMR1: 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.

589Connections

0Hypotheses

0Analyses

50Outgoing

50Incoming

Summary

Gene profile: FMR1 — Fragile X Messenger Ribonucleoprotein 1

View on Wiki →

🧬 Gene Info

Gene Symbol	FMR1
Full Name	Fragile X Messenger Ribonucleoprotein 1
Chromosome	Xq27.3
Primary Expression	brain tissue, particularly in neurons of the cerebral cortex, hippocampus, cerebellum, and amygdala
Molecular Weight	71 kDa
Amino Acids	632 aa
Pathways	Er Stress
UniProt ID	[Q06787](https://www.uniprot.org/uniprot/Q06787)
Ensembl ID	ENSG00000102081
GeneCards	FMR1
Human Protein Atlas	FMR1
Human cohort	500 FMR1 premutation carriers (200 with FXTAS, 300 asymptomatic), ages 50-80
Validation cohort	Independent cohort of 200 carriers from different geographic regions
iPSC validation	Neurons derived from carriers with/without FXTAS to test candidate modifiers
Associated Diseases	AD, ALI, ALS, Alzheimer, Ataxia
Known Drugs/Compounds	rapamycin
Interactions	SNCA, FAM134B, LC3, EPAS1, MIRO1, CTSD
KG Connections	589 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

FXTAS Phenotypic Penetrance: Why Only 40% of FMR1 Premutation Carriers Develop FXTAS

experiment · 1587 words

→

Pathway Diagram

graph TD
    FMR1["FMR1"] -->|"Interacts With"| Dementia["Dementia"]
    FMR1["FMR1"] -->|"Interacts With"| Cardiovascular["Cardiovascular"]
    FMR1["FMR1"] -->|"Interacts With"| Als["Als"]
    FMR1["FMR1"] -->|"Interacts With"| Alzheimer["Alzheimer"]
    FMR1["FMR1"] -->|"Interacts With"| Parkinson["Parkinson"]
    FMR1["FMR1"] -->|"Interacts With"| Ms["Ms"]
    FMR1["FMR1"] -->|"Interacts With"| Cancer["Cancer"]
    FMR1["FMR1"] -->|"Interacts With"| Aging["Aging"]
    CAT["CAT"] -->|"Interacts With"| FMR1["FMR1"]
    OPTN["OPTN"] -->|"Interacts With"| FMR1["FMR1"]
    DNM1L["DNM1L"] -->|"Interacts With"| FMR1["FMR1"]
    CANX["CANX"] -->|"Interacts With"| FMR1["FMR1"]
    LGALS3["LGALS3"] -->|"Interacts With"| FMR1["FMR1"]
    style FMR1 fill:#8d4900,color:#e0e0e0
    style Dementia fill:#b71c1c,color:#e0e0e0
    style Cardiovascular fill:#b71c1c,color:#e0e0e0
    style Als fill:#b71c1c,color:#e0e0e0
    style Alzheimer fill:#b71c1c,color:#e0e0e0
    style Parkinson fill:#b71c1c,color:#e0e0e0
    style Ms fill:#b71c1c,color:#e0e0e0
    style Cancer fill:#b71c1c,color:#e0e0e0
    style Aging fill:#b71c1c,color:#e0e0e0
    style CAT fill:#8d4900,color:#e0e0e0
    style OPTN fill:#8d4900,color:#e0e0e0
    style DNM1L fill:#8d4900,color:#e0e0e0
    style CANX fill:#8d4900,color:#e0e0e0
    style LGALS3 fill:#8d4900,color:#e0e0e0

Outgoing (331)

Target	Relation	Type	Str
TDP43	interacts_with	protein	0.95
Fragile X-associated tremor/ataxia syndrome	causes	disease	0.95
Fragile X-Associated Tremor/Ataxia Syndrome	causes	disease	0.95
RNA Granule Remodeling	mediates	process	0.92
TDP43 Aggregation	inhibits	process	0.90
CGG repeat expansion	associated_with	compound	0.90
Translation	associated_with	process	0.88
Amyotrophic Lateral Sclerosis	protects_against	disease	0.87
neurodegeneration	interacts_with	disease	0.70
autophagy pathway	participates_in	pathway	0.70
Dementia	interacts_with	disease	0.65
Cardiovascular	interacts_with	disease	0.65
Als	interacts_with	disease	0.65
Alzheimer	interacts_with	disease	0.65
Parkinson	interacts_with	disease	0.65
Ms	interacts_with	disease	0.65
Cancer	interacts_with	disease	0.65
Aging	interacts_with	disease	0.65
Amyotrophic Lateral Sclerosis	interacts_with	disease	0.65
Cardiovascular	therapeutic_target	disease	0.65
Frontotemporal Dementia	interacts_with	disease	0.65
Ftd	interacts_with	disease	0.65
Aging	regulates	disease	0.65
Als	regulates	disease	0.65
Cancer	regulates	disease	0.65
Cancer	activates	disease	0.65
Ms	associated_with	disease	0.65
Ataxia	associated_with	disease	0.65
Schizophrenia	associated_with	disease	0.65
Als	activates	disease	0.65
Autism	inhibits	disease	0.65
ALS	activates	disease	0.65
SNCA	interacts_with	gene	0.60
FAM134B	interacts_with	gene	0.60
LC3	interacts_with	gene	0.60
EPAS1	interacts_with	gene	0.60
MIRO1	interacts_with	gene	0.60
CTSD	interacts_with	gene	0.60
RB1	interacts_with	gene	0.60
EIF2AK3	interacts_with	gene	0.60
PRKN	interacts_with	gene	0.60
BCL2L11	interacts_with	gene	0.60
MUL1	interacts_with	gene	0.60
BNIP3	interacts_with	gene	0.60
DISC1	interacts_with	gene	0.60
EIF2S1	interacts_with	gene	0.60
RIPK3	interacts_with	gene	0.60
DRP1	interacts_with	gene	0.60
CHOP	interacts_with	gene	0.60
BECN1	interacts_with	gene	0.60

Incoming (258)

Source	Relation	Type	Str
ATG	activates	gene	0.70
CAT	interacts_with	gene	0.60
OPTN	interacts_with	gene	0.60
DNM1L	interacts_with	gene	0.60
CANX	interacts_with	gene	0.60
LGALS3	interacts_with	gene	0.60
CALCOCO2	interacts_with	gene	0.60
G3BP1	interacts_with	gene	0.60
PEX3	interacts_with	gene	0.60
SQSTM1	interacts_with	gene	0.60
BCL2	interacts_with	gene	0.60
LMNA	interacts_with	gene	0.60
STING1	interacts_with	gene	0.60
TAX1BP1	interacts_with	gene	0.60
ATM	interacts_with	gene	0.60
SNCAIP	interacts_with	gene	0.60
RB1CC1	interacts_with	gene	0.60
MFN1	interacts_with	gene	0.60
ERN1	interacts_with	gene	0.60
PARKIN	interacts_with	gene	0.60
GABARAP	associated_with	gene	0.60
ATF4	associated_with	gene	0.60
DDIT3	interacts_with	gene	0.60
ABCD3	interacts_with	gene	0.60
MAP1LC3B	interacts_with	gene	0.60
AMBRA1	interacts_with	gene	0.60
CTSD	interacts_with	gene	0.60
MUL1	interacts_with	gene	0.60
PRKN	interacts_with	gene	0.60
BNIP3L	interacts_with	gene	0.60
HIF1A	interacts_with	gene	0.60
GBA	interacts_with	gene	0.60
NDP52	interacts_with	gene	0.60
RHOT1	interacts_with	gene	0.60
BNIP3	interacts_with	gene	0.60
DRP1	interacts_with	gene	0.60
SESN2	interacts_with	gene	0.60
RB1	interacts_with	gene	0.60
BCL2L13	interacts_with	gene	0.60
P62	interacts_with	gene	0.60
PINK1	interacts_with	gene	0.60
BECN1	interacts_with	gene	0.60
RIPK3	interacts_with	gene	0.60
EPAS1	interacts_with	gene	0.60
FIP200	interacts_with	gene	0.60
PTEN	interacts_with	gene	0.60
MAPK8	interacts_with	gene	0.60
BCL2L11	interacts_with	gene	0.60
EIF2AK3	interacts_with	gene	0.60
NLRP3	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

FMR1

Understanding Entity Pages

Summary

Wiki Pages (21)

FXTAS Phenotypic Penetrance: Why Only 40% of FMR1 Premutation Carriers Develop FXTAS

Angelman Syndrome

Experiment Prioritization Index — Neurodegeneration

Trinucleotide Repeat Expansion Disorders

ALS RNA Metabolism and Proteostasis Failure

X-Linked Intellectual Disability

RAN Translation in Neurodegeneration

Cerebellar Granule Neurons

FMR1 — Fragile X Messenger Ribonucleoprotein 1

DYSF — Dysferlin

GRM5 Gene

Fragile X Syndrome

HARS1 — Histidyl-tRNA Synthetase 1

PHF6 Gene

Intellectual Disability

FXTAS Pathogenesis: Molecular Mechanisms

Fragile X Syndrome Neurons

NONO Gene

Autism Spectrum Disorder