mechanism 833 words KG: ent-gene-caf074c2
Contents

HTT Transcriptional Dysregulation Pathway

🔬 Protein Info
Gene Symbolent-gene-caf074c2
FunctionCBP is a histone acetyltransferase (HAT) and transcriptional coactivator
Normal functionWild-type huntingtin sequesters REST in the cytoplasm, preventing REST from entering the nucleus
In HDMutant huntingtin loses this function, allowing REST to translocate to the nucleus
ConsequenceReduced histone acetylation and transcriptional silencing[@mcquaid2016]
Target genesN-methyl-D-aspartate (NMDA) receptor subunits, synapsins, neurotrophic peptides
InteractionmHTT binds to Sp1 and TAFII130 (TBP-associated factor)
Affected pathwaysDNA repair genes, anti-apoptotic proteins
Nuclear accumulationmHTT promotes p53 nuclear accumulation
Transcriptional shiftp53 shifts from pro-survival to pro-apoptotic gene targets
SequestrationmHTT aggregates trap CBP, reducing its nuclear availability
Therapeutic targetHDAC inhibitors can partially restore CBP function
KG Connections3 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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Knowledge Graph

Related Hypotheses (26)

Mitochondrial RNA Granule Rescue Pathway
Score: 0.66
The Mitochondrial-Lysosomal Metabolic Coupling Dysfunction
Score: 0.65
Grid Cell-Specific Metabolic Reprogramming via IDH2 Enhancem
Score: 0.65
FOXO3-Longevity Pathway Epigenetic Reprogramming
Score: 0.63
TFEB-PGC1α Mitochondrial-Lysosomal Decoupling
Score: 0.62
Complement-Mediated Synaptic Pruning Dysregulation
Score: 0.61
← Prevpg 2/2

Related Analyses (30)

CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · completed
CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · archived
Epigenetic clocks and biological aging in neurodegeneration
neurodegeneration · archived
Astrocyte reactivity subtypes in neurodegeneration
neurodegeneration · archived
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

Related Experiments (7)

Epigenetic Dysregulation in Huntington's Disease — Therapeut
validation · completed · Score: 0.40
s:** - Temporal analysis showing mitochondrial defects prece
falsification · proposed · Score: 0.40
Mutant Huntingtin (mHTT) Clearance Mechanisms — Therapeutic
validation · proposed · Score: 0.40
Microbiome-Gut Barrier Signatures in ALS — Experiment Design
clinical · proposed · Score: 0.40
Epigenetic Regulation Dysfunction in Alzheimer's and Parkins
clinical · proposed · Score: 0.40

Knowledge Graph (3 edges)

ent-gene-caf074c2 participates_in_pathway R-HSA-380615
ent-gene-caf074c2 data_in benchmark_ot_ad_answer_key:HTT
benchmark_ot_ad_answer_key:HTT data_in ent-gene-caf074c2

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