protein 2,355 words KG: C9ORF72
Contents

C9orf72 Protein

🔬 Protein Info
Gene SymbolC9ORF72
Full Namec9orf72
Chromosomechromosome 9p21.2.
Protein TypeProtein
Functionis a 481-amino acid protein with an approximate molecular weight of 54 kDa.
Primary ExpressionNormal and Neoplastic cells) domain family, functioning as a guanine nucleotide exchange factor (GEF) for Rab GTPases involved in endolysosomal traffi
Molecular Weight54 kDa
PathwaysApoptosis, Autophagy, Er Stress, LYSOSOMES, Microbiota
UniProt IDSearch UniProt
GeneCardsC9ORF72
Human Protein AtlasC9ORF72
Associated DiseasesALS, ALS/FTD, Aging, Alzheimer, Alzheimer's Disease
Known Drugs/CompoundsBIIB078, Antisense oligonucleotides
InteractionsNBR1, G3BP1, TOLLIP, SQSTM1, NDP52, TAX1BP1
KG Connections1371 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph

Related Hypotheses (30)

Heat Shock Protein 70 Disaggregase Amplification
Score: 0.51
Vocal Cord Neuroplasticity Stimulation
Score: 0.50
Stress Granule Phase Separation Modulators
Score: 0.49
Arginine Methylation Enhancement Therapy
Score: 0.46
Cryptic Exon Silencing Restoration
Score: 0.46

Related Analyses (15)

APOE4 structural biology and therapeutic targeting strategie
neurodegeneration · archived
Senolytic therapy for age-related neurodegeneration
neurodegeneration · archived
Neuroinflammation resolution mechanisms and pro-resolving me
neurodegeneration · archived
Synaptic pruning by microglia in early AD
neurodegeneration · archived
Mitochondrial transfer between astrocytes and neurons
neurodegeneration · archived

Related Experiments (9)

s:** - Single-cell RNA-seq to measure editing efficiency acr
falsification · proposed · Score: 0.40
ALS Regional Onset and Spread: Network-Level Staging Model
clinical · proposed · Score: 0.40
Autophagy Enhancement Drug Screening for Neurodegeneration
clinical · proposed · Score: 0.40
CRISPR Gene Correction Approaches for CBS/PSP
clinical · proposed · Score: 0.40
Frontal and Temporal Lobe Selective Vulnerability in FTD — M
validation · proposed · Score: 0.40

See Also (5)

Aging vs Neurodegeneration: Mechanistic Comparison Matr
mechanism · KG edge: co_discussed
Actin Cytoskeleton Dynamics in Neurodegeneration
mechanism · KG edge: co_discussed
Packard Center for ALS Research
institution · KG edge: activates
ACTB Gene
gene · KG edge: activates
ABCA7 (Redirect)
redirect · KG edge: associated_with

Knowledge Graph (12 edges)

C9ORF72 regulates VESICLE_TRAFFICKING
C9ORF72 encodes POLY_PR
C9ORF72 regulates vesicle_trafficking
C9ORF72 regulates lysosomal_biogenesis
C9ORF72 interacts_with NBR1
C9ORF72 interacts_with G3BP1
C9ORF72 interacts_with TOLLIP
C9ORF72 interacts_with SQSTM1
C9ORF72 interacts_with NDP52
C9ORF72 interacts_with TAX1BP1