protein 1,191 words KG: ASXL1PROTEIN
Contents

ASXL1 Protein

🔬 Protein Info
Gene SymbolASXL1
Full NameAdditional Sex Combs Like 1
AliasesASXL1PROTEIN
Chromosome20q11.21
Protein TypeGene
Functionis a critical epigenetic regulator that encodes a chromatin-binding protein involved in histone modification and transcriptional regulation.
Primary ExpressionCorpus Callosum
Amino Acids561 aa
Exons12
PathwaysEpigenetic, Immune Response, Innate Immunity, Stem Cell, inflammation
GeneCardsASXL1
Human Protein AtlasASXL1
ASXH Domain (ASXL Homology)Located at the N-terminus, this domain mediates protein-protein interactions and is essential for recruiting chromatin-modifying enzymes [@asxl2015].
PHD Finger DomainA C-terminal plant homeodomain that recognizes histone modifications, particularly H3K4me3, enabling targeted recruitment to specific genomic loci.
Associated DiseasesAls, Alzheimer, Cancer, Cardiovascular, Heart Failure, Inflammation
InteractionsALZHEIMER, ALZHEIMER'S DISEASE, AND, App, BRAF, CACNA1G
KG Connections102 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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