{
 "gene": "ACTB",
 "run_date": "2026-06-09T22:02:40",
 "timeline": {
  "current_model": "ACTB encodes cytoplasmic \u03b2-actin, a cytoskeletal protein whose polymerization dynamics, profilin binding, and subcellular localization (including at epithelial junctions and in the nucleus) are mechanistically linked to neuronal migration, cell adhesion, migration, proliferation, and stereocilia maintenance; gain-of-function missense mutations disrupt actin polymerization/depolymerization dynamics and cause Baraitser-Winter syndrome, loss-of-function causes a distinct pleiotropic developmental disorder with reduced nuclear \u03b2-actin and impaired cell migration/proliferation, SETD3-mediated H73 methylation of ACTB governs its genomic distribution and SMARCA4 colocalization to regulate transcription, and ACTB promoter-swap gene fusions (e.g., ACTB-GLI1) drive oncogenic transcription factor deregulation in mesenchymal tumors."
 },
 "narrative": {
  "mechanism_profile": {
   "molecular_activity": [
    {
     "term_id": "GO:0005198",
     "term_label": "structural molecule activity",
     "supporting_discovery_ids": [
      4,
      5,
      2
     ]
    },
    {
     "term_id": "GO:0008092",
     "term_label": "cytoskeletal protein binding",
     "supporting_discovery_ids": [
      4,
      9
     ]
    },
    {
     "term_id": "GO:0003677",
     "term_label": "DNA binding",
     "supporting_discovery_ids": [
      11
     ]
    }
   ],
   "localization": [
    {
     "term_id": "GO:0005856",
     "term_label": "cytoskeleton",
     "supporting_discovery_ids": [
      5,
      9
     ]
    },
    {
     "term_id": "GO:0005634",
     "term_label": "nucleus",
     "supporting_discovery_ids": [
      2,
      11
     ]
    },
    {
     "term_id": "GO:0005829",
     "term_label": "cytosol",
     "supporting_discovery_ids": [
      2
     ]
    }
   ],
   "pathway": [
    {
     "term_id": "GO:0140110",
     "term_label": "transcription regulator activity",
     "supporting_discovery_ids": [
      11,
      6
     ]
    }
   ],
   "complexes": [
    "SWI/SNF (BAF) complex (via H73-methylated ACTB-SMARCA4 colocalization)"
   ],
   "partners": [
    "PFN1",
    "SETD3",
    "SMARCA4",
    "ECE1",
    "NRF1"
   ],
   "other_free_text": []
  }
 },
 "prefetch_data": {
  "uniprot": {
   "accession": "P60709",
   "full_name": "Actin, cytoplasmic 1"
  }
 },
 "evaluation": {
  "pairwise": "win",
  "faith_supported": 5,
  "faith_total": 5,
  "faith_pct": 100.0
 },
 "cost": {
  "total_usd": 0.181632
 }
}