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{
"metadata": {
"accession": "PF20925",
"entry_id": null,
"type": "repeat",
"go_terms": null,
"source_database": "pfam",
"member_databases": null,
"integrated": "IPR048412",
"hierarchy": null,
"name": {
"name": "Huntingtin, bridge",
"short": "Htt_bridge"
},
"description": [
{
"text": "<p>HTT is expressed in many tissues, with various expression levels and is involved in a number of cellular functions. However, its exact function is not yet clear. An an abnormal polyglutamine (polyQ) expansion in this protein causes Huntington's disease (HD) a progressive autosomal-dominant neurodegenerative disease characterised by an uncontrolled motor movement known as chorea, cognitive disorder and depression [[cite:PUB00100583]]. HTT consists of multiple HEAT repeats organised in N-terminal, bridge (represented in this entry) and C-terminal domains [[cite:PUB00100583]], which function as a scaffold that mediates interactions with binding partners. This domain connects the N- and C-HEAT domains.</p>",
"llm": false,
"checked": false,
"updated": false
}
],
"wikipedia": null,
"literature": {
"PUB00100584": {
"PMID": 32668197,
"ISBN": null,
"volume": "28",
"issue": "9",
"year": 2020,
"title": "The Polyglutamine Expansion at the N-Terminal of Huntingtin Protein Modulates the Dynamic Configuration and Phosphorylation of the C-Terminal HEAT Domain.",
"URL": null,
"raw_pages": "1035-1050.e8",
"medline_journal": "Structure",
"ISO_journal": "Structure",
"authors": [
"Jung T",
"Shin B",
"Tamo G",
"Kim H",
"Vijayvargia R",
"Leitner A",
"Marcaida MJ",
"Astorga-Wells J",
"Jung R",
"Aebersold R",
"Peraro MD",
"Hebert H",
"Seong IS",
"Song JJ."
],
"DOI_URL": null
},
"PUB00100583": {
"PMID": 29466333,
"ISBN": null,
"volume": "555",
"issue": "7694",
"year": 2018,
"title": "The cryo-electron microscopy structure of huntingtin.",
"URL": null,
"raw_pages": "117-120",
"medline_journal": "Nature",
"ISO_journal": "Nature",
"authors": [
"Guo Q",
"Bin Huang",
"Cheng J",
"Seefelder M",
"Engler T",
"Pfeifer G",
"Oeckl P",
"Otto M",
"Moser F",
"Maurer M",
"Pautsch A",
"Baumeister W",
"Fernandez-Busnadiego R",
"Kochanek S."
],
"DOI_URL": null
}
},
"set_info": {
"accession": "CL0020",
"name": "TPR"
},
"overlaps_with": null,
"counters": {
"subfamilies": 0,
"domain_architectures": 65,
"interactions": 0,
"matches": 1857,
"pathways": 0,
"proteins": 1838,
"proteomes": 802,
"sets": 1,
"structural_models": {
"alphafold": 89,
"bfvd": 0
},
"structures": 12,
"taxa": 2997
},
"entry_annotations": {
"hmm": 0,
"logo": 0,
"alignment:seed": 28,
"alignment:full": 1296
},
"cross_references": {},
"is_llm": false,
"is_reviewed_llm": false,
"is_updated_llm": false,
"representative_structure": null
}
}
