{"metadata":{"accession":"PF12372","entry_id":null,"type":"repeat","go_terms":null,"source_database":"pfam","member_databases":null,"integrated":"IPR024613","hierarchy":null,"name":{"name":"Huntingtin, N-terminal HEAT","short":"Htt_N-HEAT"},"description":[{"text":"<p>This entry represents HEAT repeats from Huntingtin (HTT), which are part of the N-terminal HEAT domain. These are a second set, separated from N-HEAT_1 ([pfam:PF20926]) by an unstructured region [[cite:PUB00018624],[cite:PUB00100583]]. 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 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:PUB00018624]]. HTT consists of multiple HEAT repeats organised in N-terminal, bridge and C-terminal domains [[cite:PUB00018624]], which function as a scaffold that mediated interactions with binding partners.</p>","llm":false,"checked":false,"updated":false}],"wikipedia":null,"literature":{"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},"PUB00018624":{"PMID":7647777,"ISBN":null,"volume":"10","issue":"1","year":1995,"title":"Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.","URL":null,"raw_pages":"104-10","medline_journal":"Nat Genet","ISO_journal":"Nat. Genet.","authors":["Trottier Y","Devys D","Imbert G","Saudou F","An I","Lutz Y","Weber C","Agid Y","Hirsch EC","Mandel JL."],"DOI_URL":"http://dx.doi.org/10.1038/ng0595-104"},"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}},"set_info":{"accession":"CL0020","name":"TPR"},"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":94,"interactions":0,"matches":2362,"pathways":0,"proteins":2033,"proteomes":1042,"sets":1,"structural_models":{"alphafold":219},"structures":13,"taxa":3613},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":9,"alignment:full":1904},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}