id: Pfam:PF12372
pfam_id: PF12372
name: Huntingtin, N-terminal HEAT
short_name: Htt_N-HEAT
seed_status: EX_DUF
characterization_status: UNSCORED
curation_status: SEEDED
source_url: https://www.ebi.ac.uk/interpro/api/entry/pfam/PF12372
counters:
  proteins: 2033
  matches: 2362
  proteomes: 1042
  taxa: 3613
  structures: 13
  alphafold_models: 219
  domain_architectures: 94
provenance:
  snapshot_id: interpro-pfam-duf-2026-10-10
  path: data/worklists/interpro-pfam-duf-2026-10-10.json
  sha256: 17fb625876c9326ed284263a47bcd84e0d7844a31c040dc06cd2260c36f1c383
  generated_at: '2026-10-10T07:44:21.614711Z'
  source_url: https://www.ebi.ac.uk/interpro/api/entry/pfam/
interpro_id: InterPro:IPR024613
description: 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.