id: Pfam:PF06469
pfam_id: PF06469
name: Neurobeachin-like, DUF1088
short_name: DUF1088
seed_status: KNOWN_HISTORICAL_DUF
characterization_status: UNSCORED
curation_status: SEEDED
source_url: https://www.ebi.ac.uk/interpro/api/entry/pfam/PF06469
counters:
  proteins: 4966
  matches: 4996
  proteomes: 1181
  taxa: 3860
  structures: 0
  alphafold_models: 517
  domain_architectures: 84
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:IPR010508
description: This domain is found in the neurobeachins (NBEAs) and BEACH domain containing proteins (BDCPs).
  NBEAS are localised near Golgi apparatus and is involved in vesicular trafficking, intracellular transport,
  membrane dynamics, endosomal recycling, and receptor signalling. BDCPs are associated with lysosome
  size, apoptosis, autophagy, granule size, or synapse formation. Mutations in this domain have been related
  to autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency,
  responsible for common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome
  (ALPS) [[cite:PUB00098183]]. NBEAs deficiency may induce spine loss with defects in synaptic efficacy
  and plasticity, being associated with autism spectrum disorder (ASD) and ASD-related syndromes [[cite:PUB00098182]].