id: Pfam:PF01172
pfam_id: PF01172
name: Shwachman-Bodian-Diamond syndrome (SBDS) N-terminal domain
short_name: SBDS_N
seed_status: EX_DUF
characterization_status: UNSCORED
curation_status: SEEDED
source_url: https://www.ebi.ac.uk/interpro/api/entry/pfam/PF01172
counters:
  proteins: 5765
  matches: 5781
  proteomes: 3701
  taxa: 9360
  structures: 14
  alphafold_models: 4925
  domain_architectures: 73
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:IPR019783
description: This entry represents the N-terminal domain of proteins that are highly conserved in species
  ranging from archaea to vertebrates and plants [[cite:PUB00020303]], including several Shwachman-Bodian-Diamond
  syndrome (SBDS) proteins from both mouse and humans. Shwachman-Diamond syndrome is an autosomal recessive
  disorder with clinical features that include pancreatic exocrine insufficiency, haematological dysfunction
  and skeletal abnormalities. It is characterised by bone marrow failure and leukemia predisposition.
  Members of this entry play a role in RNA metabolism [[cite:PUB00020304]][[cite:PUB00020305]]. In yeast
  these proteins have been shown to be critical for the release and recycling of the nucleolar shuttling
  factor Tif6 from pre-60S ribosomes, a key step in 60S maturation and translational activation of ribosomes
  [[cite:PUB00045126]]. This data links defective late 60S subunit maturation to an inherited bone marrow
  failure syndrome associated with leukemia predisposition [[cite:PUB00045126]].