NSD1

nuclear receptor binding SET domain protein 1

Ensembl:
ENSG00000165671
UniProt:
Q96L73
OMIM:
606681
Synonyms:
ARA267, FLJ22263, KMT3B, STO

Cilia effects upon perturbation of NSD1

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.68) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-5.98) PMID:41160700

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transcription regulation

Function

In vitro pooled CRISPR interference screen to identify CHD genes disrupting NPC biology and identified 45 CHD genes. A cluster of ASD and CHD genes are enriched for ciliary biology, and perturbing any one of seven such genes (CEP290, CHD4, KMT2E, NSD1, OFD1, RFX3 and TAOK1) impairs primary cilia formation in vitro(PMID: 40552535). A case with Sotos syndrome described due to a de novo pathogenic variant in the NSD1 gene presenting with polycystic kidneys and hepatic fibrosis.

Model organism evidence

Mus musculus (1 reference)

Skeletal disorders include aggrecanopathies, channelopathies, ciliopathies, cohesinopathies, laminopathies, linkeropathies, lysosomal storage diseases, protein-folding and RNA splicing defects, and ribosomopathies.

PMIDs: 32117046