NSD1

nuclear receptor binding SET domain protein 1

Tier: Cilia-Associated Genes

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

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

nucleus

References: PMID:40552535

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.

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