DNAI1

dynein axonemal intermediate chain 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000122735
UniProt:
Q9UI46
OMIM:
604366
Synonyms:
CILD1, DIC1, ODA6, PCD

Ciliogenesis screen results (5 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.86, ciliated=59.5%) PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.19) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
primary ciliary dyskinesia; ciliopathy

Ciliopathy associations

  • Primary Ciliary Dyskinesia
  • Visceral Heterotaxy / Situs Inversus

References: PMID:11231901, PMID:10577904, PMID:41987553

Subcellular localization

cilia

References: PMID:41410385, PMID:42010243, PMID:41005307, PMID:11231901, PMID:29113992

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Axonemal outer dynein intermediate-chain protein. Mutations result in primary ciliary dyskinesia with situs solitus or situs inversus (11231901). D I and DNAI2 form a complex essential for the stability of both proteins during early stages of outer dynein arms assembly (29113992)