DYNC1H1

dynein cytoplasmic 1 heavy chain 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000197102
UniProt:
Q14204
OMIM:
600112
Synonyms:
CMT2O, DHC1, DNCH1, DNCHC1, DNCL, DNECL, HL-3, P22

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.80) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
impaired glucose tolerance, decreased locomotor activity, abnormal vocalization
Human ciliopathy phenotype:
intellectual disability, autosomal dominant 13; Intellectual disability

Subcellular localization

centrosome, cilia, cytosol, microtubules

References: PMID:20412557

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Metabolism
  • Viral interactions
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Titrated knock-down of dync1h1 indicated that outer segment morphogenesis was affected in photoreceptors that showed normal inner segments. Dync1h1, Dync1i1, and Dnct1 immunoreactivity is associated with photoreceptor axonemes.(20412557).