DYNC1H1

dynein cytoplasmic 1 heavy chain 1

Ensembl:
ENSG00000197102
UniProt:
Q14204
OMIM:
600112
Synonyms:
CMT2O, DHC1, DNCH1, DNCHC1, DNCL

Cilia effects upon perturbation of DYNC1H1

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

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).

Model organism evidence

Mus musculus (3 references)

Dnah5 is associated with primary ciliary dyskinesia in humans.

To evaluate this function in the retina, we conditionally deleted ARL2 in mouse retina at two distinct stages, either during the embryonic development (retArl2-/-) or after ciliogenesis specifically in rods (rodArl2-/-).

PMIDs: 39594631, 36611941, 34526758

Danio rerio (1 reference)

We hypothesized that basal body localization and outer segment formation would require the microtubule motor dynein 1 and analyzed the zebrafish cannonball and mike oko mutants, which carry mutations in the heavy chain subunit of cytoplasmic dynein 1 (dync1h1) and the p150(Glued) subunit of Dyna

PMIDs: 26427413