DNAH11

dynein axonemal heavy chain 11

Ensembl:
ENSG00000105877
UniProt:
Q96DT5
OMIM:
603339
Synonyms:
CILD7, DNAHBL, DNAHC11, DNHBL, DPL11

Cilia effects upon perturbation of DNAH11

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.92) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia
  • Visceral Heterotaxy / Situs Inversus

Subcellular localization

cilia, flagella, microtubules

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Metabolism
  • T cell biology
  • Reproduction & sperm
  • Cell migration & adhesion
  • Cardiac & muscle development

Function

Encodes a ciliary outer dynein arm protein. Required for bending of the proximal ciliary region during the effective and recovery strokes of the ciliary beat cycle. Mutations are a common cause of primary ciliary dyskinesia and situs inversus (26909801, 29467202, 12142464)