DNHD1

dynein heavy chain domain 1

Ensembl:
ENSG00000179532
UniProt:
Q96M86
OMIM:
617277
Synonyms:
C11ORF47, CCDC35, DHCD1, DKFZP686J0796, DNHD1L

Cilia effects upon perturbation of DNHD1

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Subcellular localization

flagella

Functional category

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

Function

In sperm from control individuals, the DNHD1 staining was present throughout the entire flagella with a high intensity in the midpiece of the sperm flagellum (36768883).

Model organism evidence

Mus musculus (1 reference)

Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.

PMIDs: 34932939