DRC7

dynein regulatory complex subunit 7

Ensembl:
ENSG00000159625
UniProt:
Q8IY82
OMIM:
618769
Synonyms:
C16ORF50, CCDC135, CFAP50, DKFZP434I099, FAP50

Cilia effects upon perturbation of DRC7

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=1.75) PMID:29459680

Phenotypes

Mouse phenotype:
abnormal sinus arrhythmia, decreased grip strength, increased circulating alkaline phosphatase level, abnormal coat/hair pigmentation
Mouse ciliopathy phenotype:
male infertility

Subcellular localization

basal body, cilia

Functional category

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

Function

Central linker subunit that helps connect the N-DRC to the outer dynein arms. Loss of DRC7 causes defects in sperm storage and fertility (31659045). Essential for the correct assembly of the N-DRC and flagella, stability of the N-DRC is essential for proper axoneme elongation. DRC7 is essential to localize DRC5 in the correct place, and that DRC5 regulates flagellar motility (31961863)

Model organism evidence

Mus musculus (1 reference)

Utilizing Drc1-4 and Drc7 knockout mice, this study systematically reveals the roles and assembly process of core N-DRC components in ependymal cilia, respiratory cilia, and sperm flagella.

PMIDs: 40089458