LRRC56

leucine rich repeat containing 56

Ensembl:
ENSG00000273831, ENSG00000161328
UniProt:
Q8IYG6
OMIM:
618227
Synonyms:
DKFZP761L1518, DNAAF12, FLJ00101, ODA8

Cilia effects upon perturbation of LRRC56

Cilia number / % ciliated:
No effect
Loss-of-function effect:
No effect

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=426, lfc=-0.12) PMID:30270045

Phenotypes

Mouse phenotype:
hypospermia, abnormal heart position or orientation, abnormal heartbeat, spermatogenesis defect, germ cell defect, enlarged lymph nodes, abnormal skin morphology, developmental dysplasia, abnormal lung morphology
Mouse ciliopathy phenotype:
increased circulating alanine transamise level, male infertility, hydrocephalus

Ciliopathy associations

  • Hydrocephalus
  • Male Infertility
  • Mucociliary Clearance Disorder
  • Primary Ciliary Dyskinesia
  • Visceral Heterotaxy / Situs Inversus

Subcellular localization

basal body, cilia, lysosomes

Functional category

  • Ciliary assembly/disassembly
  • Cell migration & adhesion

Function

Interacts with the intraflagellar transport (IFT) protein IFT88. Required for the transport and addition of dynein arms to the distal end of the flagellum during cilia assembly. Mutations result in a disease entity within the group of mucociliary clearance disorders and loss of ciliary motility (30388400). LRRC56 frameshift variant causes severely dyskinetic cilia without obvious ultrastructural defects. Lrrc56-KO mice show laterality defects, male infertility, hydrocephalus, and defective mucociliary clearance. Reduces expression of MIPs and axonemal dynein assembly factors.

Model organism evidence

Mus musculus (2 references)

LRRC56 deficiency cause motile ciliopathies in humans and mice.

LRRC56 deletion causes primary ciliary dyskinesia in mice characterized by dynein arms defects.

PMIDs: 41477643, 39912490

Xenopus (2 references)

Physical and functional interaction of the ciliopathy proteins Lrrc56 and Odad3 control deployment of axonemal dyneins in vertebrate multiciliated cells.

Physical and functional interaction of Lrrc56 and Odad3 controls deployment of axonemal dyneins in vertebrate multiciliated cells.

PMIDs: 41229303, 40631331