PTCHD3

patched domain containing 3 (gene/pseudogene)

Ensembl:
ENSG00000276595, ENSG00000182077
UniProt:
Q3KNS1
OMIM:
611791
Synonyms:
FLJ44037, PTR, SLC65C3

Cilia effects upon perturbation of PTCHD3

Ciliogenesis screen results (2 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
anophthalmia, abnormal eye morphology

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Reproduction & sperm
  • Neurogenesis & migration

Function

DYF-4 is a regulator for DAF-6 which promotes the proper formation of the glial channel and indirectly affects neurite extension and ciliogenesis ( 34115759).

Model organism evidence

Mus musculus (1 reference)

The daf-25 dauer phenotype is suppressed by daf-10/IFT122 mutations (which disrupt ciliogenesis), but not by daf-6/PTCHD3 mutations (which prevent environmental exposure of sensory cilia), implying that DAF-25 functions in the cilia themselves.

PMIDs: 21124868

C. elegans (2 references)

The daf-25 dauer phenotype is suppressed by daf-10/IFT122 mutations (which disrupt ciliogenesis), but not by daf-6/PTCHD3 mutations (which prevent environmental exposure of sensory cilia), implying that DAF-25 functions in the cilia themselves.

Here, we show that the Hh receptor Patched-related factor DAF-6 and intraflagellar transport modulate serotonin production in Caenorhabditis elegans animals, by remodeling the architecture of dendritic cilia of a pair of ADF serotonergic chemosensory neurons.

PMIDs: 21124868, 19339602