PTCH1
patched 1
- Ensembl:
- ENSG00000185920
- UniProt:
- Q13635
- OMIM:
- 601309
- Synonyms:
- BCNS, NBCCS, PTCH, SLC65B1
Cilia effects upon perturbation of PTCH1
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.68) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=0.91) PMID:29459680
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=1, lfc=2.65) PMID:30270045
Phenotypes
- Mouse phenotype:
- preweaning lethality, complete penetrance
Ciliopathy associations
- Holoprosencephaly
- Medulloblastoma
Subcellular localization
basal body, cilia
Functional category
- Ciliary assembly/disassembly
- Reproduction & sperm
- Neurogenesis & migration
- Protein processing & maturation
- Signaling (Hedgehog, GPCRs, ion channels)
- Ciliary membrane
- Cardiac & muscle development
- Axon guidance & growth
- Transcription regulation
Function
Also known as PTC1. Transcriptio l target of Hh sig ling that inhibites Smo by preventing its accumulation within cilia and activation. Shh binds and i ctivates Ptc1, allowing activation of Smo (17641202, 32435793).
Model organism evidence
Mus musculus (2 references)
IFT139 regulates Hedgehog signaling and cilia structure through ciliary protein localization.
We also find significantly reduced expression of Gli1 and Ptch1, direct targets of Hh signaling, suggesting disruption of cilia-dependent Hh signaling in Intu mutant lungs.