PTCH1
patched 1
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000185920
- UniProt:
- Q13635
- OMIM:
- 601309
- Synonyms:
- BCNS, NBCCS, PTCH, SLC65B1
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
References: PMID:11941477, PMID:17001668, PMID:26027634
Subcellular localization
basal body, cilia
References: PMID:41005307, PMID:17641202, PMID:32435793
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. Transcriptional target of Hh signaling that inhibites Smo by preventing its accumulation within cilia and activation. Shh binds and inactivates Ptc1, allowing activation of Smo (17641202, 32435793).