homolog of drosophila patched protein 1; PTC protein-1; patched homolog protein 1 (PTC1, PTCH1)

Function

• transcriptional repression of members of Wnt & TGF-beta gene families
• action of PTC1 is opposed by hedgehog
• acts as a receptor for
  • sonic hedgehog (SHH)
  • Indian hedgehog (IHH)
  • desert hedgehog (DHH)
• associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal
• seems to have a tumor suppressor function; inactivation of PTCH1 is probably a necessary, if not sufficient for tumorigenesis
• glycosylation is necessary for SHH binding (putative)
• interacts with SNX17

Structure

• belongs to the patched family
• contains 1 SSD (sterol-sensing) domain

Compartment

membrane

Expression

• in the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas & kidney
• expressed in tumor cells but not in normal skin
• in the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, & tissues surrounding the zone of polarizing activity of the limb bud

Pathology

• defects in PTCH1 are probably the cause of basal cell nevus syndrome; may be associated with large body size
• PTCH1 is also mutated in squamous cell carcinoma of the skin
• defects in PTCH1 are a cause of sporadic basal cell carcinoma
• defects in PTCH1 are the cause of holoprosencephaly type 7

More general terms

• homolog of drosophila patched protein (PTC)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5727
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5727
• OMIM: https://mirror.omim.org/entry/109400
• OMIM: https://mirror.omim.org/entry/601309
• OMIM: https://mirror.omim.org/entry/605462
• OMIM: https://mirror.omim.org/entry/610828
• UniProt: http://www.uniprot.org/uniprot/Q13635.html