Protein : PTCH

Connectivity 132
Notes This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor. Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative spliced variants have been described, but their full length sequences have not be determined.
Hugo ID 9585
Name PTCH
Description patched homolog (Drosophila)
URN urn:agi-llid:5727

GO Cellular Component integral to membrane
integral to plasma membrane
membrane

Cell Localization Plasma membrane

GO Biological Process embryonic limb morphogenesis
negative regulation of body size
organogenesis
regulation of smoothened receptor activity by patched
cell proliferation
morphogenesis
negative regulation of cell cycle
signal transduction

MGI ID 105373

Swiss-Prot Accession Q13635

OMIM ID OMIM:601309
OMIM:605462
OMIM:109400

Alias Ptch
patched (Drosophila) homolog
Ptch1
Ptc
mes
Ptc1
patched homolog 1
Patched 1
mesenchymal dysplasia
A230106A15Rik
RIKEN cDNA A230106A15 gene
BCNS
NBCCS
patched homolog (Drosophila)
homolog of Drosophila Patched,
Nevoid basal cell carcinoma syndrome
patched homolog
Patched I
Patched protein homolog 1
Patched protein homolog I
PTC I
similar to patched
mesenchymal dysplasia protein

Organism Rattus norvegicus
Mus musculus
Human

LocusLink ID 89830
17290
19206
77214
5727
8015

RGD ID 621425

Pathway moduleg_direct
moduleg_shortest
modulef_direct

Unigene ID Rn.102312
Mm.138472
Hs.159526

Group Receptors