PTCH1

Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly.

Patched 1

Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.

Animal organ morphogenesisISS:UniProtKB
Brain developmentISS:BHF-UCL
Branching involved in ureteric bud morphogenesisIEA:Ensembl
Cell differentiation involved in kidney developmentIEA:Ensembl
Cell fate determinationIEA:Ensembl
Cell proliferation involved in metanephros developmentIEA:Ensembl
Cellular response to cholesterolManual Assertion Based On ExperimentIMP:BHF-UCL
Commissural neuron axon guidanceIEA:Ensembl
Dorsal/ventral pattern formationISS:UniProtKB
Embryonic limb morphogenesisISS:UniProtKB
Embryonic organ developmentIEA:Ensembl
Epidermal cell fate specificationIEA:Ensembl
Glucose homeostasisIEA:Ensembl
Heart morphogenesisIEA:Ensembl
Hindlimb morphogenesisIEA:Ensembl
In utero embryonic developmentIEA:Ensembl
Keratinocyte proliferationIEA:Ensembl
Limb morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Liver regenerationIEA:Ensembl
Mammary gland duct morphogenesisIEA:Ensembl
Mammary gland epithelial cell differentiationIEA:Ensembl
Metanephric collecting duct developmentManual Assertion Based On ExperimentIEP:UniProtKB
Negative regulation of cell divisionIEA:Ensembl
Negative regulation of DNA-binding transcription factor activityManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of keratinocyte proliferationIEA:Ensembl
Negative regulation of multicellular organism growthISS:UniProtKB
Negative regulation of osteoblast differentiationManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of smoothened signaling pathwayISS:BHF-UCL
Negative regulation of stem cell proliferationIEA:Ensembl
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:BHF-UCL
Neural plate axis specificationISS:BHF-UCL
Neural tube closureIEA:Ensembl
Neural tube patterningManual Assertion Based On ExperimentIMP:BHF-UCL
Pharyngeal system developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of cholesterol effluxManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of epidermal cell differentiationIEA:Ensembl
Positive regulation of transcription, DNA-templatedIEA:Ensembl
Prostate gland developmentIEA:Ensembl
Protein localization to plasma membraneManual Assertion Based On ExperimentIDA:BHF-UCL
Protein processingISS:UniProtKB
Regulation of mitotic cell cycleIEA:Ensembl
Regulation of protein localizationIEA:Ensembl
Regulation of smoothened signaling pathwayISS:UniProtKB
Response to chlorateIEA:Ensembl
Response to estradiolIEA:Ensembl
Response to mechanical stimulusIEA:Ensembl
Response to retinoic acidIEA:Ensembl
Response to xenobiotic stimulusIEA:Ensembl
Smooth muscle tissue developmentManual Assertion Based On ExperimentIEP:UniProtKB
Smoothened signaling pathwayISS:UniProtKB
Smoothened signaling pathway involved in dorsal/ventral neural tube patterningIEA:Ensembl
Somite developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Spermatid developmentIEA:Ensembl
Spinal cord motor neuron differentiationIEA:Ensembl
Stem cell proliferationIEA:Ensembl

Cell membrane

Basal cell nevus syndrome (BCNS):
An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.
Basal cell carcinoma (BCC):
A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.
Holoprosencephaly 7 (HPE7):
A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.

Cytoplasmic: 1-100
Helical: 101-121
Extracellular: 122-436
Helical: 437-457
Cytoplasmic: 458-472
Helical: 473-493
Extracellular: 494-501
Helical: 502-522
Cytoplasmic: 523-547
Helical: 548-568
Extracellular: 569-577
Helical: 578-598
Cytoplasmic: 599-748
Helical: 749-769
Extracellular: 770-1027
Helical: 1028-1048
Cytoplasmic: 1049-1055
Helical: 1056-1076
Extracellular: 1077-1083
Helical: 1084-1104
Cytoplasmic: 1105-1121
Helical: 1122-1141
Extracellular: 1142-1154
Helical: 1155-1175
Cytoplasmic: 1176-1447

Glycosylation is necessary for SHH binding.
In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation.