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PTCH1 a multi-pass membrane protein member of the ?patched? family that 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 protein?s signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. Interacts with SNX17. 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, and tissues surrounding the zone of polarizing activity of the limb bud. Defects in PTCH1 are the cause of basal cell nevus syndrome (BCNS), also known as Gorlin syndrome. BCNS is 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. PTCH1 defects is also the cause of holoprosencephaly, the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Note: This description may include information from UniProtKB.
Protein type: Cell cycle regulation; Membrane protein, integral; Membrane protein, multi-pass; Tumor suppressor
Chromosomal Location of Human Ortholog: 9q22.32
Cellular Component: caveola; Golgi apparatus; intracellular membrane-bound organelle; perinuclear region of cytoplasm; plasma membrane
Molecular Function: cholesterol binding; cyclin binding; protein binding; smoothened binding
Biological Process: brain development; dorsal/ventral pattern formation; embryonic limb morphogenesis; limb morphogenesis; negative regulation of multicellular organism growth; negative regulation of osteoblast differentiation; negative regulation of smoothened signaling pathway; negative regulation of transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; neural plate pattern formation; neural tube patterning; organ morphogenesis; pharyngeal system development; protein processing; regulation of smoothened signaling pathway; smoothened signaling pathway
Disease: Basal Cell Carcinoma, Susceptibility To, 1; Basal Cell Nevus Syndrome; Holoprosencephaly 7
Reference #:  Q13635 (UniProtKB)
Alt. Names/Synonyms: BCNS; FLJ26746; FLJ42602; HPE7; NBCCS; patched homolog 1 (Drosophila); Protein patched homolog 1; PTC; PTC1; PTCH; PTCH protein +12b; PTCH protein +4'; PTCH protein -10; PTCH1; PTCH11
Gene Symbols: PTCH1
Molecular weight: 160,545 Da
Basal Isoelectric point: 6.42  Predict pI for various phosphorylation states
CST Pathways:  Hedgehog Signaling
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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