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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.
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| Protein type: Membrane protein, integral; Cell cycle regulation |
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Cellular Component: Golgi apparatus; intracellular membrane-bound organelle; perinuclear region of cytoplasm; plasma membrane; integral to membrane; midbody; caveola
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Molecular Function: heparin binding; cyclin binding; protein binding; hedgehog receptor activity; cholesterol binding; protein complex binding; patched binding; smoothened binding
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Biological Process: heart morphogenesis; hindlimb morphogenesis; epidermis development; regulation of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; glucose homeostasis; response to chlorate; regulation of protein localization; negative regulation of osteoblast differentiation; dorsoventral neural tube patterning; embryonic limb morphogenesis; negative regulation of epithelial cell proliferation; smoothened signaling pathway; negative regulation of multicellular organism growth; pharyngeal system development; negative regulation of transcription factor activity; neural tube patterning; negative regulation of cell division; keratinocyte proliferation; limb morphogenesis; organ morphogenesis; dorsal/ventral pattern formation; ureteric bud branching; negative regulation of smoothened signaling pathway; neural plate pattern formation; neural tube closure; protein processing; brain development; regulation of smoothened signaling pathway
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Reference #:
Q13635 (UniProtKB)
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| 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 |
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Molecular weight: 160,545 Da
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Basal Isoelectric point: 6.42
Predict pI for various phosphorylation states
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CST Pathways:
Hedgehog Signaling
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Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®
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