NP_032983.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
protein patched homolog 1
NCBI Official Synonym Full Names
patched homolog 1
NCBI Official Synonym Symbols
Ptc; mes; Ptc1; Ptch; A230106A15Rik [Similar Products]
NCBI Protein Information
protein patched homolog 1; Patched 1; Ptch1 protein +12b; mesenchymal dysplasia
UniProt Protein Name
Protein patched homolog 1
UniProt Synonym Gene Names
UniProt Entry Name
PTC1_MOUSE
UniProt Comments for PTCH1
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.
Protein type: Tumor suppressor; Membrane protein, multi-pass; Membrane protein, integral; Cell cycle regulation
Cellular Component: Golgi apparatus; membrane; intracellular membrane-bound organelle; integral to plasma membrane; perinuclear region of cytoplasm; postsynaptic density; extracellular region; integral to membrane; plasma membrane; caveola; midbody
Molecular Function: heparin binding; protein binding; cyclin binding; zinc ion binding; hedgehog receptor activity; cholesterol binding; protein complex binding; patched binding; smoothened binding
Biological Process: heart morphogenesis; hindlimb morphogenesis; epidermis development; regulation of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; cell fate determination; glucose homeostasis; signal transduction; response to chlorate; negative regulation of cell proliferation; regulation of protein localization; mammary gland development; regulation of growth; negative regulation of osteoblast differentiation; dorsoventral neural tube patterning; negative regulation of epithelial cell proliferation; embryonic limb morphogenesis; smoothened signaling pathway; epidermal cell fate specification; negative regulation of multicellular organism growth; pharyngeal system development; in utero embryonic development; negative regulation of transcription factor activity; neural tube patterning; negative regulation of cell division; keratinocyte proliferation; spinal cord motor neuron differentiation; limb morphogenesis; pattern specification process; regulation of cell proliferation; organ morphogenesis; dorsal/ventral pattern formation; ureteric bud branching; neural plate pattern formation; negative regulation of smoothened signaling pathway; positive regulation of epidermal cell differentiation; neural tube closure; embryonic organ development; protein processing; brain development; neural tube formation; regulation of smoothened signaling pathway
Research Articles on PTCH1
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Pathways associated with PTCH1 recombinant protein
Diseases associated with PTCH1 recombinant protein
Organs/Tissues associated with PTCH1 recombinant protein
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