Protein Patched Homolog 1

Preferred Label : Protein Patched Homolog 1;

NCIt synonyms : PTCH; Patched; PTC1; PTC; PTCH1;

NCIt definition : Protein patched homolog 1 (1447 aa, 161 kDa) is encoded by the human PTCH1 gene. This protein is involved in the modulation of hedgehog protein family signaling pathways, embryonic development, and tumor supression.;

NCIt note : Sonic hedgehog binding to protein patched homolog 1 appears to activate the 7-transmembrane protein Smoothened by release from protein patched homolog 1-mediated inhibition. Tumors may be associated with mutations that activate Smoothened or inactivate protein patched homolog 1, causing excess activity of the hedgehog response pathway. (OMIM);

Details

Origin ID

C18605;

UMLS CUI

C4308013;

OMIM relation
- Patched 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Receptor [UMLS semantic type]
UMLS correspondences (same concept)
- PTCH1 protein, human [MeSH Supplementary Concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Ligand Binding Protein Gene [NCIt concept]
- PTCH1 Gene [NCIt concept]
- Receptor Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
gene_product_has_biochemical_function
- Cell Surface Receptor [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_gene_product_variant
- PTCH1 NP_000255.2:p.T1195S [NCIt concept]
- PTCH1 NP_000255.2:p.W844C [NCIt concept]
- PTCH1 Protein Variant [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Axon Guidance Pathway [NCIt concept]
- Basal Cell Carcinoma Pathway [NCIt concept]
- Hedgehog Signaling Pathway [NCIt concept]
- Ptc1 Regulation of Cell Cycle Pathway [NCIt concept]
- Sonic Hedgehog Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Embryogenesis [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients