PTCH1
Summary: This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. 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. [provided by RefSeq, Aug 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namepatched 1 OMIM IDMIM:601309 Ensembl IDEnsembl:ENSG00000185920 HGNC IDHGNC:HGNC:9585 PHARMGKB IDPA33937 Map Location9q22.32 | |||||
GO terms in PTCH1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005634 | nucleus |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005901 | caveola |
| CC | IEA | GO:0014069 | postsynaptic density |
Gene expression in normal tissue: PTCH1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PTCH1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| netpath | Pathway_Hedgehog | Hedgehog |
| pid | glypican_3pathway | Glypican 3 network |
| pid | hedgehog_2pathway | Signaling events mediated by the Hedgehog family |
| pid | hedgehog_glipathway | Hedgehog signaling events mediated by Gli proteins |
| kegg | hsa04024 | cAMP signaling pathway - Homo sapiens (human) |
| kegg | hsa04340 | Hedgehog signaling pathway - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PTCH1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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