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 |
|---|---|---|---|---|---|
| patched 1 | MIM:601309 | Ensembl:ENSG00000185920 | HGNC:HGNC:9585 | PA33937 | 9q22.32 |
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 |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0030496 | midbody |
| CC | TAS | GO:0030666 | endocytic vesicle membrane |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IEA | GO:0044294 | dendritic growth cone |
| CC | IEA | GO:0044295 | axonal growth cone |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| CC | TAS | GO:0060170 | ciliary membrane |
| BP | IMP | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001658 | branching involved in ureteric bud morphogenesis |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001709 | cell fate determination |
| BP | IEA | GO:0001843 | neural tube closure |
| BP | IEA | GO:0003007 | heart morphogenesis |
| BP | IBA | GO:0007224 | smoothened signaling pathway |
| BP | IEP | GO:0007224 | smoothened signaling pathway |
| BP | ISS | GO:0007224 | smoothened signaling pathway |
| BP | IEA | GO:0007346 | regulation of mitotic cell cycle |
| BP | ISS | GO:0007420 | brain development |
| BP | ISS | GO:0008589 | regulation of smoothened signaling pathway |
| BP | IEA | GO:0009612 | response to mechanical stimulus |
| BP | ISS | GO:0009887 | animal organ morphogenesis |
| BP | ISS | GO:0009953 | dorsal/ventral pattern formation |
| BP | IEA | GO:0009957 | epidermal cell fate specification |
| BP | IEA | GO:0010157 | response to chlorate |
| BP | IDA | GO:0010875 | positive regulation of cholesterol efflux |
| BP | ISS | GO:0016485 | protein processing |
| BP | IEA | GO:0021522 | spinal cord motor neuron differentiation |
| BP | IMP | GO:0021532 | neural tube patterning |
| BP | ISS | GO:0021997 | neural plate axis specification |
| BP | ISS | GO:0030326 | embryonic limb morphogenesis |
| BP | IEA | GO:0030850 | prostate gland development |
| BP | IEA | GO:0032355 | response to estradiol |
| BP | IEA | GO:0032526 | response to retinoic acid |
| BP | IEA | GO:0032880 | regulation of protein localization |
| BP | IMP | GO:0035108 | limb morphogenesis |
| BP | IEA | GO:0035137 | hindlimb morphogenesis |
| BP | ISS | GO:0040015 | negative regulation of multicellular organism growth |
| BP | IEA | GO:0042493 | response to drug |
| BP | IEA | GO:0042593 | glucose homeostasis |
| BP | IMP | GO:0043433 | negative regulation of DNA-binding transcription factor activity |
| BP | IEA | GO:0043616 | keratinocyte proliferation |
| BP | IEA | GO:0045606 | positive regulation of epidermal cell differentiation |
| BP | IMP | GO:0045668 | negative regulation of osteoblast differentiation |
| BP | ISS | GO:0045879 | negative regulation of smoothened signaling pathway |
| BP | TAS | GO:0045879 | negative regulation of smoothened signaling pathway |
| BP | IEA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IEA | GO:0048568 | embryonic organ development |
| BP | IEA | GO:0050680 | negative regulation of epithelial cell proliferation |
| BP | IEA | GO:0051782 | negative regulation of cell division |
| BP | IMP | GO:0060037 | pharyngeal system development |
| BP | IEA | GO:0060603 | mammary gland duct morphogenesis |
| BP | IEA | GO:0060644 | mammary gland epithelial cell differentiation |
| BP | IEA | GO:0060831 | smoothened signaling pathway involved in dorsal/ventral neural tube patterning |
| BP | IEA | GO:0061005 | cell differentiation involved in kidney development |
| BP | IMP | GO:0061053 | somite development |
| BP | IMP | GO:0071397 | cellular response to cholesterol |
| BP | ISS | GO:0071397 | cellular response to cholesterol |
| BP | IEA | GO:0071679 | commissural neuron axon guidance |
| BP | IEP | GO:0072001 | renal system development |
| BP | IEA | GO:0072203 | cell proliferation involved in metanephros development |
| BP | IDA | GO:0072659 | protein localization to plasma membrane |
| BP | IEA | GO:0097421 | liver regeneration |
| MF | IEA | GO:0005113 | patched binding |
| MF | IBA | GO:0005119 | smoothened binding |
| MF | IPI | GO:0005119 | smoothened binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008158 | hedgehog receptor activity |
| MF | IEA | GO:0008158 | hedgehog receptor activity |
| MF | IEA | GO:0008201 | heparin binding |
| MF | IDA | GO:0015485 | cholesterol binding |
| MF | IPI | GO:0030332 | cyclin binding |
| MF | IEA | GO:0044877 | protein-containing complex binding |
| MF | IBA | GO:0097108 | hedgehog family protein binding |
| MF | IPI | GO:0097108 | hedgehog family protein binding |
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) |
| kegg | hsa04360 | Axon guidance - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05205 | Proteoglycans in cancer - Homo sapiens (human) |
| kegg | hsa05217 | Basal cell carcinoma - Homo sapiens (human) |
| wikipathways | WP2804 | Hair Follicle Development- Induction (Part 1 of 3) |
| wikipathways | WP3313 | Hedgehog ,on, state |
| wikipathways | WP3316 | Hedgehog ,off, state |
| wikipathways | WP3930 | EDA Signalling in Hair Follicle Development |
| wikipathways | WP4204 | Tumor suppressor activity of SMARCB1 |
| wikipathways | WP4249 | Hedgehog Signaling Pathway |
| wikipathways | WP47 | Hedgehog Signaling Pathway |
| wikipathways | WP474 | Endochondral Ossification |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-373080 | Class B/2 (Secretin family receptors) |
| reactome | R-HSA-500792 | GPCR ligand binding |
| reactome | R-HSA-5358351 | Signaling by Hedgehog |
| reactome | R-HSA-5358351 | Signaling by Hedgehog |
| reactome | R-HSA-5610787 | Hedgehog 'off' state |
| reactome | R-HSA-5632681 | Ligand-receptor interactions |
| reactome | R-HSA-5632681 | Ligand-receptor interactions |
| reactome | R-HSA-5632684 | Hedgehog 'on' state |
| reactome | R-HSA-5632684 | Hedgehog 'on' state |
| reactome | R-HSA-5635838 | Activation of SMO |
| biocarta | ptc1pathway | sonic hedgehog receptor ptc1 regulates cell cycle |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD544 | Vismodegib (GDC-0449) | 12 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD322 | FK 866 | 2 |
| iGMDRD886 | Compound 1541A | 11 |
| iGMDRD300 | Tozasertib | 2 |
| iGMDRD552 | AZD-1775 | 1 |
| iGMDRD147 | Prima-1 | 1 |
| iGMDRD121 | GMX1778 | 7 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD1006 | SMO inhibitor | 1 |
| iGMDRD105 | Triptolide | 1 |
| iGMDRD351 | GW843682X | 5 |
| iGMDRD57 | Chloropentafluorobenzene | 3 |
| iGMDRD219 | Bax channel blocker | 5 |
| iGMDRD154 | NSC23766 | 1 |
| iGMDRD584 | VER 155008 | 1 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD48 | Dexamethasone | 3 |
| iGMDRD424 | Tamatinib | 9 |
| iGMDRD577 | BIX01294 | 6 |
| iGMDRD506 | Fedratinib | 3 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD188 | Piperlongumine | 5 |
| iGMDRD887 | Compound 23 citrate | 6 |
| iGMDRD602 | Foretinib | 2 |
| iGMDRD992 | QL-VIII-58 | 1 |
| iGMDRD802 | 4-methylfasudil | 5 |
| iGMDRD255 | SB225002 | 4 |
| iGMDRD270 | Ciclosporin | 2 |
| iGMDRD474 | Avrainvillamide | 3 |
| iGMDRD318 | PAC-1 | 8 |
| iGMDRD441 | TW 37 | 3 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD171 | Pemetrexed | 1 |
| iGMDRD782 | DC-45-A2 | 3 |
| iGMDRD61 | Kinetin riboside | 12 |
| iGMDRD152 | 179324-69-7 | 6 |
| iGMDRD679 | Bistramide A | 3 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD579 | PF750 | 1 |
| iGMDRD126 | Tipifarnib | 6 |
| iGMDRD76 | Simvastatin | 3 |
| iGMDRD542 | Erismodegib | 6 |
| iGMDRD781 | Sirolimus | 6 |
| iGMDRD144 | NSC95397 | 3 |
| iGMDRD546 | BMS-754807 | 4 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PTCH1
CLASSFICATION
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