PTCH1 Gene: Patched 1, Sonic Hedgehog Receptor
Key tumor suppressor in the Hedgehog signaling pathway; mutations linked to basal cell carcinoma, medulloblastoma, and Gorlin syndrome.
Gene Information Card
| Symbol | PTCH1 |
|---|---|
| Full Name | Patched 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.32 |
| NCBI Gene ID | 5727 ncbi.nlm.nih.gov/gene/5727 |
| Ensembl ID | ENSG00000185920 |
| UniProt ID | Q13635 |
| OMIM ID | 601309 |
| HGNC ID | 9585 |
| Aliases | PTC, PTCH, BCNS, HPE7, NBCCS, PTC1, PTCH11, SPM |
Description
PTCH1 (Patched 1) encodes a transmembrane receptor for Sonic Hedgehog (SHH). It functions as a tumor suppressor by inhibiting the Smoothened (SMO) protein in the absence of SHH ligand. Loss-of-function mutations lead to constitutive activation of the Hedgehog signaling pathway, driving uncontrolled cell proliferation and tumorigenesis. PTCH1 is the primary gene mutated in nevoid basal cell carcinoma syndrome (Gorlin syndrome) and is frequently altered in sporadic basal cell carcinoma and medulloblastoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Basal cell carcinoma (sporadic) | Loss-of-function mutations in PTCH1 lead to constitutive SMO activation and Hedgehog pathway signaling, promoting tumor growth. | ClinVar, COSMIC |
| Nevoid basal cell carcinoma syndrome (Gorlin syndrome) | Germline loss-of-function mutations in PTCH1 cause autosomal dominant predisposition to multiple basal cell carcinomas, odontogenic keratocysts, and skeletal anomalies. | OMIM #109400, ClinVar |
| Medulloblastoma (SHH subtype) | Somatic PTCH1 mutations or deletions result in Hedgehog pathway activation, a hallmark of the SHH subgroup of medulloblastoma. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.2 | High expression; relevant for skin biology |
| DAOY (medulloblastoma) | 9.8 | Moderate expression; SHH subtype model |
| HEK293 | 4.1 | Low expression; baseline control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2561G>A (p.Trp854*) | Nonsense | <1% in general population; common in BCC | Loss of function; truncation of C-terminal domain |
| c.349C>T (p.Arg117*) | Nonsense | <1% in general population; germline in Gorlin syndrome | Loss of function; premature stop codon |
| c.1348-1G>A | Splice site | <1% | Loss of function; aberrant splicing |
| c.3944T>C (p.Leu1315Pro) | Missense | <0.1% | Loss of function; disrupts transmembrane domain |
Mutation functional classification
Loss of Function (LOF)
Most PTCH1 mutations are loss-of-function (nonsense, frameshift, splice site, or missense) that impair receptor function, leading to constitutive Hedgehog pathway activation.
Gain of Function (GOF)
Not described; PTCH1 is a tumor suppressor and gain-of-function mutations are not reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type PTCH1 function, though this is less common than haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (KEGG hsa04340)
• Signaling by Hedgehog (Reactome R-HSA-5358351)
• Developmental Biology (Reactome R-HSA-1266738)
Protein Summary
PTCH1 is a 12-pass transmembrane protein that acts as the receptor for Sonic Hedgehog (SHH). In the absence of SHH, PTCH1 inhibits Smoothened (SMO), preventing pathway activation. Upon SHH binding, PTCH1 internalizes and SMO is released, initiating a signaling cascade that regulates gene expression. PTCH1 is essential for embryonic patterning and tissue homeostasis. Loss of PTCH1 function is oncogenic, particularly in skin and brain tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTCH1 Knockout HEK293 Cell Line | EDJ-KQ910 | Human | 5727 | Details Get a Quote |
| PTCH1 Knockout HCT 116 Cell Line | EDJ-KQ18421 | Human | 5727 | Details Get a Quote |
| PTCH1 Knockout A-549 Cell Line | EDJ-KQ19764 | Human | 5727 | Details Get a Quote |
| PTCH1 Knockout HeLa Cell Line | EDJ-KQ19766 | Human | 5727 | Details Get a Quote |
| PTCH1 (p.G43E) Point Mutation in HAP1 Cell Line | EDC03585 | Human | 5727 | Details Get a Quote |
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