Biomarker: Patched-1

Histology type: endometrial carcinoma

Region: Thessaloniki

Followed up time :

Conclusion: Aberrant expression of key components of the Notch and Hedgehog signaling pathways, as well as MMRd may serve as independent prognostic factors for recurrence and survival in patients with endometrial cancer.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : positive (range 3–12)

Expression elevation: Staining intensity for Notch2, Notch3 and Jag1 was scored into four grades (0, 1+, 2+ and 3+), while the percentage of positive cells was also scored into four categories (0 for 0%, 1 for 1–33%, 2 for >33–66% and 3 for >66–100%). The product of intensity and percentage categories (range 0–9) was finally classified as negative (0–4) and positive (5–9) . Similarly, for Gli, Patched-1, Shh and Smo, intensity was scored into four grades (0, 1+, 2+ and 3+), while the percentage of positive cells was scored into five categories (0 for <5%, 1 for 5–25%, 2 for >25–50%, 3 for >50–75% and 4 for >75%). The product of the intensity and percentage categories (range 0–12) was used as the final score and classified as negative (0–2) and positive (3–12).

Statictics: Mean;Range

Cohort age: 63.9;29–87

Funtion Uniprot: 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's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.1 Publication

UniProt ID: Q13635

UniProt Link: https://www.uniprot.org/uniprotkb/Q13635/entry

Molecular function from UniProt:

Tissue specificity from UniProt: In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.

Recommended name: Protein patched homolog 1

Gene name from HGNC: PTCH1 (BCNS, NBCCS, PTCH)

HPA class: Cancer-related genes Disease related genes Human disease related genes Potential drug targets Transporters

AlphaFold DB: Q13635

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q13635

Developmental stage: 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.

HPA link: https://www.proteinatlas.org/search/Protein+patched+homolog+1

Tissue specificity RNA from HPA: Tissue enhanced (cervix)

Tissue expression from HPA: Cytoplasmic expression in most tissues.

Single cell type specificity Cell type enhanced (Peritubular cells, Late spermatids, Leydig cells)

Immune cell specificity: Immune cell enhanced (gdT-cell)

Subcellular summary HPA Located in Golgi apparatus

Cancer prognostic summary HPA Gene product is not prognostic

Pathology link: https://www.proteinatlas.org/ENSG00000185920-PTCH1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000185920-PTCH1/pathology/endometrial+cancer

Expression figure legend: Characteristic examples of negative and positive protein markers with IHC.

Expression figure link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283658/figure/pone.0208221.g002/

Survival figure legend: Evaluation of the Hedgehog pathway activation patterns.

Survival curve link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283658/figure/pone.0208221.g004/

Phenotype ID: 109400；605462；610828

Disease: Basal cell nevus syndrome (BCNS)；Basal cell carcinoma (BCC)；Holoprosencephaly 7 (HPE7)；

Note1: The disease may be caused by variants affecting the gene represented in this entry；The disease is caused by variants affecting the gene represented in this entry；The disease is caused by variants affecting the gene represented in this entry；

OMIM: 601309

OMIM link1: https://www.omim.org/entry/109400 ；https://www.omim.org/entry/605462；https://www.omim.org/entry/610828；

OMIM link2: https://www.omim.org/entry/601309

HGNC ID: HGNC:9585

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9585