patched 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEmbryonal tumour of possible germline origin
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial Tumours Syndromes of the central & peripheral Nervous system
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+15 more panels — install the extension to see the full list inline on any page.
nevoid basal cell carcinoma syndrome
holoprosencephaly
basal cell carcinoma
medulloblastoma
Inherited cancer-predisposing syndrome
hereditary neoplastic syndrome
Abnormality of the skeletal system
hereditary disease
major depressive disorder
intelligence
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein patched homolog 1
Negative regulator of the smoothened signaling pathway, which acts as a receptor for hedgehog (SHH, IHH and DHH) morphogens (PubMed:21537345, PubMed:29954986, PubMed:29995851, PubMed:30139912, PubMed:31127104, PubMed:31555730, PubMed:37611095, PubMed:40128518, PubMed:9811851). In absence of hedgehog, acts as an inhibitor of smoothened protein (SMO) by preventing SMO access to cholesterol: mechanistically, acts as a cholesterol transporter, which depeletes cholesterol from the outer leaflet of plasma membrane, thereby preventing cholesterol-binding to the extracellular CRD region of SMO (PubMed:31555730, PubMed:37611095). Hedgehog-binding inhibits PTCH1 cholesterol transporter activity, promoting SMO activation by cholesterol and transduction of the smoothened signaling pathway (PubMed:31548691). Molecular mechanism governing cholesterol transport are still unclear: may move cholesterol from the outer to the inner leaflet of the membrane in exchange for potassium or sodium ion export in the opposite direction (PubMed:37611095). Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis (PubMed:8658145)
Curated MONDO disease pages that list PTCH1 among their top associated genes.
PTCH1 · Q13635
Mean pLDDT
73.9/ 100
Confident
1,447 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
