PTCH1
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.
Function
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.
Involvement in disease
Basal cell nevus syndrome 1
BCNS1
A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. BCNS1 inheritance is autosomal dominant.
None
The disease may be caused by variants affecting the gene represented in this entry.
Basal cell carcinoma
BCC
A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.
None
The disease is caused by variants affecting the gene represented in this entry.
Holoprosencephaly 7
HPE7
A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylation is necessary for SHH binding.
In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation.
Sequence Similarities
Belongs to the patched family.
Tissue Specificity
In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
PTCH, PTCH1, Protein patched homolog 1, PTC, PTC1
Database links
swissprot:Q13635 omim:601309 swissprot:Q86XG7 entrezGene:5727