TAG for PTCH

Gene content

Symbol

PTCH (approved by HUGO)

Name

patched homolog (Drosophila)

Category

Tumor suppressor gene

Alias

BCNS
HPE7
NBCCS
PTC
PTC1
PTCH1
patched

Cytogenetic band

NCBI: 9q22.3 Ensembl: 9q22.32

Protein information

PTC1_HUMAN

Size: 1447 amino acids

Mass: 160561 Da

Subcellular location: Membrane; multi-pass membrane protein

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

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

Similarity:

Belongs to the patched family

Contains 1 SSD (sterol-sensing) domain

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR000731	SSD_5TM	Sterol-sensing 5TM box	Domain
	IPR003392	Patched	Patched	Family
	IPR004766	Patchedtm_recept	Patched transmembrane receptor	Family
Blocks	IPB003392	Patched family	Patched family

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	cell cycle	IEA	GOA
	cell proliferation	TAS	GOA	PubMed
	hedgehog receptor activity	IEA	GOA
	integral to membrane	IEA	GOA
	membrane	IEA	GOA
	negative regulation of progression through cell cycle	IEA	GOA
	protein binding	ISS	GOA
	protein processing	ISS	GOA
	receptor activity	TAS	GOA	PubMed
	regulation of smoothened activity	ISS	GOA
Molecular Function	dorsal/ventral pattern formation	ISS	GOA
	embryonic limb morphogenesis	ISS	GOA
	integral to plasma membrane	TAS	GOA	PubMed
	negative regulation of body size	ISS	GOA
	organ morphogenesis	ISS	GOA
	signal transduction	TAS	GOA	PubMed
	smoothened signaling pathway	ISS	GOA

Disorder & Mutation
Source	Disease
SWISS-PROT	Defects in PTCH are probably the cause of basal cell nevus syndrome (BCNS) [MIM:109400]; also known as Gorlin syndrome or Gorlin-Goltz syndrome. BCNS is an autosomal dominant disease characterized by nevoid basal cell carcinomas (NBCCS) 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 basal cell carcinomas (BCC), fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. PTCH is also mutated in squamous cell carcinoma (SCC). Could also be associated with large body size observed in BCNS patients
SWISS-PROT	Defects in PTCH are a cause of sporadic basal cell carcinoma (BCC) [MIM:605462]

PTCH cross reference