Patched Homolog 1 (PTCH1)

PTC; BCNS; HPE7; NBCCS; PTC1; PTCH

SPN	N392
HGNC	9585
MGI	105373
PubMed	24335643
RGD	621425
UniProt	Q13635
Wiki	PTCH1

PTCH1 encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor.

Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.

Reference

"Human homolog of patched, a candidate gene for the basal cell nevus syndrome."
Science 272:1668-1671(1996) [PubMed] [Europe PMC] [Abstract]

"A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities."
J. Biol. Chem. 271:12125-12128(1996) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 9."
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

"Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons."
Genomics 85:462-471(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Distinct roles of first exon variants of the tumor-suppressor Patched1 in Hedgehog signaling."
Oncogene 26:4889-4896(2007) [PubMed] [Europe PMC] [Abstract]

"Functions of sorting nexin 17 domains and recognition motif for P-selectin trafficking."
J. Mol. Biol. 347:813-825(2005) [PubMed] [Europe PMC] [Abstract]

"Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels."
Cell Res. 21:1343-1357(2011) [PubMed] [Europe PMC] [Abstract]

"Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients."
Cancer Res. 56:4599-4601(1996) [PubMed] [Europe PMC] [Abstract]

"Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident."
Am. J. Hum. Genet. 60:21-26(1997) [PubMed] [Europe PMC] [Abstract]

"Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome."
Hum. Genet. 100:497-502(1997) [PubMed] [Europe PMC] [Abstract]

"Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene."
Hum. Mutat. 11:480-480(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome."
J. Invest. Dermatol. 110:885-888(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of PATCHED mutations in medulloblastomas by direct sequencing."
Hum. Mutat. 16:89-90(2000) [PubMed] [Europe PMC] [Abstract]

"Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer."
J. Invest. Dermatol. 116:472-474(2001) [PubMed] [Europe PMC] [Abstract]

"PTCH mutations in squamous cell carcinoma of the skin."
J. Invest. Dermatol. 116:614-616(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly."
Hum. Genet. 110:297-301(2002) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Genet. 111:464-464(2002)

"Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles."
Hum. Mutat. 24:441-441(2004) [PubMed] [Europe PMC] [Abstract]

"GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?"
Am. J. Med. Genet. A 140:2571-2576(2006) [PubMed] [Europe PMC] [Abstract]

"PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI."
Am. J. Med. Genet. A 140:2584-2586(2006) [PubMed] [Europe PMC] [Abstract]