InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PTCH1

Summary

InnateDB Protein

IDBP-375928.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PTCH1

Protein Name

patched 1

Synonyms

BCNS; HPE7; NBCCS; PTC; PTC1; PTCH; PTCH11;

Species

Homo sapiens

Ensembl Protein

ENSP00000396135

InnateDB Gene

IDBG-77092 (PTCH1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:21537345}.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Basal cell nevus syndrome (BCNS) [MIM:109400]: An autosomal dominant 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 basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. {ECO:0000269PubMed:11231326, ECO:0000269PubMed:15459969, ECO:0000269PubMed:8840969, ECO:0000269PubMed:8981943, ECO:0000269PubMed:9620294}. Note=The disease may be caused by mutations affecting the gene represented in this entry.Basal cell carcinoma (BCC) [MIM:605462]: 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. {ECO:0000269PubMed:8658145, ECO:0000269PubMed:9620294}. Note=The disease is caused by mutations affecting the gene represented in this entry.Holoprosencephaly 7 (HPE7) [MIM:610828]: 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. {ECO:0000269PubMed:11941477, ECO:0000269PubMed:17001668, ECO:0000269PubMed:17096318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.

Experimentally validated
Total	24 [view]
Protein-Protein	22 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005119	smoothened binding
GO:0005515	protein binding
GO:0008158	hedgehog receptor activity
GO:0015485	cholesterol binding
GO:0030332	cyclin binding
GO:0097108	hedgehog family protein binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0007224	smoothened signaling pathway
GO:0007420	brain development
GO:0008589	regulation of smoothened signaling pathway
GO:0009887	organ morphogenesis
GO:0009953	dorsal/ventral pattern formation
GO:0010875	positive regulation of cholesterol efflux
GO:0016485	protein processing
GO:0021532	neural tube patterning
GO:0021997	neural plate axis specification
GO:0030326	embryonic limb morphogenesis
GO:0035108	limb morphogenesis
GO:0040015	negative regulation of multicellular organism growth
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045087	innate immune response (InnateDB)
GO:0045668	negative regulation of osteoblast differentiation
GO:0045879	negative regulation of smoothened signaling pathway
GO:0060037	pharyngeal system development
GO:0061053	somite development
GO:0071397	cellular response to cholesterol
GO:0072001	renal system development
GO:0072661	protein targeting to plasma membrane

Cellular Component

GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005901	caveola
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0048471	perinuclear region of cytoplasm