InnateDB Protein
|
IDBP-375907.5
|
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
|
ENSP00000389744
|
InnateDB Gene
|
IDBG-77092 (PTCH1)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000731
Sterol-sensing domain
IPR003392
Patched
IPR004766
Transmembrane receptor, patched
|
PFAM |
PF02460
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q13635
|
PhosphoSite |
PhosphoSite-Q13635
|
TrEMBL |
Q6TKQ0
|
UniProt Splice Variant |
|
Entrez Gene |
5727
|
UniGene |
Hs.494538
|
RefSeq |
NP_001077071
|
HUGO |
HGNC:9585
|
OMIM |
601309
|
CCDS |
CCDS47996
|
HPRD |
03200
|
IMGT |
|
EMBL |
AB189436
AB189437
AB189438
AB189439
AB189440
AB239329
AL161729
AY395757
AY395758
BC043542
U43148
U59464
|
GenPept |
AAC50496
AAC50550
AAH43542
AAR21238
BAD74184
BAD74185
BAD74186
BAD74187
BAD74188
BAF47712
CAH73817
CAH73818
|
|
|