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Protein Page:
PTCH1 (human)
p Phosphorylation
a Acetylation
m Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
u Ubiquitination
s Sumoylation
n Neddylation
gl O-GlcNAc
ga O-GalNAc
h Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage

Overview
PTCH1 a multi-pass membrane protein member of the ?patched? family that 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 protein?s signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. Interacts with SNX17. Expressed in tumor cells but not in normal skin. 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. Defects in PTCH1 are the cause of basal cell nevus syndrome (BCNS), also known as Gorlin syndrome. BCNS is 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. PTCH1 defects is also the cause of holoprosencephaly, the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Cell cycle regulation
Cellular Component: Golgi apparatus; intracellular membrane-bound organelle; perinuclear region of cytoplasm; postsynaptic density; integral to membrane; plasma membrane; midbody; caveola
Molecular Function: heparin binding; cyclin binding; protein binding; hedgehog receptor activity; cholesterol binding; protein complex binding; patched binding; smoothened binding
Biological Process: heart morphogenesis; hindlimb morphogenesis; epidermis development; regulation of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; glucose homeostasis; response to estradiol stimulus; response to chlorate; regulation of protein localization; negative regulation of osteoblast differentiation; embryonic limb morphogenesis; negative regulation of epithelial cell proliferation; response to drug; smoothened signaling pathway; pharyngeal system development; negative regulation of multicellular organism growth; response to retinoic acid; negative regulation of transcription factor activity; neural tube patterning; negative regulation of cell division; keratinocyte proliferation; spinal cord motor neuron differentiation; limb morphogenesis; organ morphogenesis; dorsal/ventral pattern formation; ureteric bud branching; response to mechanical stimulus; neural plate pattern formation; negative regulation of smoothened signaling pathway; neural tube closure; protein processing; brain development; regulation of smoothened signaling pathway
Reference #:  Q13635 (UniProtKB)
Alt. Names/Synonyms: BCNS; FLJ26746; FLJ42602; HPE7; NBCCS; patched homolog 1 (Drosophila); Protein patched homolog 1; PTC; PTC1; PTCH; PTCH protein +12b; PTCH protein +4'; PTCH protein -10; PTCH1; PTCH11
Gene Symbols: PTCH1
Molecular weight: 160,545 Da
Basal Isoelectric point: 6.42  Predict pI for various phosphorylation states
CST Pathways:  Hedgehog Signaling
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
Select Structure to View Below

PTCH1

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 1 K163-u QLMIQTPkEEGANVL
0 1 Y873-p GKIMPNNyKNGSDDG
0 1 Y884-p SDDGVLAyKLLVQTG
0 3 T1195-p NGLNRLPtPsPEPPP
0 3 S1197-p LNRLPtPsPEPPPSV
  PTCH1 iso2  
K162 QLMIQTPKEEGANVL
Y872 GKIMPNNYKNGSDDG
Y883 SDDGVLAYKLLVQTG
T1194 NGLNRLPTPSPEPPP
S1196 LNRLPTPSPEPPPSV
  mouse

 
K149 QLMIQTPKEEGANVL
Y859 GRIMPNNYKNGSDDG
Y870 SDDGVLAYKLLVQTG
T1181-p NGLNRLPtPsPEPPP
S1183-p LNRLPtPsPEPPPSV
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