PTCH1 Gene Summary
This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | PTCH1 |
| Official Name | patched 1 [Source:HGNC Symbol;Acc:HGNC:9585] |
| Ensembl ID | ENSG00000185920 |
| Bio databases IDs | |
| Aliases | patched 1 |
| Synonyms | A230106A15RIK,BCNS,BCNS1,mes,NBCCS,patched 1,PTC,PTC1,PTCH,Ptch2,wig |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- intracellular loop
- cholesterol binding
- smoothened binding
- hedgehog receptor
- protein binding
- cyclin binding
- binding protein
- cytoplasmic domain
- The Eukaryotic (Putative) Sterol Transporter (EST) Family
- transmembrane domain
- extracellular loop
- Sterol-sensing domain of SREBP cleavage-activation
- cytosolic tail domain
- heparin binding
- transmembrane receptor
- patched binding
Pathways
Biological processes and signaling networks where the PTCH1 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- cancer
- epithelial cancer
- epithelial neoplasia
- neoplasia
- papillomatosis
- tumorigenesis
- familial colorectal cancer
- head and neck neoplasia
- sarcoma
role in cell
- expression in
- apoptosis
- activation in
- proliferation
- signaling in
- binding in
- cell death
- inhibition in
- survival
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- motile cilia
- endocytic vesicle membrane
- axon component
- intracellular membrane-bounded organelle
- ciliary tip
- Cytoplasm
- cilia
- cell surface
- Extracellular Space
- apical compartment
- perinuclear region
- cellular membrane
- vesicles
- Golgi Apparatus
- midbody
- postsynaptic membrane
- caveolae
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the PTCH1 gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- positive regulation of epidermal cell differentiation
- somite development
- mammary gland duct morphogenesis
- neural plate axis specification
- mammary gland epithelial cell differentiation
- regulation of smoothened signaling pathway
- dorsal/ventral pattern formation
- heart morphogenesis
- response to retinoic acid
- in utero embryonic development
- positive regulation of transcription, DNA-dependent
- cell fate determination
- dorsal/ventral neural tube patterning
- regulation of protein localization
- smoothened signaling pathway
- negative regulation of sequence-specific DNA binding transcription factor activity
- embryonic organ development
- brain development
- pharyngeal system development
- cell differentiation involved in kidney development
- regulation of mitotic cell cycle
- organ morphogenesis
- epidermal cell fate specification
- negative regulation of stem cell proliferation
- glucose homeostasis
- response to estradiol stimulus
- limb morphogenesis
- protein processing
- prostate gland development
- protein localization in plasma membrane
- negative regulation of multicellular organism growth
- response to xenobiotic stimulus
- response to mechanical stimulus
- negative regulation of osteoblast differentiation
- neural tube patterning
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of keratinocyte proliferation
- embryonic limb morphogenesis
- neural tube closure
- negative regulation of cell division
- cellular response to cholesterol
- stem cell proliferation
- positive regulation of cholesterol efflux
- metanephric collecting duct development
- cell proliferation involved in metanephros development
- hindlimb morphogenesis
- commissural neuron axon guidance
- response to chlorate
- keratinocyte proliferation
- spermatid development
- spinal cord motor neuron differentiation
- smooth muscle tissue development
- negative regulation of smoothened signaling pathway
- branching involved in ureteric bud morphogenesis
cellular COMPONENT
Where in the cell the gene product is active
- dendritic growth cone
- caveola
- perinuclear region of cytoplasm
- apical part of cell
- axonal growth cone
- intracellular membrane-bounded organelle
- Golgi apparatus
- cilium membrane
- midbody
- plasma membrane
- endocytic vesicle membrane
molecular FUNCTION
What the gene product does at the molecular level
- smoothened binding
- protein binding
- cholesterol binding
- hedgehog family protein binding
- hedgehog receptor activity
- heparin binding
- cyclin binding
- patched binding