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Ask your administrator if you think this is wrong. ======= PTCH1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: PTCH1 * **<color #00a2e8>Official Name</color>**: patched 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5727|5727]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13635|Q13635]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PTCH1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PTCH1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601309|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Sterol-sensing| |Patched| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |neural plate axis specification| |response to chlorate| |smoothened binding| |hedgehog receptor activity| |hedgehog family protein binding| |epidermal cell fate specification| |neural plate pattern specification| |smoothened signaling pathway involved in dorsal/ventral neural tube patterning| |cell proliferation involved in metanephros development| |patched binding| |dendritic growth cone| |keratinocyte proliferation| |neural plate development| |cell proliferation involved in kidney development| |negative regulation of multicellular organism growth| |commissural neuron axon guidance| |positive regulation of cholesterol efflux| |negative regulation of cell division| |cellular response to cholesterol| |dorsal/ventral neural tube patterning| |mammary gland epithelial cell differentiation| |cellular response to sterol| |positive regulation of sterol transport| |positive regulation of cholesterol transport| |regulation of cholesterol efflux| |positive regulation of epidermal cell differentiation| |response to cholesterol| |pharyngeal system development| |axonal growth cone| |cyclin binding| |response to sterol| |negative regulation of smoothened signaling pathway| |liver regeneration| |mammary gland duct morphogenesis| |neural tube patterning| |spinal cord motor neuron differentiation| |hindlimb morphogenesis| |embryonic axis specification| |cell fate determination| |positive regulation of epidermis development| |prostate gland development| |cell differentiation involved in kidney development| |negative regulation of osteoblast differentiation| |mammary gland morphogenesis| |branching involved in ureteric bud morphogenesis| |regulation of cholesterol transport| |regulation of sterol transport| |ventral spinal cord development| |cholesterol binding| |ureteric bud morphogenesis| |cell differentiation in spinal cord| |mesonephric tubule morphogenesis| |ciliary membrane| |mammary gland epithelium development| |positive regulation of epithelial cell differentiation| |positive regulation of lipid transport| |regulation of epidermal cell differentiation| |embryonic pattern specification| |nephron tubule morphogenesis| |regulation of multicellular organism growth| |nephron epithelium morphogenesis| |nephron morphogenesis| |renal tubule morphogenesis| |endocytic vesicle membrane| |smoothened signaling pathway| |animal organ regeneration| |negative regulation of ossification| |caveola| |nephron tubule development| |regulation of smoothened signaling pathway| |renal tubule development| |dorsal/ventral pattern formation| |positive regulation of lipid localization| |somite development| |metanephros development| |kidney morphogenesis| |cellular response to alcohol| |axis specification| |regulation of epidermis development| |ureteric bud development| |mesonephric tubule development| |epithelial cell proliferation| |mesonephric epithelium development| |cell fate specification| |neural tube closure| |mesonephros development| |tube closure| |nephron epithelium development| |primary neural tube formation| |gland morphogenesis| |negative regulation of developmental growth| |neural tube formation| |spinal cord development| |regulation of lipid transport| |response to retinoic acid| |regulation of osteoblast differentiation| |embryonic epithelial tube formation| |nephron development| |negative regulation of epithelial cell proliferation| |embryonic appendage morphogenesis| |embryonic limb morphogenesis| |liver development| |mammary gland development| |hepaticobiliary system development| |kidney epithelium development| |branching morphogenesis of an epithelial tube| |epithelial tube formation| |response to estradiol| |regulation of lipid localization| |regulation of epithelial cell differentiation| |morphogenesis of embryonic epithelium| |tube formation| |limb morphogenesis| |appendage morphogenesis| |regeneration| |midbody| |protein processing| |morphogenesis of a branching epithelium| |neural tube development| |negative regulation of DNA-binding transcription factor activity| |regulation of cell division| |morphogenesis of a branching structure| |heparin binding| |central nervous system neuron differentiation| |limb development| |appendage development| |protein localization to plasma membrane| |glucose homeostasis| |carbohydrate homeostasis| |regulation of ossification| |response to mechanical stimulus| |protein maturation| |protein localization to cell periphery| |response to alcohol| |negative regulation of growth| |cell fate commitment| |heart morphogenesis| |postsynaptic density| |axon guidance| |neuron projection guidance| |protein-containing complex binding| |kidney development| |renal system development| |epithelial tube morphogenesis| |epidermal cell differentiation| |urogenital system development| |regulation of developmental growth| |regionalization| |regulation of epithelial cell proliferation| |response to acid chemical| |axonogenesis| |in utero embryonic development| |axon development| |gland development| |epidermis development| |reproductive structure development| |regulation of DNA-binding transcription factor activity| |reproductive system development| |cell morphogenesis involved in neuron differentiation| |morphogenesis of an epithelium| |embryonic organ development| |pattern specification process| |neuron projection morphogenesis| |protein localization to membrane| |plasma membrane bounded cell projection morphogenesis| |cell projection morphogenesis| |cell part morphogenesis| |cellular response to lipid| |heart development| |response to inorganic substance| |cellular response to organic cyclic compound| |chemotaxis| |taxis| |cell population proliferation| |cell morphogenesis involved in differentiation| |tissue morphogenesis| |embryonic morphogenesis| |regulation of mitotic cell cycle| |chordate embryonic development| |embryo development ending in birth or egg hatching| |tube morphogenesis| |neuron projection development| |developmental process involved in reproduction| |regulation of growth| |negative regulation of cell population proliferation| |epithelial cell differentiation| |intracellular membrane-bounded organelle| |perinuclear region of cytoplasm| |negative regulation of cell differentiation| |cell morphogenesis| |brain development| |head development| |neuron development| |cellular component morphogenesis| |tube development| |response to lipid| |negative regulation of transcription by RNA polymerase II| |circulatory system development| |anatomical structure formation involved in morphogenesis| |response to hormone| |response to organic cyclic compound| |negative regulation of developmental process| |animal organ morphogenesis| |positive regulation of cell differentiation| |embryo development| |central nervous system development| |Golgi apparatus| |positive regulation of transport| |neuron differentiation| |response to drug| |regulation of protein localization| |cellular response to oxygen-containing compound| |chemical homeostasis| |epithelium development| |plasma membrane bounded cell projection organization| |negative regulation of molecular function| |response to abiotic stimulus| |cell projection organization| |regulation of cell cycle| |negative regulation of transcription, DNA-templated| |negative regulation of multicellular organismal process| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |negative regulation of signal transduction| |proteolysis| |locomotion| |negative regulation of RNA metabolic process| |negative regulation of cell communication| |negative regulation of signaling| |positive regulation of developmental process| |negative regulation of cellular macromolecule biosynthetic process| |reproductive process| |reproduction| |negative regulation of nucleobase-containing compound metabolic process| |negative regulation of macromolecule biosynthetic process| |response to endogenous stimulus| |negative regulation of cellular biosynthetic process| |generation of neurons| |positive regulation of transcription, DNA-templated| |negative regulation of biosynthetic process| |movement of cell or subcellular component| |response to oxygen-containing compound| |cellular protein localization| |cellular macromolecule localization| |regulation of cell population proliferation| |negative regulation of response to stimulus| |neurogenesis| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |homeostatic process| |cell development| |negative regulation of gene expression| |positive regulation of RNA metabolic process| |tissue development| |regulation of cell differentiation| |regulation of transport| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |gene expression| |positive regulation of biosynthetic process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp108|Vinblastine 0.2μM R03 exp108]]|-2.22| |[[:results:exp375|Lenalidomide 20μM R07 exp375]]|-2.08| |[[:results:exp481|Ethambutol 25μM R08 exp481]]|-1.73| |[[:results:exp219|A-395N 10μM R05 exp219]]|1.75| |[[:results:exp452|Azithromycin 100μM R08 exp452]]|1.77| |[[:results:exp220|BAY-598 4μM R05 exp220]]|2.02| |[[:results:exp351|Dexamethasone 0.006μM R07 exp351]]|2.09| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 17870 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.64 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='PTCH1 Expression in NALM6 Cells: 5.64'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1