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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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Gene ID | 5727 |
Name | PTCH1 |
Synonym | BCNS|HPE7|NBCCS|PTC|PTC1|PTCH|PTCH11;patched 1;PTCH1;patched 1 |
Definition | PTCH protein +12b|PTCH protein +4'|PTCH protein -10|PTCH protein -3,4,5|patched homolog 1|protein patched homolog 1 |
Position | 9q22.3 |
Gene Type | protein-coding |
Source | Count: 4; Pubmed_search,TAG,UniProt,Generif |
Literature support | Count: 10 PubMed records as below. |
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Evidence Status |
Description |
reviewed | Heterozygous mutations in the tumor suppressor gene PATCHED provoke basal cell carcinoma-like features in human organotypic skin cultures. |
reviewed | These data support a tumor suppressor gene role for PTCH1 in nonsyndromic or sporadic CFs. |
reviewed | Distinct roles of first exon variants of the tumor-suppressor Patched1 in Hedgehog signaling. |
reviewed | "Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons." |
reviewed | Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site. |
potential | Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. |
reviewed | preeminence of Ptch1 as a tumor suppressor in cerebellar granule cells. |
reviewed | tumor suppressor gene co-operativity in compound Patched1 and suppressor of fused heterozygous mutant mice. |
reviewed | Cooperation between the Hic1 and Ptch1 tumor suppressors in medulloblastoma. |
reviewed | The CDK inhibitor p18Ink4c is a tumor suppressor in medulloblastoma. |
| More detail of all 10 literatures about PTCH1 | |
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Pathways and Diseases |
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Pathway | Hedgehog signaling events mediated by Gli proteins;PID Curated;200147 |
Pathway | Signaling by GPCR;Reactome;REACT:14797 |
Pathway | Hedgehog signaling pathway;PANTHER;P00025 |
Pathway | Glypican 3 network;PID Curated;200193 |
Pathway | Signaling events mediated by the Hedgehog family;PID Curated;200144 |
Pathway | Basal cell carcinoma;KEGG PATHWAY;hsa05217 |
Pathway | Hedgehog signaling pathway;KEGG PATHWAY;hsa04340 |
Pathway | Pathways in cancer;KEGG PATHWAY;hsa05200 |
Pathway | sonic hedgehog receptor ptc1 regulates cell cycle;PID BioCarta;100060 |
Pathway | Class B/2 (Secretin family receptors);PID Reactome;500428 |
Disease | Basal cell carcinoma, somatic;OMIM |
Disease | Height;NHGRI |
Disease | Cancers;KEGG DISEASE |
Disease | Plasma chemerin levels;NHGRI |
Disease | Pulmonary function;NHGRI |
Disease | Holoprosencephaly-7;OMIM |
Disease | pulmonary function;GAD |
Disease | breast cancer;GAD |
Disease | CARDIOVASCULAR;GAD |
Disease | Basal cell carcinoma;KEGG DISEASE;H00039 |
Disease | DEVELOPMENTAL;GAD |
Disease | CANCER;GAD |
Disease | Basal cell nevus syndrome;OMIM |
Disease | proximal chromosome 9p to q and distal chromosome 9q;GAD |
Disease | nevoid basal cell carcinoma syndrome associated;GAD |
Disease | Skin cancers;KEGG DISEASE |
Disease | height;GAD |
Disease | skin cancer, non-melanoma;GAD |
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External Links |
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Links to Entrez Gene | 5727 |
Links to all GeneRIF Items | 5727 |
Links to iHOP | 5727 |
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Sequence Information |
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Nucleotide Sequence |
>5727 : length: 4344 atggcctcggctggtaacgccgccgagccccaggaccgcggcggcggcggcagcggctgt atcggtgccccgggacggccggctggaggcgggaggcgcagacggacgggggggctgcgc cgtgctgccgcgccggaccgggactatctgcaccggcccagctactgcgacgccgccttc gctctggagcagatttccaaggggaaggctactggccggaaagcgccgctgtggctgaga gcgaagtttcagagactcttatttaaactgggttgttacattcaaaaaaactgcggcaag ttcttggttgtgggcctcctcatatttggggccttcgcggtgggattaaaagcagcgaac ctcgagaccaacgtggaggagctgtgggtggaagttggaggacgagtaagtcgtgaatta aattatactcgccagaagattggagaagaggctatgtttaatcctcaactcatgatacag acccctaaagaagaaggtgctaatgtcctgaccacagaagcgctcctacaacacctggac tcggcactccaggccagccgtgtccatgtatacatgtacaacaggcagtggaaattggaa catttgtgttacaaatcaggagagcttatcacagaaacaggttacatggatcagataata gaatatctttacccttgtttgattattacacctttggactgcttctgggaaggggcgaaa ttacagtctgggacagcatacctcctaggtaaacctcctttgcggtggacaaacttcgac cctttggaattcctggaagagttaaagaaaataaactatcaagtggacagctgggaggaa atgctgaataaggctgaggttggtcatggttacatggaccgcccctgcctcaatccggcc gatccagactgccccgccacagcccccaacaaaaattcaaccaaacctcttgatatggcc cttgttttgaatggtggatgtcatggcttatccagaaagtatatgcactggcaggaggag ttgattgtgggtggcacagtcaagaacagcactggaaaactcgtcagcgcccatgccctg cagaccatgttccagttaatgactcccaagcaaatgtacgagcacttcaaggggtacgag tatgtctcacacatcaactggaacgaggacaaagcggcagccatcctggaggcctggcag aggacatatgtggaggtggttcatcagagtgtcgcacagaactccactcaaaaggtgctt tccttcaccaccacgaccctggacgacatcctgaaatccttctctgacgtcagtgtcatc cgcgtggccagcggctacttactcatgctcgcctatgcctgtctaaccatgctgcgctgg gactgctccaagtcccagggtgccgtggggctggctggcgtcctgctggttgcactgtca gtggctgcaggactgggcctgtgctcattgatcggaatttcctttaacgctgcaacaact caggttttgccatttctcgctcttggtgttggtgtggatgatgtttttcttctggcccac gccttcagtgaaacaggacagaataaaagaatcccttttgaggacaggaccggggagtgc ctgaagcgcacaggagccagcgtggccctcacgtccatcagcaatgtcacagccttcttc atggccgcgttaatcccaattcccgctctgcgggcgttctccctccaggcagcggtagta gtggtgttcaattttgccatggttctgctcatttttcctgcaattctcagcatggattta tatcgacgcgaggacaggagactggatattttctgctgttttacaagcccctgcgtcagc agagtgattcaggttgaacctcaggcctacaccgacacacacgacaatacccgctacagc cccccacctccctacagcagccacagctttgcccatgaaacgcagattaccatgcagtcc actgtccagctccgcacggagtacgacccccacacgcacgtgtactacaccaccgctgag ccgcgctccgagatctctgtgcagcccgtcaccgtgacacaggacaccctcagctgccag agcccagagagcaccagctccacaagggacctgctctcccagttctccgactccagcctc cactgcctcgagcccccctgtacgaagtggacactctcatcttttgctgagaagcactat gctcctttcctcttgaaaccaaaagccaaggtagtggtgatcttcctttttctgggcttg ctgggggtcagcctttatggcaccacccgagtgagagacgggctggaccttacggacatt gtacctcgggaaaccagagaatatgactttattgctgcacaattcaaatacttttctttc tacaacatgtatatagtcacccagaaagcagactacccgaatatccagcacttactttac gacctacacaggagtttcagtaacgtgaagtatgtcatgttggaagaaaacaaacagctt cccaaaatgtggctgcactacttcagagactggcttcagggacttcaggatgcatttgac agtgactgggaaaccgggaaaatcatgccaaacaattacaagaatggatcagacgatgga gtccttgcctacaaactcctggtgcaaaccggcagccgcgataagcccatcgacatcagc cagttgactaaacagcgtctggtggatgcagatggcatcattaatcccagcgctttctac atctacctgacggcttgggtcagcaacgaccccgtcgcgtatgctgcctcccaggccaac atccggccacaccgaccagaatgggtccacgacaaagccgactacatgcctgaaacaagg ctgagaatcccggcagcagagcccatcgagtatgcccagttccctttctacctcaacggc ttgcgggacacctcagactttgtggaggcaattgaaaaagtaaggaccatctgcagcaac tatacgagcctggggctgtccagttaccccaacggctaccccttcctcttctgggagcag tacatcggcctccgccactggctgctgctgttcatcagcgtggtgttggcctgcacattc ctcgtgtgcgctgtcttccttctgaacccctggacggccgggatcattgtgatggtcctg gcgctgatgacggtcgagctgttcggcatgatgggcctcatcggaatcaagctcagtgcc gtgcccgtggtcatcctgatcgcttctgttggcataggagtggagttcaccgttcacgtt gctttggcctttctgacggccatcggcgacaagaaccgcagggctgtgcttgccctggag cacatgtttgcacccgtcctggatggcgccgtgtccactctgctgggagtgctgatgctg gcgggatctgagttcgacttcattgtcaggtatttctttgctgtgctggcgatcctcacc atcctcggcgttctcaatgggctggttttgcttcccgtgcttttgtctttctttggacca tatcctgaggtgtctccagccaacggcttgaaccgcctgcccacaccctcccctgagcca ccccccagcgtggtccgcttcgccatgccgcccggccacacgcacagcgggtctgattcc tccgactcggagtatagttcccagacgacagtgtcaggcctcagcgaggagcttcggcac tacgaggcccagcagggcgcgggaggccctgcccaccaagtgatcgtggaagccacagaa aaccccgtcttcgcccactccactgtggtccatcccgaatccaggcatcacccaccctcg aacccgagacagcagccccacctggactcagggtccctgcctcccggacggcaaggccag cagccccgcagggacccccccagagaaggcttgtggccacccccctacagaccgcgcaga gacgcttttgaaatttctactgaagggcattctggccctagcaatagggcccgctggggc cctcgcggggcccgttctcacaaccctcggaacccagcgtccactgccatgggcagctcc gtgcccggctactgccagcccatcaccactgtgacggcttctgcctccgtgactgtcgcc gtgcacccgccgcctgtccctgggcctgggcggaacccccgagggggactctgcccaggc taccctgagactgaccacggcctgtttgaggacccccacgtgcctttccacgtccggtgt gagaggagggattcgaaggtggaagtcattgagctgcaggacgtggaatgcgaggagagg ccccggggaagcagctccaactga |
Protein Sequence |
>5727 : length: 1447 MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAF ALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAAN LETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLD SALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPCLIITPLDCFWEGAK LQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPA DPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHAL QTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVL SFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALS VAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGEC LKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDL YRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHDNTRYSPPPPYSSHSFAHETQITMQS TVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQSPESTSSTRDLLSQFSDSSL HCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTRVRDGLDLTDI VPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQL PKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDIS QLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETR LRIPAAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQ YIGLRHWLLLFISVVLACTFLVCAVFLLNPWTAGIIVMVLALMTVELFGMMGLIGIKLSA VPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALEHMFAPVLDGAVSTLLGVLML AGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEP PPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATE NPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRR DAFEISTEGHSGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVA VHPPPVPGPGRNPRGGLCPGYPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEER PRGSSSN |