| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
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 |
Pathways and Diseases | |
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 |
External Links | |
Links to Entrez Gene | 5727 |
Links to all GeneRIF Items | 5727 |
Links to iHOP | 5727 |
Sequence Information | |
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 |