| General information | Literature | Expression | Regulation | Mutation | Homolog | 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|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: 8065 ACCCAGGAGGGCTGTGCTGATAGCACGTTCCTCGAGTTTACTTTGCTTTCCTTGAGTTTA TTGTAAAGGGGTAAAGTTTTCGGATCCGTCACGTGACCCTGACAGGTCCTGCCTATGGCG CGGCAGACCACCCACGCCGAGGGCCATGGAACTGCTTAATAGAAACAGGCTTGTAATTGT GAGTCCGCGCTGCACTCCGCCGAAAGCCTCCGGCGGCCCAGCGCGCCGGGGTTTTTACAC TTTCCGTTCCTTTTGTAAAGACGGAGGAGGAGGAGAAGAAGAAGAAGAAAACGGAGGAGA AGAAAAAGACGACAGGGGAGACAAAGAGACCCGCAGCGACAAGGCAAGGGGGAGACGAGG GAAGACTGGGAGAAGACGGAGGAGCGGAGGACGAGGAAAGGGGGGCCAGGGAAAAAAAAG GAATTGATGTGAAATCCAAGCCCAGCGTCCGCGCCATCGGCACCCGCGCTCCGAGCAGGG GTTGACGGCCGGCTATGGGGAAGGCTACTGGCCGGAAAGCGCCGCTGTGGCTGAGAGCGA AGTTTCAGAGACTCTTATTTAAACTGGGTTGTTACATTCAAAAAAACTGCGGCAAGTTCT TGGTTGTGGGCCTCCTCATATTTGGGGCCTTCGCGGTGGGATTAAAAGCAGCGAACCTCG AGACCAACGTGGAGGAGCTGTGGGTGGAAGTTGGAGGACGAGTAAGTCGTGAATTAAATT ATACTCGCCAGAAGATTGGAGAAGAGGCTATGTTTAATCCTCAACTCATGATACAGACCC CTAAAGAAGAAGGTGCTAATGTCCTGACCACAGAAGCGCTCCTACAACACCTGGACTCGG CACTCCAGGCCAGCCGTGTCCATGTATACATGTACAACAGGCAGTGGAAATTGGAACATT TGTGTTACAAATCAGGAGAGCTTATCACAGAAACAGGTTACATGGATCAGATAATAGAAT ATCTTTACCCTTGTTTGATTATTACACCTTTGGACTGCTTCTGGGAAGGGGCGAAATTAC AGTCTGGGACAGCATACCTCCTAGGTAAACCTCCTTTGCGGTGGACAAACTTCGACCCTT TGGAATTCCTGGAAGAGTTAAAGAAAATAAACTATCAAGTGGACAGCTGGGAGGAAATGC TGAATAAGGCTGAGGTTGGTCATGGTTACATGGACCGCCCCTGCCTCAATCCGGCCGATC CAGACTGCCCCGCCACAGCCCCCAACAAAAATTCAACCAAACCTCTTGATATGGCCCTTG TTTTGAATGGTGGATGTCATGGCTTATCCAGAAAGTATATGCACTGGCAGGAGGAGTTGA TTGTGGGTGGCACAGTCAAGAACAGCACTGGAAAACTCGTCAGCGCCCATGCCCTGCAGA CCATGTTCCAGTTAATGACTCCCAAGCAAATGTACGAGCACTTCAAGGGGTACGAGTATG TCTCACACATCAACTGGAACGAGGACAAAGCGGCAGCCATCCTGGAGGCCTGGCAGAGGA CATATGTGGAGGTGGTTCATCAGAGTGTCGCACAGAACTCCACTCAAAAGGTGCTTTCCT TCACCACCACGACCCTGGACGACATCCTGAAATCCTTCTCTGACGTCAGTGTCATCCGCG TGGCCAGCGGCTACTTACTCATGCTCGCCTATGCCTGTCTAACCATGCTGCGCTGGGACT GCTCCAAGTCCCAGGGTGCCGTGGGGCTGGCTGGCGTCCTGCTGGTTGCACTGTCAGTGG CTGCAGGACTGGGCCTGTGCTCATTGATCGGAATTTCCTTTAACGCTGCAACAACTCAGG TTTTGCCATTTCTCGCTCTTGGTGTTGGTGTGGATGATGTTTTTCTTCTGGCCCACGCCT TCAGTGAAACAGGACAGAATAAAAGAATCCCTTTTGAGGACAGGACCGGGGAGTGCCTGA AGCGCACAGGAGCCAGCGTGGCCCTCACGTCCATCAGCAATGTCACAGCCTTCTTCATGG CCGCGTTAATCCCAATTCCCGCTCTGCGGGCGTTCTCCCTCCAGGCAGCGGTAGTAGTGG TGTTCAATTTTGCCATGGTTCTGCTCATTTTTCCTGCAATTCTCAGCATGGATTTATATC GACGCGAGGACAGGAGACTGGATATTTTCTGCTGTTTTACAAGCCCCTGCGTCAGCAGAG TGATTCAGGTTGAACCTCAGGCCTACACCGACACACACGACAATACCCGCTACAGCCCCC CACCTCCCTACAGCAGCCACAGCTTTGCCCATGAAACGCAGATTACCATGCAGTCCACTG TCCAGCTCCGCACGGAGTACGACCCCCACACGCACGTGTACTACACCACCGCTGAGCCGC GCTCCGAGATCTCTGTGCAGCCCGTCACCGTGACACAGGACACCCTCAGCTGCCAGAGCC CAGAGAGCACCAGCTCCACAAGGGACCTGCTCTCCCAGTTCTCCGACTCCAGCCTCCACT GCCTCGAGCCCCCCTGTACGAAGTGGACACTCTCATCTTTTGCTGAGAAGCACTATGCTC CTTTCCTCTTGAAACCAAAAGCCAAGGTAGTGGTGATCTTCCTTTTTCTGGGCTTGCTGG GGGTCAGCCTTTATGGCACCACCCGAGTGAGAGACGGGCTGGACCTTACGGACATTGTAC CTCGGGAAACCAGAGAATATGACTTTATTGCTGCACAATTCAAATACTTTTCTTTCTACA ACATGTATATAGTCACCCAGAAAGCAGACTACCCGAATATCCAGCACTTACTTTACGACC TACACAGGAGTTTCAGTAACGTGAAGTATGTCATGTTGGAAGAAAACAAACAGCTTCCCA AAATGTGGCTGCACTACTTCAGAGACTGGCTTCAGGGACTTCAGGATGCATTTGACAGTG ACTGGGAAACCGGGAAAATCATGCCAAACAATTACAAGAATGGATCAGACGATGGAGTCC TTGCCTACAAACTCCTGGTGCAAACCGGCAGCCGCGATAAGCCCATCGACATCAGCCAGT TGACTAAACAGCGTCTGGTGGATGCAGATGGCATCATTAATCCCAGCGCTTTCTACATCT ACCTGACGGCTTGGGTCAGCAACGACCCCGTCGCGTATGCTGCCTCCCAGGCCAACATCC GGCCACACCGACCAGAATGGGTCCACGACAAAGCCGACTACATGCCTGAAACAAGGCTGA GAATCCCGGCAGCAGAGCCCATCGAGTATGCCCAGTTCCCTTTCTACCTCAACGGCTTGC GGGACACCTCAGACTTTGTGGAGGCAATTGAAAAAGTAAGGACCATCTGCAGCAACTATA CGAGCCTGGGGCTGTCCAGTTACCCCAACGGCTACCCCTTCCTCTTCTGGGAGCAGTACA TCGGCCTCCGCCACTGGCTGCTGCTGTTCATCAGCGTGGTGTTGGCCTGCACATTCCTCG TGTGCGCTGTCTTCCTTCTGAACCCCTGGACGGCCGGGATCATTGTGATGGTCCTGGCGC TGATGACGGTCGAGCTGTTCGGCATGATGGGCCTCATCGGAATCAAGCTCAGTGCCGTGC CCGTGGTCATCCTGATCGCTTCTGTTGGCATAGGAGTGGAGTTCACCGTTCACGTTGCTT TGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCAGGGCTGTGCTTGCCCTGGAGCACA TGTTTGCACCCGTCCTGGATGGCGCCGTGTCCACTCTGCTGGGAGTGCTGATGCTGGCGG GATCTGAGTTCGACTTCATTGTCAGGTATTTCTTTGCTGTGCTGGCGATCCTCACCATCC TCGGCGTTCTCAATGGGCTGGTTTTGCTTCCCGTGCTTTTGTCTTTCTTTGGACCATATC CTGAGGTGTCTCCAGCCAACGGCTTGAACCGCCTGCCCACACCCTCCCCTGAGCCACCCC CCAGCGTGGTCCGCTTCGCCATGCCGCCCGGCCACACGCACAGCGGGTCTGATTCCTCCG ACTCGGAGTATAGTTCCCAGACGACAGTGTCAGGCCTCAGCGAGGAGCTTCGGCACTACG AGGCCCAGCAGGGCGCGGGAGGCCCTGCCCACCAAGTGATCGTGGAAGCCACAGAAAACC CCGTCTTCGCCCACTCCACTGTGGTCCATCCCGAATCCAGGCATCACCCACCCTCGAACC CGAGACAGCAGCCCCACCTGGACTCAGGGTCCCTGCCTCCCGGACGGCAAGGCCAGCAGC CCCGCAGGGACCCCCCCAGAGAAGGCTTGTGGCCACCCCCCTACAGACCGCGCAGAGACG CTTTTGAAATTTCTACTGAAGGGCATTCTGGCCCTAGCAATAGGGCCCGCTGGGGCCCTC GCGGGGCCCGTTCTCACAACCCTCGGAACCCAGCGTCCACTGCCATGGGCAGCTCCGTGC CCGGCTACTGCCAGCCCATCACCACTGTGACGGCTTCTGCCTCCGTGACTGTCGCCGTGC ACCCGCCGCCTGTCCCTGGGCCTGGGCGGAACCCCCGAGGGGGACTCTGCCCAGGCTACC CTGAGACTGACCACGGCCTGTTTGAGGACCCCCACGTGCCTTTCCACGTCCGGTGTGAGA GGAGGGATTCGAAGGTGGAAGTCATTGAGCTGCAGGACGTGGAATGCGAGGAGAGGCCCC GGGGAAGCAGCTCCAACTGAGGGTGATTAAAATCTGAAGCAAAGAGGCCAAAGATTGGAA ACCCCCCACCCCCACCTCTTTCCAGAACTGCTTGAAGAGAACTGGTTGGAGTTATGGAAA AGATGCCCTGTGCCAGGACAGCAGTTCATTGTTACTGTAACCGATTGTATTATTTTGTTA AATATTTCTATAAATATTTAAGAGATGTACACATGTGTAATATAGGAAGGAAGGATGTAA AGTGGTATGATCTGGGGCTTCTCCACTCCTGCCCCAGAGTGTGGAGGCCACAGTGGGGCC TCTCCGTATTTGTGCATTGGGCTCCGTGCCACAACCAAGCTTCATTAGTCTTAAATTTCA GCATATGTTGCTGCTGCTTAAATATTGTATAATTTACTTGTATAATTCTATGCAAATATT GCTTATGTAATAGGATTATTTTGTAAAGGTTTCTGTTTAAAATATTTTAAATTTGCATAT CACAACCCTGTGGTAGTATGAAATGTTACTGTTAACTTTCAAACACGCTATGCGTGATAA TTTTTTTGTTTAATGAGCAGATATGAAGAAAGCACGTTAATCCTGGTGGCTTCTCTAGGT GTCGTTGTGTGCGGTCCTCTTGTTTGGCTGTGCGTGTGAACACGTGTGTGAGTTCACCAT GTACTGTACTGTGATTTTTTTTTTGTCTTGTTTTGTTTCTCTACACTGTCTGTAACCTGT AGTAGGCTCTGACCTAGTCAGGCTGGAAGCGTCAGGATATCTTTTCTTCGTGCTGGTGAG GGCTGGCCCTAAACATCCACCTAATCCTTTCAAATCAGCCCGGCAAAAGCTAGACTCTCC TCGTGTCTACGGCATCTCTTATGATCATTGGCTGCCATCCAGGACCCCAATTTGTGCTTC AGGGGGATAATCTCCTTCTCTCGGATCATTGTGATGGATGCTGGAACCTCAGGGTATGGA GCTCACATCAGTTCATCATGGTGGGTGTTAGAGAATTCGGTGACATGCCTAGTGCTGAGC CTTGGCTGGGCCATGAGAGTCTGTATACTCTAAAAAGCATGCAGCATGGTGCCCCTCTTC TGACCAACACACACACGACCCCTCCCCCAACACCCCCAAATTCAAGAGTGGATGTGGCCC TGTCACAGGTAGAAAAACCTATTTAGTTAATTCTTTCTTGGCCCACAGTCTCCCAGAAAT GATGTTTTGAGTCCCTATAGTTTAAACTCCCTCTCTTAAATGGAGCAGCTGGTTGAGGCT TTCTAGATCTGTTTGCATCTTCTTTAAAACTAAGTGGTGAGCATGCATTGTGGTGTAGAG GCAGGCATTATGTAGGATAAGAGCTCCGGGGGGATTCTTCATGCACCAGTGTTTAGGGTA CGTGCTTCCTAAGTAAATCCAAACATTGTCTCCATCCTCCCCGTCATTAGTGCTCTTTCA ATGTGATGTGGGAAAGCAGGAGGATGGACACACCCCACTGAAAGATGTAGGCAGGGGCAG GTCTCTCAACCAGGCATATTTTTAAAAGTTGCTTCTGTACTGGTTCTCTTCTTTTGCTCT GAGGTGTGGGCTCCCTCATCTCGTAACCAGAGACCAGCACATGTCAGGGAAGCACCCAGT GTCGGCTCCCCATCCAAATCCACACCAGCACCTTGTTACAGACAAGAAGTCAGAGGAAAG GGCGGGGTCCCTGCAGGGCTGAAGCCTAAGCTACTGTGAGGCGCTCACGAGTGGCAGCTC CTGTTACTCCCTTTTAAATTACCTGGGAAATCTTAACAGAAAGGTAATGGGCCCCCAGAA ATACCCACAGCATAGTGACCTCAGACCCTGATACTCACCACAAAACTTTTAAGATGCTGA TTGGGAGCCGCTTGTGGCTGCTGGGTGTGTGTGTGTGTGTGTGCGTGCGTGCGTGTGTGT GTGTCTCTGCTGGGGACCCTGGCCACCCCCCTGCTGCTGTCTTGGTGCCTGTCACCCACA TGGTCTGCCATCCTAACACCCAGCTCTGCTCAGAAAACGTCCTGCGTGGAGGAGGGATGA TGCAGAATTCTGAAGTCGACTTCCCTCTGGCTCCTGGCGTGCCCTCGCTCCCTTCCTGAG CCCAGCTCGTGTTGCGCCGGAGGCTGCGCGGCCCCTGATTTCTGCATGGTGTAGAACTTT CTCCAATAGTCACATTGGCAAAGGGAGAACTGGGGTGGGCGGGGGGTGGGGCTGGCAGGG AATTAGAATTTCTCTCTCTCTTTTAATAGTTTTATTTTGTCTGTCCTGTTTGTTCATTTG GATGTTTTAATTTTTAAAAAAAAAAAAACTTTGCTGATATTTATAATTTTGTATCATAAG AATGTTTTCCTCTACAGTATTTGTCATGCCAGTTTATAACAAAAAAAAATGCAGGGATTT TATTTCTATTGGAAACATTACAGCTATGTTTTACTTTTGGACAGAATTTTTATTTGTATA GAGTGCTTACTAATGTTAAATAGTTCAGAGTATATAACATTTACATTAAGGACTCATGGT AGGTTTTAGGGTAAGGAGTTTAAAGGAAATAAATATTCAAACTGGGTCTCATTGCCAATT TTGGTGGAAATGAGTTTGTGTCATTTCAATTACAAAGATAAAAGTATGCCATATAATTTA TTTATATGAAGATTTATTTTTGTAGTGTACATAGTAGTCATCAAGTCTTTTGACAGAAGT ATATTTTTAAAGAATTTATATGTGATGAATCCATAATGTCTGGAACTTTGCTGAGACATG AGTGGGCACAGTTTTCATTGTAAATTACAGCAAGGAAAGAAAATGTTTAACAGTGTTAAG AGAGTCAGAGCAGAGTGGATATTCATGCGATTATGAAGTGTTTATTAGTTACCATTGGCG ACCTAGCATGCTTCTCATTTCAAACCTTGGAAGGTGAAAATGTACAAACTCTCTAAATAA TTAATGTTCAAACACTGATAGAAATTCTAACATGAATAAAAAATAATATAACTTGTTGGT TATATCTTTGTTTGTAGAATGCTTTTTTTCTTTAAAATACTTGGGAGAGACAGTTAGTGT TGGAGCCATCAGAAACTGTTGTTTCATCTTGCTGACCTTGTGACACTCTTCTTTTTTGCT CTATCTGATGGAGAGAGTTTTAGGTTTTCCTCCTTTTTGTTTTGTATAAATAGTGGGTAT AAGCATAGCTCTGTTACATGGATGTATTACAAAGTGGGGGCTGAGCTTTTAGTGTGATCA TCACCCAAATAGTGTACATTGTACCCATTAATTAATTTCTTATCACCTGACCCTATTTTT GTTTTCTCATACCAAGAAACTTCCTAAGTTAACCATCAAAATTAGTCCTTCTGTCATCTC TCTTAGCATACTTATTTCCCTTATGTGATGCCTAATAATGAGGGAACATAAATAAAGCCA AATTCAAAGATAAAAAAAAAAAAAA |
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 |