KEGG   Homo sapiens (human): 5727Help
Entry
5727              CDS       T01001                                 

Gene name
PTCH1, BCNS, NBCCS, PTC, PTC1, PTCH
Definition
(RefSeq) patched 1
  KO
K06225  patched 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04024  cAMP signaling pathway
hsa04340  Hedgehog signaling pathway
hsa04360  Axon guidance
hsa05200  Pathways in cancer
hsa05205  Proteoglycans in cancer
hsa05217  Basal cell carcinoma
Module
hsa_M00678  Hedgehog signaling
Network
nt06217  HH signaling
nt06269  Basal cell carcinoma
  Element
N00010  Mutation-inactivated PTCH1 to Hedgehog signaling pathway
N00017  Mutation-activated SMO to Hedgehog signaling pathway
N00062  Hedgehog signaling pathway
Disease
H00039  Basal cell carcinoma
H00267  Holoprosencephaly
H00895  Basal cell nevus syndrome
H01667  Medulloblastoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04340 Hedgehog signaling pathway
    5727 (PTCH1)
   04024 cAMP signaling pathway
    5727 (PTCH1)
 09150 Organismal Systems
  09158 Development
   04360 Axon guidance
    5727 (PTCH1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    5727 (PTCH1)
   05205 Proteoglycans in cancer
    5727 (PTCH1)
  09162 Cancer: specific types
   05217 Basal cell carcinoma
    5727 (PTCH1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Patched Sterol-sensing
Motif
Other DBs
NCBI-GeneID: 5727
NCBI-ProteinID: NP_000255
OMIM: 601309
HGNC: 9585
Ensembl: ENSG00000185920
Vega: OTTHUMG00000020280
Pharos: Q13635(Tbio)
UniProt: Q13635
Structure
PDB: 

Position
9q22.32
AA seq 1447 aa AA seqDB search
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
NT seq 4344 nt NT seq  +upstreamnt  +downstreamnt
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

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