KEGG   Homo sapiens (human): 2735
Entry
2735              CDS       T01001                                 

Gene name
GLI1, GLI, PAPA8, PPD1
Definition
(RefSeq) GLI family zinc finger 1
  KO
K16797  zinc finger protein GLI1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04024  cAMP signaling pathway
hsa04340  Hedgehog signaling pathway
hsa05200  Pathways in cancer
hsa05217  Basal cell carcinoma
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
H01852  Postaxial polydactyly
H02332  Preaxial polydactyly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04340 Hedgehog signaling pathway
    2735 (GLI1)
   04024 cAMP signaling pathway
    2735 (GLI1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    2735 (GLI1)
  09162 Cancer: specific types
   05217 Basal cell carcinoma
    2735 (GLI1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    2735 (GLI1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Cys2His2 GLI-like
    2735 (GLI1)
SSDB
Motif
Pfam: zf-C2H2 zf-H2C2_2 FOXP-CC zf-C2H2_4 IL17
Other DBs
NCBI-GeneID: 2735
NCBI-ProteinID: NP_005260
OMIM: 165220
HGNC: 4317
Ensembl: ENSG00000111087
Vega: OTTHUMG00000167332
Pharos: P08151(Tchem)
UniProt: P08151
LinkDB
Structure
PDB: 
2GLI

Position
12q13.3
AA seq 1106 aa
MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEGLSGPPFCHQANLMSGPHSYGPARETN
SCTEGPLFSSPRSAVKLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGS
YGHLSIGTMSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLK
SELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREEKREPESVYETDCRWD
GCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKP
HKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEK
PYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAPSISTVEPKREREG
GPIREESRLTVPEGAMKPQPSPGAQSSCSSDHSPAGSAANTDSGVEMTGNAGGSTEDLSS
LDEGPCIAGTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLE
RRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLMPAQHYLLRARYASARGGG
TSPTAASSLDRIGGLPMPPWRSRAEYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSL
GCVHTPPTVAGGGQNFDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNP
YMDFPPTDTLGYGGPEGAAAEPYGARGPGSLPLGPGPPTNYGPNPCPQQASYPDPTQETW
GEFPSHSGLYPGPKALGGTYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEG
PPHPQPLFSHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCN
YVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHK
SGSYPTPSPCHENFVVGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLG
GGPALYPPPEGQVCNPLDSLDLDNTQLDFVAILDEPQGLSPPPSHDQRGSSGHTPPPSGP
PNMAVGNMSVLLRSLPGETEFLNSSA
NT seq 3321 nt   +upstreamnt  +downstreamnt
atgttcaactcgatgaccccaccaccaatcagtagctatggcgagccctgctgtctccgg
cccctccccagtcagggggcccccagtgtggggacagaaggactgtctggcccgcccttc
tgccaccaagctaacctcatgtccggcccccacagttatgggccagccagagagaccaac
agctgcaccgagggcccactcttttcttctccccggagtgcagtcaagttgaccaagaag
cgggcactgtccatctcacctctgtcggatgccagcctggacctgcagacggttatccgc
acctcacccagctccctcgtagctttcatcaactcgcgatgcacatctccaggaggctcc
tacggtcatctctccattggcaccatgagcccatctctgggattcccagcccagatgaat
caccaaaaagggccctcgccttcctttggggtccagccttgtggtccccatgactctgcc
cggggtgggatgatcccacatcctcagtcccggggacccttcccaacttgccagctgaag
tctgagctggacatgctggttggcaagtgccgggaggaacccttggaaggtgatatgtcc
agccccaactccacaggcatacaggatcccctgttggggatgctggatgggcgggaggac
ctcgagagagaggagaagcgtgagcctgaatctgtgtatgaaactgactgccgttgggat
ggctgcagccaggaatttgactcccaagagcagctggtgcaccacatcaacagcgagcac
atccacggggagcggaaggagttcgtgtgccactgggggggctgctccagggagctgagg
cccttcaaagcccagtacatgctggtggttcacatgcgcagacacactggcgagaagcca
cacaagtgcacgtttgaagggtgccggaagtcatactcacgcctcgaaaacctgaagacg
cacctgcggtcacacacgggtgagaagccatacatgtgtgagcacgagggctgcagtaaa
gccttcagcaatgccagtgaccgagccaagcaccagaatcggacccattccaatgagaag
ccgtatgtatgtaagctccctggctgcaccaaacgctatacagatcctagctcgctgcga
aaacatgtcaagacagtgcatggtcctgacgcccatgtgaccaaacggcaccgtggggat
ggccccctgcctcgggcaccatccatttctacagtggagcccaagagggagcgggaagga
ggtcccatcagggaggaaagcagactgactgtgccagagggtgccatgaagccacagcca
agccctggggcccagtcatcctgcagcagtgaccactccccggcagggagtgcagccaat
acagacagtggtgtggaaatgactggcaatgcagggggcagcactgaagacctctccagc
ttggacgagggaccttgcattgctggcactggtctgtccactcttcgccgccttgagaac
ctcaggctggaccagctacatcaactccggccaatagggacccggggtctcaaactgccc
agcttgtcccacaccggtaccactgtgtcccgccgcgtgggccccccagtctctcttgaa
cgccgcagcagcagctccagcagcatcagctctgcctatactgtcagccgccgctcctcc
ctggcctctcctttcccccctggctccccaccagagaatggagcatcctccctgcctggc
cttatgcctgcccagcactacctgcttcgggcaagatatgcttcagccagagggggtggt
acttcgcccactgcagcatccagcctggatcggataggtggtcttcccatgcctccttgg
agaagccgagccgagtatccaggatacaaccccaatgcaggggtcacccggagggccagt
gacccagcccaggctgctgaccgtcctgctccagctagagtccagaggttcaagagcctg
ggctgtgtccataccccacccactgtggcagggggaggacagaactttgatccttacctc
ccaacctctgtctactcaccacagccccccagcatcactgagaatgctgccatggatgct
agagggctacaggaagagccagaagttgggacctccatggtgggcagtggtctgaacccc
tatatggacttcccacctactgatactctgggatatgggggacctgaaggggcagcagct
gagccttatggagcgaggggtccaggctctctgcctcttgggcctggtccacccaccaac
tatggccccaacccctgtccccagcaggcctcatatcctgaccccacccaagaaacatgg
ggtgagttcccttcccactctgggctgtacccaggccccaaggctctaggtggaacctac
agccagtgtcctcgacttgaacattatggacaagtgcaagtcaagccagaacaggggtgc
ccagtggggtctgactccacaggactggcaccctgcctcaatgcccaccccagtgagggg
cccccacatccacagcctctcttttcccattacccccagccctctcctccccaatatctc
cagtcaggcccctatacccagccaccccctgattatcttccttcagaacccaggccttgc
ctggactttgattcccccacccattccacagggcagctcaaggctcagcttgtgtgtaat
tatgttcaatctcaacaggagctactgtgggagggtgggggcagggaagatgcccccgcc
caggaaccttcctaccagagtcccaagtttctggggggttcccaggttagcccaagccgt
gctaaagctccagtgaacacatatggacctggctttggacccaacttgcccaatcacaag
tcaggttcctatcccaccccttcaccatgccatgaaaattttgtagtgggggcaaatagg
gcttcacatagggcagcagcaccacctcgacttctgcccccattgcccacttgctatggg
cctctcaaagtgggaggcacaaaccccagctgtggtcatcctgaggtgggcaggctagga
gggggtcctgccttgtaccctcctcccgaaggacaggtatgtaaccccctggactctctt
gatcttgacaacactcagctggactttgtggctattctggatgagccccaggggctgagt
cctcctccttcccatgatcagcggggcagctctggacataccccacctccctctgggccc
cccaacatggctgtgggcaacatgagtgtcttactgagatccctacctggggaaacagaa
ttcctcaactctagtgcctaa

KEGG   Homo sapiens (human): 5727
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
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 and regeneration
   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)
SSDB
Motif
Pfam: Patched Sterol-sensing
Other DBs
NCBI-GeneID: 5727
NCBI-ProteinID: NP_000255
OMIM: 601309
HGNC: 9585
Ensembl: ENSG00000185920
Vega: OTTHUMG00000020280
Pharos: Q13635(Tbio)
UniProt: Q13635
LinkDB
Structure
PDB: 

Position
9q22.32
AA seq 1447 aa
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   +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

KEGG   Homo sapiens (human): 8643
Entry
8643              CDS       T01001                                 

Gene name
PTCH2, PTC2
Definition
(RefSeq) patched 2
  KO
K11101  patched 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04340  Hedgehog signaling pathway
hsa05200  Pathways in cancer
hsa05217  Basal cell carcinoma
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
H00895  Basal cell nevus syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04340 Hedgehog signaling pathway
    8643 (PTCH2)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    8643 (PTCH2)
  09162 Cancer: specific types
   05217 Basal cell carcinoma
    8643 (PTCH2)
SSDB
Motif
Pfam: Patched Sterol-sensing MMPL
Other DBs
NCBI-GeneID: 8643
NCBI-ProteinID: NP_003729
OMIM: 603673
HGNC: 9586
Ensembl: ENSG00000117425
Vega: OTTHUMG00000008490
Pharos: Q9Y6C5(Tbio)
UniProt: Q9Y6C5
LinkDB
Position
1p34.1
AA seq 1203 aa
MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLF
LGLLAFGALALGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTAR
QEGENILTPEALGLHLQAALTASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKL
FPCVILTPLDCFWEGAKLQGGSAYLPGRPDIQWTNLDPEQLLEELGPFASLEGFRELLDK
AQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELSGGCHGFSHKFMHWQEELLLG
GMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQASTVLQAWQRRFV
QLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQ
SQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTE
ALPGTPLQERMGECLQRTGTSVVLTSINNMAAFLMAALVPIPALRAFSLQAAIVVGCTFV
AVMLVFPAILSLDLRRRHCQRLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATV
QAFTHCEASSQHVVTILPPQAHLVPPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKS
LPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRG
TKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVLPPPATQAPRT
WLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLT
TRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIP
PAQPLEFAQFPFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGL
RRCFLLAVCILLVCTFLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVV
ILVASVGIGVEFTVHVALGFLTTQGSRNLRAAHALEHTFAPVTDGAISTLLGLLMLAGSH
FDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEVIQMYKESPEILSPPAPQGGG
LRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGP
ATG
NT seq 3612 nt   +upstreamnt  +downstreamnt
atgactcgatcgccgcccctcagagagctgcccccgagttacacacccccagctcgaacc
gcagcaccccagatcctagctgggagcctgaaggctccactctggcttcgtgcttacttc
cagggcctgctcttctctctgggatgcgggatccagagacattgtggcaaagtgctcttt
ctgggactgttggcctttggggccctggcattaggtctccgcatggccattattgagaca
aacttggaacagctctgggtagaagtgggcagccgggtgagccaggagctgcattacacc
aaggagaagctgggggaggaggctgcatacacctctcagatgctgatacagaccgcacgc
caggagggagagaacatcctcacacccgaagcacttggcctccacctccaggcagccctc
actgccagtaaagtccaagtatcactctatgggaagtcctgggatttgaacaaaatctgc
tacaagtcaggagttccccttattgaaaatggaatgattgagcggatgattgagaagctg
tttccgtgcgtgatcctcacccccctcgactgcttctgggagggagccaaactccaaggg
ggctccgcctacctgcccggccgcccggatatccagtggaccaacctggatccagagcag
ctgctggaggagctgggtccctttgcctcccttgagggcttccgggagctgctagacaag
gcacaggtgggccaggcctacgtggggcggccctgtctgcaccctgatgacctccactgc
ccacctagtgcccccaaccatcacagcaggcaggctcccaatgtggctcacgagctgagt
gggggctgccatggcttctcccacaaattcatgcactggcaggaggaattgctgctggga
ggcatggccagagacccccaaggagagctgctgagggcagaggccctgcagagcaccttc
ttgctgatgagtccccgccagctgtacgagcatttccggggtgactatcagacacatgac
attggctggagtgaggagcaggccagcacagtgctacaagcctggcagcggcgctttgtg
cagctggcccaggaggccctgcctgagaacgcttcccagcagatccatgccttctcctcc
accaccctggatgacatcctgcatgcgttctctgaagtcagtgctgcccgtgtggtggga
ggctatctgctcatgctggcctatgcctgtgtgaccatgctgcggtgggactgcgcccag
tcccagggttccgtgggccttgccggggtactgctggtggccctggcggtggcctcaggc
cttgggctctgtgccctgctcggcatcaccttcaatgctgccactacccaggtgctgccc
ttcttggctctgggaatcggcgtggatgacgtattcctgctggcgcatgccttcacagag
gctctgcctggcacccctctccaggagcgcatgggcgagtgtctgcagcgcacgggcacc
agtgtcgtactcacatccatcaacaacatggccgccttcctcatggctgccctcgttccc
atccctgcgctgcgagccttctccctacaggcggccatagtggttggctgcacctttgta
gccgtgatgcttgtcttcccagccatcctcagcctggacctacggcggcgccactgccag
cgccttgatgtgctctgctgcttctccagtccctgctctgctcaggtgattcagatcctg
ccccaggagctgggggacgggacagtaccagtgggcattgcccacctcactgccacagtt
caagcctttacccactgtgaagccagcagccagcatgtggtcaccatcctgcctccccaa
gcccacctggtgcccccaccttctgacccactgggctctgagctcttcagccctggaggg
tccacacgggaccttctaggccaggaggaggagacaaggcagaaggcagcctgcaagtcc
ctgccctgtgcccgctggaatcttgcccatttcgcccgctatcagtttgccccgttgctg
ctccagtcacatgctaaggccatcgtgctggtgctctttggtgctcttctgggcctgagc
ctctacggagccaccttggtgcaagacggcctggccctgacggatgtggtgcctcggggc
accaaggagcatgccttcctgagcgcccagctcaggtacttctccctgtacgaggtggcc
ctggtgacccagggtggctttgactacgcccactcccaacgcgccctctttgatctgcac
cagcgcttcagttccctcaaggcggtgctgcccccaccggccacccaggcaccccgcacc
tggctgcactattaccgcaactggctacagggaatccaggctgcctttgaccaggactgg
gcttctgggcgcatcacccgccactcgtaccgcaatggctctgaggatggggccctggcc
tacaagctgctcatccagactggagacgcccaggagcctctggatttcagccagctgacc
acaaggaagctggtggacagagagggactgattccacccgagctcttctacatggggctg
accgtgtgggtgagcagtgaccccctgggtctggcagcctcacaggccaacttctacccc
ccacctcctgaatggctgcacgacaaatacgacaccacgggggagaaccttcgcatcccg
ccagctcagcccttggagtttgcccagttccccttcctgctgcgtggcctccagaagact
gcagactttgtggaggccatcgagggggcccgggcagcatgcgcagaggccggccaggct
ggggtgcacgcctaccccagcggctcccccttcctcttctgggaacagtatctgggcctg
cggcgctgcttcctgctggccgtctgcatcctgctggtgtgcactttcctcgtctgtgct
ctgctgctcctcaacccctggacggctggcctcatagtgctggtcctggcgatgatgaca
gtggaactctttggtatcatgggtttcctgggcatcaagctgagtgccatccccgtggtg
atccttgtggcctctgtaggcattggcgttgagttcacagtccacgtggctctgggcttc
ctgaccacccagggcagccggaacctgcgggccgcccatgcccttgagcacacatttgcc
cccgtgaccgatggggccatctccacattgctgggtctgctcatgcttgctggttcccac
tttgacttcattgtaaggtacttctttgcggcgctgacagtgctcacgctcctgggcctc
ctccatggactcgtgctgctgcctgtgctgctgtccatcctgggcccgccgccagaggtg
atacagatgtacaaggaaagcccagagatcctgagtccaccagctccacagggaggcggg
cttaggtggggggcatcctcctccctgccccagagctttgccagagtgactacctccatg
accgtggccatccacccaccccccctgcctggtgcctacatccatccagcccctgatgag
cccccttggtcccctgctgccactagctctggcaacctcagttccaggggaccaggtcca
gccactgggtga

KEGG   Homo sapiens (human): 64399
Entry
64399             CDS       T01001                                 

Gene name
HHIP, HIP
Definition
(RefSeq) hedgehog interacting protein
  KO
K06231  hedgehog interacting protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04024  cAMP signaling pathway
hsa04340  Hedgehog signaling pathway
hsa05200  Pathways in cancer
hsa05217  Basal cell carcinoma
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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04340 Hedgehog signaling pathway
    64399 (HHIP)
   04024 cAMP signaling pathway
    64399 (HHIP)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    64399 (HHIP)
  09162 Cancer: specific types
   05217 Basal cell carcinoma
    64399 (HHIP)
SSDB
Motif
Pfam: Folate_rec GSDH EGF_2
Other DBs
NCBI-GeneID: 64399
NCBI-ProteinID: NP_071920
OMIM: 606178
HGNC: 14866
Ensembl: ENSG00000164161
Vega: OTTHUMG00000161428
Pharos: Q96QV1(Tbio)
UniProt: Q96QV1
LinkDB
Structure
PDB: 

Position
4q31.21
AA seq 700 aa
MLKMLSFKLLLLAVALGFFEGDAKFGERNEGSGARRRRCLNGNPPKRLKRRDRRMMSQLE
LLSGGEMLCGGFYPRLSCCLRSDSPGLGRLENKIFSVTNNTECGKLLEEIKCALCSPHSQ
SLFHSPEREVLERDLVLPLLCKDYCKEFFYTCRGHIPGFLQTTADEFCFYYARKDGGLCF
PDFPRKQVRGPASNYLDQMEEYDKVEEISRKHKHNCFCIQEVVSGLRQPVGALHSGDGSQ
RLFILEKEGYVKILTPEGEIFKEPYLDIHKLVQSGIKGGDERGLLSLAFHPNYKKNGKLY
VSYTTNQERWAIGPHDHILRVVEYTVSRKNPHQVDLRTARVFLEVAELHRKHLGGQLLFG
PDGFLYIILGDGMITLDDMEEMDGLSDFTGSVLRLDVDTDMCNVPYSIPRSNPHFNSTNQ
PPEVFAHGLHDPGRCAVDRHPTDININLTILCSDSNGKNRSSARILQIIKGKDYESEPSL
LEFKPFSNGPLVGGFVYRGCQSERLYGSYVFGDRNGNFLTLQQSPVTKQWQEKPLCLGTS
GSCRGYFSGHILGFGEDELGEVYILSSSKSMTQTHNGKLYKIVDPKRPLMPEECRATVQP
AQTLTSECSRLCRNGYCTPTGKCCCSPGWEGDFCRTAKCEPACRHGGVCVRPNKCLCKKG
YLGPQCEQVDRNIRRVTRAGILDQIIDMTSYLLDLTSYIV
NT seq 2103 nt   +upstreamnt  +downstreamnt
atgctgaagatgctctcctttaagctgctgctgctggccgtggctctgggcttctttgaa
ggagatgctaagtttggggaaagaaacgaagggagcggagcaaggaggagaaggtgcctg
aatgggaaccccccgaagcgcctgaaaaggagagacaggaggatgatgtcccagctggag
ctgctgagtgggggagagatgctgtgcggtggcttctaccctcggctgtcctgctgcctg
cggagtgacagcccggggctagggcgcctggagaataagatattttctgttaccaacaac
acagaatgtgggaagttactggaggaaatcaaatgtgcactttgctctccacattctcaa
agcctgttccactcacctgagagagaagtcttggaaagagacctagtacttcctctgctc
tgcaaagactattgcaaagaattcttttacacttgccgaggccatattccaggtttcctt
caaacaactgcggatgagttttgcttttactatgcaagaaaagatggtgggttgtgcttt
ccagattttccaagaaaacaagtcagaggaccagcatctaactacttggaccagatggaa
gaatatgacaaagtggaagagatcagcagaaagcacaaacacaactgcttctgtattcag
gaggttgtgagtgggctgcggcagcccgttggtgccctgcatagtggggatggctcgcaa
cgtctcttcattctggaaaaagaaggttatgtgaagatacttacccctgaaggagaaatt
ttcaaggagccttatttggacattcacaaacttgttcaaagtggaataaagggaggagat
gaaagaggactgctaagcctcgcattccatcccaattacaagaaaaatggaaagttgtat
gtgtcctataccaccaaccaagaacggtgggctatcgggcctcatgaccacattcttagg
gttgtggaatacacagtatccagaaaaaatccacaccaagttgatttgagaacagccaga
gtctttcttgaagttgcagaactccacagaaagcatctgggaggacaactgctctttggc
cctgacggctttttgtacatcattcttggtgatgggatgattacactggatgatatggaa
gaaatggatgggttaagtgatttcacaggctcagtgctacggctggatgtggacacagac
atgtgcaacgtgccttattccataccaaggagcaacccacacttcaacagcaccaaccag
ccccccgaagtgtttgctcatgggctccacgatccaggcagatgtgctgtggatagacat
cccactgatataaacatcaatttaacgatactgtgttcagactccaatggaaaaaacaga
tcatcagccagaattctacagataataaaggggaaagattatgaaagtgagccatcactt
ttagaattcaagccattcagtaatggtcctttggttggtggatttgtataccggggctgc
cagtcagaaagattgtatggaagctacgtgtttggagatcgtaatgggaatttcctaact
ctccagcaaagtcctgtgacaaagcagtggcaagaaaaaccactctgtctcggcactagt
gggtcctgtagaggctacttttccggtcacatcttgggatttggagaagatgaactaggt
gaagtttacattttatcaagcagtaaaagtatgacccagactcacaatggaaaactctac
aaaattgtagatcccaaaagacctttaatgcctgaggaatgcagagccacggtacaacct
gcacagacactgacttcagagtgctccaggctctgtcgaaacggctactgcacccccacg
ggaaagtgctgctgcagtccaggctgggagggggacttctgcagaactgcaaaatgtgag
ccagcatgtcgtcatggaggtgtctgtgttagaccgaacaagtgcctctgtaaaaaagga
tatcttggtcctcaatgtgaacaagtggacagaaacatccgcagagtgaccagggcaggt
attcttgatcagatcattgacatgacatcttacttgctggatctaacaagttacattgta
tag

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