KEGG   Homo sapiens (human): 51684
Entry
51684             CDS       T01001                                 
Symbol
SUFU, JBTS32, PRO1280, SUFUH, SUFUXL
Name
(RefSeq) SUFU negative regulator of hedgehog signaling
  KO
K06229  suppressor of fused
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
nt06501  HH signaling
  Element
N00010  Mutation-inactivated PTCH1 to Hedgehog signaling pathway
N00017  Mutation-activated SMO to Hedgehog signaling pathway
N00062  Hedgehog signaling pathway
Disease
H00530  Joubert syndrome and related disorders
H00895  Basal cell nevus syndrome
H01556  Meningioma
H01667  Medulloblastoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04340 Hedgehog signaling pathway
    51684 (SUFU)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    51684 (SUFU)
  09162 Cancer: specific types
   05217 Basal cell carcinoma
    51684 (SUFU)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    51684 (SUFU)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   51684 (SUFU)
SSDB
Motif
Pfam: SUFU_C SUFU
Other DBs
NCBI-GeneID: 51684
NCBI-ProteinID: NP_057253
OMIM: 607035
HGNC: 16466
Ensembl: ENSG00000107882
Pharos: Q9UMX1(Tbio)
UniProt: Q9UMX1
Structure
LinkDB
Position
10:102502819..102633535
AA seq 484 aa
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKY
WLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFEL
TFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLT
EDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRL
SGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHEL
IRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATE
EHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFD
SPLH
NT seq 1455 nt   +upstreamnt  +downstreamnt
atggcggagctgcggcctagcggcgcccccggccccaccgcgcccccggcccctggcccg
actgcccccccggccttcgcttcgctctttcccccgggactgcacgccatctacggagag
tgccgccgcctttaccctgaccagccgaacccgctccaggttaccgctatcgtcaagtac
tggttgggtggcccagaccccttggactatgttagcatgtacaggaatgtggggagccct
tctgctaacatccccgagcactggcactacatcagcttcggcctgagtgatctctatggt
gacaacagagtccatgagtttacaggaacagatggacctagtggttttggctttgagttg
acctttcgtctgaagagagaaactggggagtctgccccaccaacatggcccgcagagtta
atgcagggcttggcacgatacgtgttccagtcagagaacaccttctgcagtggggaccat
gtgtcctggcacagccctttggataacagtgagtcaagaattcagcacatgctgctgaca
gaggacccacagatgcagcccgtgcagacaccctttggggtagttaccttcctccagatc
gttggtgtctgcactgaagagctacactcagcccagcagtggaacgggcagggcatcctg
gagctgctgcggacagtgcctattgctggcggcccctggctgataactgacatgcggagg
ggagagaccatatttgagatcgatccacacctgcaagagagagttgacaaaggcatcgag
acagatggctccaacctgagtggtgtcagtgccaagtgtgcctgggatgacctgagccgg
ccccccgaggatgacgaggacagccggagcatctgcatcggcacacagccccggcgactc
tctggcaaagacacagagcagatccgggagaccctgaggagaggactcgagatcaacagc
aaacctgtccttccaccaatcaaccctcagcggcagaatggcctcgcccacgaccgggcc
ccgagccgcaaagacagcctggaaagtgacagctccacggccatcattccccatgagctg
attcgcacgcggcagcttgagagcgtacatctgaaattcaaccaggagtccggagccctc
attcctctctgcctaaggggcaggctcctgcatggacggcactttacatataaaagtatc
acaggtgacatggccatcacgtttgtctccacgggagtggaaggcgcctttgccactgag
gagcatccttacgcggctcatggaccctggttacaaattctgttgaccgaagagtttgta
gagaaaatgttggaggatttagaagatttgacttctccagaggaattcaaacttcccaaa
gagtacagctggcctgaaaagaagctgaaggtctccatcctgcctgacgtggtgttcgac
agtccgctacactag

KEGG   Homo sapiens (human): 374654
Entry
374654            CDS       T01001                                 
Symbol
KIF7, ACLS, AGBK, HLS2, JBTS12, UNQ340
Name
(RefSeq) kinesin family member 7
  KO
K18806  kinesin family member 7
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
nt06501  HH signaling
  Element
N00010  Mutation-inactivated PTCH1 to Hedgehog signaling pathway
N00017  Mutation-activated SMO to Hedgehog signaling pathway
N00062  Hedgehog signaling pathway
Disease
H00263  Acrocallosal syndrome
H00530  Joubert syndrome and related disorders
H01265  Hydrolethalus syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04340 Hedgehog signaling pathway
    374654 (KIF7)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    374654 (KIF7)
  09162 Cancer: specific types
   05217 Basal cell carcinoma
    374654 (KIF7)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    374654 (KIF7)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Kinesins
     374654 (KIF7)
SSDB
Motif
Pfam: Kinesin Microtub_bd
Other DBs
NCBI-GeneID: 374654
NCBI-ProteinID: NP_940927
OMIM: 611254
HGNC: 30497
Ensembl: ENSG00000166813
Pharos: Q2M1P5(Tbio)
UniProt: Q2M1P5
Structure
LinkDB
Position
15:complement(89617309..89663049)
AA seq 1343 aa
MGLEAQRLPGAEEAPVRVALRVRPLLPKELLHGHQSCLQVEPGLGRVTLGRDRHFGFHVV
LAEDAGQEAVYQACVQPLLEAFFEGFNATVFAYGQTGSGKTYTMGEASVASLLEDEQGIV
PRAMAEAFKLIDENDLLDCLVHVSYLEVYKEEFRDLLEVGTASRDIQLREDERGNVVLCG
VKEVDVEGLDEVLSLLEMGNAARHTGATHLNHLSSRSHTVFTVTLEQRGRAPSRLPRPAP
GQLLVSKFHFVDLAGSERVLKTGSTGERLKESIQINSSLLALGNVISALGDPQRRGSHIP
YRDSKITRILKDSLGGNAKTVMIACVSPSSSDFDETLNTLNYASRAQNIRNRATVNWRPE
AERPPEETASGARGPPRHRSETRIIHRGRRAPGPATASAAAAMRLGAECARYRACTDAAY
SLLRELQAEPGLPGAAARKVRDWLCAVEGERSALSSASGPDSGIESASVEDQAAQGAGGR
KEDEGAQQLLTLQNQVARLEEENRDFLAALEDAMEQYKLQSDRLREQQEEMVELRLRLEL
VRPGWGGPRLLNGLPPGSFVPRPHTAPLGGAHAHVLGMVPPACLPGDEVGSEQRGEQVTN
GREAGAELLTEVNRLGSGSSAASEEEEEEEEPPRRTLHLRRNRISNCSQRAGARPGSLPE
RKGPELCLEELDAAIPGSRAVGGSKARVQARQVPPATASEWRLAQAQQKIRELAINIRMK
EELIGELVRTGKAAQALNRQHSQRIRELEQEAEQVRAELSEGQRQLRELEGKELQDAGER
SRLQEFRRRVAAAQSQVQVLKEKKQATERLVSLSAQSEKRLQELERNVQLMRQQQGQLQR
RLREETEQKRRLEAEMSKRQHRVKELELKHEQQQKILKIKTEEIAAFQRKRRSGSNGSVV
SLEQQQKIEEQKKWLDQEMEKVLQQRRALEELGEELHKREAILAKKEALMQEKTGLESKR
LRSSQALNEDIVRVSSRLEHLEKELSEKSGQLRQGSAQSQQQIRGEIDSLRQEKDSLLKQ
RLEIDGKLRQGSLLSPEEERTLFQLDEAIEALDAAIEYKNEAITCRQRVLRASASLLSQC
EMNLMAKLSYLSSSETRALLCKYFDKVVTLREEQHQQQIAFSELEMQLEEQQRLVYWLEV
ALERQRLEMDRQLTLQQKEHEQNMQLLLQQSRDHLGEGLADSRRQYEARIQALEKELGRY
MWINQELKQKLGGVNAVGHSRGGEKRSLCSEGRQAPGNEDELHLAPELLWLSPLTEGAPR
TREETRDLVHAPLPLTWKRSSLCGEEQGSPEELRQREAAEPLVGRVLPVGEAGLPWNFGP
LSKPRRELRRASPGMIDVRKNPL
NT seq 4032 nt   +upstreamnt  +downstreamnt
atggggctggaggctcagaggctgccaggggctgaggaggccccagtgcgggttgccctg
cgagttcgaccactgctgcccaaggagctgctgcacgggcatcagagctgcctgcaggtg
gagccagggcttggccgcgtcactctgggccgtgaccgacactttggcttccacgtggtg
ctggccgaggatgcggggcaggaggccgtgtaccaggcctgcgttcagcccctccttgag
gccttcttcgagggcttcaatgccactgtctttgcctatggtcagacgggctcagggaag
acatacaccatgggggaggccagtgtggcctccctccttgaggatgagcagggcattgtc
ccgagggccatggccgaggccttcaagctcatcgatgagaacgacctgcttgactgtctg
gtacatgtgtcctacctggaagtgtacaaggaggagttccgagacctgctcgaggtgggc
actgccagccgtgacatccagctccgggaagatgagcgcgggaatgttgtgctgtgcggg
gtgaaggaggtcgacgtggagggcctggatgaggtgctgagcctcctggagatgggcaac
gcggcgcggcacacgggagccacgcacctcaaccacctgtctagccgctcacacacggtc
ttcaccgtgaccctggagcagcgggggcgcgcccccagccgcctaccccgccccgccccg
ggccagctgctcgtctccaagttccacttcgtggacctggcgggctcagagagggtgctc
aagacgggcagcaccggcgagcggctcaaggagagcatccagatcaacagcagcctcctg
gcgctgggcaacgtcatcagcgccctgggggaccctcagcgccggggcagccacataccc
taccgcgactccaagatcacccggatcctcaaagactcgctgggcgggaacgccaagacg
gtgatgatcgcctgcgtcagcccttcctcctccgacttcgacgagaccctcaacaccctc
aactacgccagccgcgcccagaacatccgcaaccgcgccacggtcaactggcggcccgag
gccgagcggccacccgaagagacggcgagcggcgcgcggggtccgccacggcaccgctcc
gagacccgcatcatccaccgcggccggcgcgccccaggcccagccaccgcctccgcggcg
gccgccatgcgcctgggcgccgagtgcgcgcgctaccgggcctgcaccgacgccgcctac
agcctcttgcgcgagctgcaggccgagcccgggctgcccggcgccgccgcccgcaaggtg
cgcgactggctgtgcgccgtcgagggcgagcgcagcgccctgagctccgcctccgggccc
gatagcggcatcgagagcgcctccgtcgaggaccaggcggcgcagggggccggcgggcga
aaggaggatgagggggcgcagcagctgctgaccctgcagaaccaggtggcgcggctggag
gaggagaaccgagactttctggctgcgctggaggacgccatggagcagtacaaactgcag
agcgaccggctgcgtgagcagcaggaggagatggtggaactgcggctgcggttagagctg
gtgcggccaggctgggggggcccgcggctcctgaatggcctgcctcccgggtcctttgtg
cctcgacctcatacagcccccctggggggtgcccacgcccatgtgctgggcatggtgccg
cctgcctgcctccctggagatgaagttggctctgagcagaggggagagcaggtgacaaat
ggcagggaggctggagctgagttgctgactgaggtgaacaggctgggaagtggctcttca
gctgcttcagaggaggaagaggaggaggaggagccgcccaggcggaccttacacctgcgc
agaaataggatcagcaactgcagtcagagggcgggggcacgcccagggagtctgccagag
aggaagggcccagagctttgccttgaggagttggatgcagccattccagggtccagagca
gttggtgggagcaaggcccgagttcaggcccgccaggtcccccctgccacagcctcagag
tggcggctggcccaggcccagcagaagatccgggagctggctatcaacatccgcatgaag
gaggagcttattggcgagctggtccgcacaggaaaggcagctcaggccctgaaccgccag
cacagccagcgtatccgggagctggagcaggaggcagagcaggtgcgggccgagctgagt
gaaggccagaggcagctgcgggagctcgagggcaaggagctccaggatgctggcgagcgg
tctcggctccaggagttccgcaggagggtcgctgcggcccagagccaggtgcaggtgctg
aaggagaagaagcaggctacggagcggctggtgtcactgtcggcccagagtgagaagcga
ctgcaggagctcgagcggaacgtgcagctcatgcggcagcagcagggacagctgcagagg
cggcttcgcgaggagacggagcagaagcggcgcctggaggcagaaatgagcaagcggcag
caccgcgtcaaggagctggagctgaagcatgagcaacagcagaagatcctgaagattaag
acggaagagatcgcggcattccagaggaagaggcgcagtggcagcaacggctctgtggtc
agcctggaacagcagcagaagattgaggagcagaagaagtggctggaccaggagatggag
aaggtgctacagcagcggcgggcgctggaggagctgggggaggagctccacaagcgggag
gccatcctggccaagaaggaggccctgatgcaggagaagacggggctggagagcaagcgc
ctgagatccagccaggccctcaacgaggacatcgtgcgagtgtccagccggctggagcac
ctggagaaggagctgtccgagaagagcgggcagctgcggcagggcagcgcccagagccag
cagcagatccgcggggagatcgacagcctgcgccaggagaaggactcgctgctcaagcag
cgcctggagatcgacggcaagctgaggcaggggagtctgctgtcccccgaggaggagcgg
acgctgttccagttggatgaggccatcgaggccctggatgctgccattgagtataagaat
gaggccatcacatgccgccagcgggtgcttcgggcctcagcctcgttgctgtcccagtgc
gagatgaacctcatggccaagctcagctacctctcatcctcagagaccagagccctcctc
tgcaagtattttgacaaggtggtgacgctccgagaggagcagcaccagcagcagattgcc
ttctcggaactggagatgcagctggaggagcagcagaggctggtgtactggctggaggtg
gccctggagcggcagcgcctggagatggaccgccagctgaccctgcagcagaaggagcac
gagcagaacatgcagctgctcctgcagcagagtcgagaccacctcggtgaagggttagca
gacagcaggaggcagtatgaggcccggattcaagctctggagaaggaactgggccgttac
atgtggataaaccaggaactgaaacagaagctcggcggtgtgaacgctgtaggccacagc
aggggtggggagaagaggagcctgtgctcggagggcagacaggctcctggaaatgaagat
gagctccacctggcacccgagcttctctggctgtcccccctcactgagggggccccccgc
acccgggaggagacgcgggacttggtccacgctccgttacccttgacctggaaacgctcg
agcctgtgtggtgaggagcaggggtcccccgaggaactgaggcagcgggaggcggctgag
cccctggtggggcgggtgcttcctgtgggtgaggcaggcctgccctggaactttgggcct
ttgtccaagccccggcgggaactgcgacgagccagcccggggatgattgatgtccggaaa
aaccccctgtaa

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