KEGG   Homo sapiens (human): 51684
Entry
51684             CDS       T01001                                 
Symbol
SUFU, BCNS2, 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 (cancer)
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
UniProt: Q9UMX1
Structure
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

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