KEGG   Homo sapiens (human): 51684Help
Entry
51684             CDS       T01001                                 

Gene name
SUFU, JBTS32, PRO1280, SUFUH, SUFUXL
Definition
(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
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
H00530  Joubert syndrome
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: SUFU_C SUFU
Motif
Other DBs
NCBI-GeneID: 51684
NCBI-ProteinID: NP_057253
OMIM: 607035
HGNC: 16466
Ensembl: ENSG00000107882
Vega: OTTHUMG00000018966
Pharos: Q9UMX1(Tbio)
UniProt: Q9UMX1
Structure
PDB: 

Position
10q24.32
AA seq 484 aa AA seqDB search
MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKY
WLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFEL
TFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLT
EDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRL
SGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHEL
IRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATE
EHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFD
SPLH
NT seq 1455 nt NT seq  +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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