Homo sapiens Gene: SUFU
Summary
InnateDB Gene IDBG-88119.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SUFU
Gene Name suppressor of fused homolog (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000107882
Encoded Proteins
suppressor of fused homolog (Drosophila)
suppressor of fused homolog (Drosophila)
suppressor of fused homolog (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:102503987-102633535
Strand Forward strand
Band q24.32
Transcripts
ENST00000369902 ENSP00000358918
ENST00000369899 ENSP00000358915
ENST00000423559 ENSP00000411597
ENST00000471000
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 20 interaction(s) predicted by orthology.
Experimentally validated
Total 30 [view]
Protein-Protein 27 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 20 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003714 transcription corepressor activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0008134 transcription factor binding
GO:0019901 protein kinase binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001843 neural tube closure
GO:0001947 heart looping
GO:0006355 regulation of transcription, DNA-templated
GO:0006508 proteolysis
GO:0007165 signal transduction
GO:0007275 multicellular organismal development
GO:0007368 determination of left/right symmetry
GO:0021513 spinal cord dorsal/ventral patterning
GO:0021775 smoothened signaling pathway involved in ventral spinal cord interneuron specification
GO:0021776 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
GO:0042992 negative regulation of transcription factor import into nucleus
GO:0042994 cytoplasmic sequestering of transcription factor
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043588 skin development
GO:0045668 negative regulation of osteoblast differentiation
GO:0045879 negative regulation of smoothened signaling pathway
GO:1901621 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:2000059 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005929 cilium
GO:0072372 primary cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
Hedgehog pathway
REACTOME
Signaling by Hedgehog pathway
Degradation of GLI2 by the proteasome pathway
GLI3 is processed to GLI3R by the proteasome pathway
Degradation of GLI1 by the proteasome pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
KEGG
Hedgehog signaling pathway pathway
Basal cell carcinoma pathway
Pathways in cancer pathway
INOH
Hedgehog signaling pathway pathway
PID NCI
Hedgehog signaling events mediated by Gli proteins
Cross-References
SwissProt Q9UMX1
TrEMBL
UniProt Splice Variant
Entrez Gene 51684
UniGene Hs.404089
RefSeq NM_001178133 NM_016169 XM_006717892
HUGO HGNC:16466
OMIM 607035
CCDS CCDS53571 CCDS7537
HPRD
IMGT
EMBL AF144231 AF159447 AF172319 AF175770 AF222345 AL121928 AL137465 AL157386 AL391121 AY081818 AY081819 AY081820 AY081821 AY081822 AY081823 AY081824 AY081825 AY081826 AY081827 AY081828 AY081829 AY358550 BC013291
GenPept AAD50501 AAD51655 AAF23890 AAF23893 AAF35866 AAH13291 AAM08947 AAQ88914 CAB70752 CAI12525 CAI12526 CAI39614 CAI39615 CAI40864 CAI40865
RNA Seq Atlas 51684