SUFU
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SUFU negative regulator of hedgehog signaling | MIM:607035 | Ensembl:ENSG00000107882 | HGNC:HGNC:16466 | PA38146 | 10q24.32 |
GO terms in SUFU
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0003714 | transcription corepressor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008013 | beta-catenin binding |
| MF | IBA | GO:0008134 | transcription factor binding |
| MF | IDA | GO:0008134 | transcription factor binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IMP | GO:0005634 | nucleus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IMP | GO:0005737 | cytoplasm |
| CC | NAS | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0097542 | ciliary tip |
| CC | TAS | GO:0097546 | ciliary base |
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0001501 | skeletal system development |
| BP | IEA | GO:0001843 | neural tube closure |
| BP | IEA | GO:0001947 | heart looping |
| BP | IEA | GO:0003281 | ventricular septum development |
| BP | TAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | TAS | GO:0006508 | proteolysis |
| BP | IBA | GO:0007165 | signal transduction |
| BP | TAS | GO:0007165 | signal transduction |
| BP | TAS | GO:0007275 | multicellular organism development |
| BP | IEA | GO:0021775 | smoothened signaling pathway involved in ventral spinal cord interneuron specification |
| BP | IEA | GO:0021776 | smoothened signaling pathway involved in spinal cord motor neuron cell fate specification |
| BP | IEA | GO:0035904 | aorta development |
| BP | TAS | GO:0042308 | negative regulation of protein import into nucleus |
| BP | IBA | GO:0042994 | cytoplasmic sequestering of transcription factor |
| BP | IBA | GO:0043433 | negative regulation of DNA-binding transcription factor activity |
| BP | TAS | GO:0043433 | negative regulation of DNA-binding transcription factor activity |
| BP | IEA | GO:0043588 | skin development |
| BP | TAS | GO:0045668 | negative regulation of osteoblast differentiation |
| BP | IMP | GO:0045879 | negative regulation of smoothened signaling pathway |
| BP | TAS | GO:0045879 | negative regulation of smoothened signaling pathway |
| BP | IEA | GO:0060976 | coronary vasculature development |
| BP | IEA | GO:1901621 | negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning |
| BP | IEA | GO:2000059 | negative regulation of ubiquitin-dependent protein catabolic process |
Gene expression in normal tissue: SUFU
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SUFU
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP4249 | Hedgehog Signaling Pathway |
| wikipathways | WP47 | Hedgehog Signaling Pathway |
| netpath | Pathway_Hedgehog | Hedgehog |
| pid | hedgehog_glipathway | Hedgehog signaling events mediated by Gli proteins |
| kegg | hsa04340 | Hedgehog signaling pathway - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05217 | Basal cell carcinoma - Homo sapiens (human) |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-5358351 | Signaling by Hedgehog |
| reactome | R-HSA-5358351 | Signaling by Hedgehog |
| reactome | R-HSA-5610780 | Degradation of GLI1 by the proteasome |
| reactome | R-HSA-5610780 | Degradation of GLI1 by the proteasome |
| reactome | R-HSA-5610783 | Degradation of GLI2 by the proteasome |
| reactome | R-HSA-5610785 | GLI3 is processed to GLI3R by the proteasome |
| reactome | R-HSA-5610787 | Hedgehog 'off' state |
| reactome | R-HSA-5610787 | Hedgehog 'off' state |
| reactome | R-HSA-5632684 | Hedgehog 'on' state |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD103 | SN-38 | 3 |
| iGMDRD5 | Tyrphostin AG 1478 | 3 |
| iGMDRD171 | Pemetrexed | 1 |
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD286 | Nsc 632839 | 4 |
| iGMDRD188 | Piperlongumine | 8 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD886 | Compound 1541A | 2 |
| iGMDRD512 | nutlin 3 | 4 |
| iGMDRD670 | ML 210 | 3 |
| iGMDRD150 | RITA | 5 |
| iGMDRD701 | NVP-AUY922 | 2 |
| iGMDRD494 | Neopeltolide | 1 |
| iGMDRD85 | Ursolic acid | 4 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD211 | (1S,3R)-RSL3 | 3 |
| iGMDRD511 | CHEMBL399379 | 3 |
| iGMDRD375 | GW-405833 | 3 |
| iGMDRD634 | SCHEMBL2608041 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SUFU
CLASSFICATION
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