| URN | urn:agi-llid:51684 |
|---|---|
| Connectivity | 33 |
| Name | Sufu |
| Description | suppressor of fused homolog (Drosophila) |
| Notes | 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. |
| Pathway | Hedgehog signaling pathway |
|---|
| GO Molecular Function | signal transducer activity |
|---|---|
| beta-catenin binding | |
| transcription factor binding | |
| transcription corepressor activity | |
| specific transcriptional repressor activity |
| GO Cellular Component | cilium |
|---|---|
| cytoplasm | |
| nucleolus | |
| nucleus |
| GO Biological Process | multicellular organismal development |
|---|---|
| neural tube closure | |
| spinal cord dorsal-ventral patterning | |
| determination of left-right symmetry | |
| skeletal system development | |
| skin development | |
| heart looping | |
| signal transduction | |
| negative regulation of smoothened signaling pathway | |
| negative regulation of transcription from RNA polymerase II promoter | |
| negative regulation of gene-specific transcription from RNA polymerase II promoter | |
| regulation of transcription, DNA-dependent | |
| cytoplasmic sequestering of transcription factor | |
| proteolysis |
| Ariadne Ontology | Transcription factors |
|---|
| Group | Transcription factors |
|---|---|
| multicellular organismal development | |
| neural tube closure | |
| spinal cord dorsal-ventral patterning | |
| determination of left-right symmetry | |
| skeletal system development | |
| skin development | |
| heart looping | |
| signal transduction | |
| negative regulation of smoothened signaling pathway | |
| negative regulation of transcription from RNA polymerase II promoter | |
| negative regulation of gene-specific transcription from RNA polymerase II promoter | |
| regulation of transcription, DNA-dependent | |
| cytoplasmic sequestering of transcription factor | |
| proteolysis | |
| signal transducer activity | |
| beta-catenin binding | |
| transcription factor binding | |
| transcription corepressor activity | |
| specific transcriptional repressor activity | |
| cilium | |
| cytoplasm | |
| nucleolus | |
| nucleus |
| MedScan ID | 51684 |
|---|
| Hugo ID | 16466 |
|---|
| Human chromosome position | 10q24.32 |
|---|
| LocusLink ID | 51684 |
|---|---|
| 24069 | |
| 361769 |
| Alias | SUFUH |
|---|---|
| SUFUXL | |
| PRO1280 | |
| RP11-47A8.1 | |
| suppressor of fused homolog | |
| OTTHUMP00000020377 | |
| OTTHUMP00000020378 | |
| OTTHUMP00000020379 | |
| Su(fu) | |
| 2810026F04Rik | |
| OTTMUSP00000039625 | |
| 2810026F04 | |
| likely ortholog of mouse suppressor of fused homolog | |
| likely ortholog of suppressor of fused homolog | |
| LOC51684 | |
| OTTHUMP00000020374 | |
| OTTHUMP00000059161 | |
| Sufu | |
| Suppressor of fused | |
| suppressor of fused homolog (Drosophila) |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 607035 |
|---|---|
| 155255 |
| Mouse chromosome position | 19 47.0 cM |
|---|
| GO ID | 0008013 |
|---|---|
| 0004871 | |
| 0016566 | |
| 0003714 | |
| 0008134 | |
| 0042994 | |
| 0007368 | |
| 0001947 | |
| 0007275 | |
| 0010553 | |
| 0045879 | |
| 0001843 | |
| 0006508 | |
| 0006355 | |
| 0007165 | |
| 0001501 | |
| 0043588 | |
| 0021513 | |
| 0005929 | |
| 0005737 | |
| 0005730 | |
| 0005634 | |
| 0000122 |
| Rat chromosome position | 1q54 |
|---|
| Swiss-Prot Accession | Q9UMX1 |
|---|---|
| Q5JSM0 | |
| Q5JSM1 | |
| Q9Z0P7 | |
| Q3U0Z8 | |
| Q4V8C6 | |
| Q8C8B4 | |
| Q99JG0 | |
| Q9D521 | |
| Q9JLU1 | |
| Q7LCP7 | |
| Q9NT90 | |
| Q9NZ07 | |
| Q9UHK2 | |
| Q9UHM8 | |
| Q9UMY0 |
| PIR ID | T46409 |
|---|
| Unigene ID | Hs.404089 |
|---|---|
| Mm.41210 | |
| Rn.211670 |
| KEGG ID | hsa:51684 |
|---|---|
| mmu:24069 | |
| rno:361769 |
| Swiss-Prot ID | SUFU_MOUSE |
|---|---|
| SUFU_HUMAN | |
| Q4V8C6_RAT | |
| Q3U0Z8_MOUSE |
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus |
| IPI ID | IPI00124718 |
|---|---|
| IPI00137696 | |
| IPI00466980 | |
| IPI00554964 | |
| IPI00099179 | |
| IPI00556458 | |
| IPI00556521 | |
| IPI00372535 | |
| IPI00643793 | |
| IPI00644765 | |
| IPI00643995 | |
| IPI00885402 | |
| IPI00203200 |
| Homologene ID | 9262 |
|---|
| RGD ID | 1559462 |
|---|
| MGI ID | 1345643 |
|---|