SEPT6
Summary: This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| septin 6 | MIM:300683 | Ensembl:ENSG00000125354 | HGNC:HGNC:15848 | PA134941944 | Xq24 |
Gene Categories:
CELL SURFACEGO terms in SEPT6
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0000777 | condensed chromosome kinetochore |
| CC | IEA | GO:0005819 | spindle |
| CC | IBA | GO:0005940 | septin ring |
| CC | IEA | GO:0005940 | septin ring |
| CC | IEA | GO:0008021 | synaptic vesicle |
| CC | IBA | GO:0015630 | microtubule cytoskeleton |
| CC | IEA | GO:0030496 | midbody |
| CC | IBA | GO:0031105 | septin complex |
| CC | IDA | GO:0031105 | septin complex |
| CC | IBA | GO:0032153 | cell division site |
| CC | IEA | GO:0032154 | cleavage furrow |
| CC | IBA | GO:0032160 | septin filament array |
| CC | IEA | GO:0032173 | septin collar |
| CC | IEA | GO:0043679 | axon terminus |
| CC | IDA | GO:0097227 | sperm annulus |
| BP | IBA | GO:0000281 | mitotic cytokinesis |
| BP | TAS | GO:0000281 | mitotic cytokinesis |
| BP | IBA | GO:0000921 | septin ring assembly |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0016032 | viral process |
| BP | IEA | GO:0030154 | cell differentiation |
| BP | IBA | GO:0034613 | cellular protein localization |
| BP | IBA | GO:0060271 | cilium assembly |
| MF | IBA | GO:0003924 | GTPase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0005525 | GTP binding |
| MF | IBA | GO:0032947 | protein-containing complex scaffold activity |
Gene expression in normal tissue: SEPT6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SEPT6
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa05100 | Bacterial invasion of epithelial cells - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SEPT6
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