SEPTIN11
Septin 11, a member of the septin family of GTP-binding proteins involved in cytokinesis, cell polarity, and vesicle trafficking.
Gene Information Card
| Symbol | SEPTIN11 |
|---|---|
| Full Name | Septin 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.1 |
| NCBI Gene ID | 63924 ncbi.nlm.nih.gov/gene/63924 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q9NVA2 |
| OMIM ID | 612447 |
| HGNC ID | 25510 |
| Aliases | SEPT11, FLJ10849, MGC44947 |
Description
SEPTIN11 encodes a member of the septin family of GTP-binding proteins. Septins are involved in cytokinesis, cell polarity, vesicle trafficking, and cytoskeletal organization. SEPTIN11 forms heteromeric complexes with other septins and is implicated in various cellular processes including cell division and membrane dynamics. Altered expression and mutations have been associated with several cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Fusion partner of MLL; SEPTIN11-MLL fusion disrupts normal hematopoiesis | COSMIC, PMID: 15194111 |
| Breast cancer | Overexpression and altered localization contribute to tumor progression | COSMIC, PMID: 21573174 |
| Colorectal cancer | Downregulation associated with poor prognosis | COSMIC, PMID: 23429704 |
| Neuroblastoma | Hypermethylation of SEPTIN11 promoter leads to reduced expression | COSMIC, PMID: 19029982 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Spleen | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 8.2 | Low expression |
| MCF7 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly241Arg | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| p.Arg264Trp | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.1234_1235insA | Frameshift insertion | <0.1% | Predicted loss of function |
| SEPTIN11-MLL fusion | Gene fusion | Rare | Oncogenic; disrupts MLL function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of function; promoter hypermethylation reduces expression in neuroblastoma.
Gain of Function (GOF)
Not well characterized; overexpression in breast cancer may contribute to tumorigenesis.
Dominant Negative (DN)
Not reported for SEPTIN11.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cytoskeleton | • cell division |
| • cytokinesis | • protein homodimerization activity |
| • septin complex |
Pathways
• Septin signaling
• Cytokinesis
• Cell cycle
Protein Summary
SEPTIN11 is a 429-amino acid GTP-binding protein that localizes to the cytoplasm and the cell cortex. It forms filamentous structures and interacts with other septins (e.g., SEPT2, SEPT9) to regulate cytokinesis, cell polarity, and membrane trafficking. The protein contains a central GTPase domain and a C-terminal coiled-coil region. Post-translational modifications include phosphorylation and sumoylation, which modulate its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN11 Knockout HEK293 Cell Line | EDJ-KQ15226 | Human | 55752 | Details Get a Quote |
| SEPTIN11 Knockout HCT 116 Cell Line | EDJ-KQ45888 | Human | 55752 | Details Get a Quote |
| SEPTIN11 Knockout HeLa Cell Line | EDJ-KQ45889 | Human | 55752 | Details Get a Quote |
| SEPTIN11 Knockout A-549 Cell Line | EDJ-KQ48072 | Human | 55752 | Details Get a Quote |
