SEPTIN1
Septin 1, a member of the septin family of GTP-binding cytoskeletal proteins involved in cytokinesis, cell polarity, and vesicle trafficking.
Gene Information Card
| Symbol | SEPTIN1 |
|---|---|
| Full Name | Septin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 1731 ncbi.nlm.nih.gov/gene/1731 |
| Ensembl ID | ENSG00000140678 |
| UniProt ID | Q15019 |
| OMIM ID | 602447 |
| HGNC ID | 10799 |
| Aliases | SEPT1, DIFF6, SEPTIN1 |
Description
SEPTIN1 encodes a member of the septin family of GTP-binding proteins. Septins are evolutionarily conserved cytoskeletal components that form filamentous scaffolds and are essential for cytokinesis, cell polarity, membrane dynamics, and vesicle trafficking. SEPTIN1 is widely expressed and can heteropolymerize with other septins. Alterations in septin expression and localization have been implicated in various human diseases, including cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | SEPTIN1-MLL fusion due to t(11;16)(q23;p11) translocation; disrupts normal hematopoiesis | COSMIC, NCBI |
| Breast cancer | Altered SEPTIN1 expression and localization may contribute to tumorigenesis | NCBI, PubMed |
| Neurodegenerative disorders | Septin aggregation and dysfunction implicated in Alzheimer disease and Parkinson disease | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Low |
| Testis | 15.3 | Medium |
| Spleen | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
| K562 | 12.3 | Leukemia cell line |
| MCF7 | 9.0 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance |
| SEPTIN1-MLL fusion | translocation | Rare | Oncogenic; associated with acute myeloid leukemia |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SEPTIN1 are rare and may impair cytokinesis or cell polarity, but specific disease associations are not well established.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for SEPTIN1.
Dominant Negative (DN)
SEPTIN1-MLL fusion acts as a dominant-negative oncoprotein by disrupting normal septin complex assembly and MLL function.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cytoskeleton | • cell division |
| • cytokinesis | • septin complex |
| • cell cycle | • protein homooligomerization |
Pathways
• Septin signaling
• Cytokinesis
• Cell cycle
Protein Summary
SEPTIN1 is a 347-amino acid GTP-binding protein that belongs to the septin family. It contains a conserved GTPase domain and a C-terminal coiled-coil region. SEPTIN1 polymerizes with other septins to form heteromeric filaments and rings that are essential for cytokinesis, cell polarity, and membrane compartmentalization. The protein is localized to the cleavage furrow during cell division and to the cytoskeleton in interphase cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN1 Knockout HEK293 Cell Line | EDJ-KQ4444 | Human | 1731 | Details Get a Quote |
| SEPTIN12 Knockout HEK293 Cell Line | EDJ-KQ8540 | Human | 124404 | Details Get a Quote |
| SEPTIN10 Knockout HEK293 Cell Line | EDJ-KQ11317 | Human | 151011 | Details Get a Quote |
| SEPTIN11 Knockout HEK293 Cell Line | EDJ-KQ15226 | Human | 55752 | Details Get a Quote |
| SEPTIN14 Knockout HEK293 Cell Line | EDJ-KQ15227 | Human | 346288 | Details Get a Quote |
| SEPTIN10 Knockout HeLa Cell Line | EDJ-KQ38135 | Human | 151011 | 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 |
| SEPTIN1 Knockout HeLa Cell Line | EDJ-KQ25729 | Human | 1731 | Details Get a Quote |
| SEPTIN10 Knockout A-549 Cell Line | EDJ-KQ39459 | Human | 151011 | Details Get a Quote |
| SEPTIN10 Knockout HCT 116 Cell Line | EDJ-KQ39460 | Human | 151011 | Details Get a Quote |
| SEPTIN12 Knockout HeLa Cell Line | EDJ-KQ58129 | Human | 124404 | Details Get a Quote |
| SEPTIN14 Knockout HeLa Cell Line | EDJ-KQ59797 | Human | 346288 | Details Get a Quote |
| SEPTIN12 Knockout A-549 Cell Line | EDJ-KQ66616 | Human | 124404 | Details Get a Quote |
