SEPTIN5
Septin 5, a member of the septin family involved in cytokinesis and vesicle trafficking
Gene Information Card
| Symbol | SEPTIN5 |
|---|---|
| Full Name | Septin 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 5413 ncbi.nlm.nih.gov/gene/5413 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q99719 |
| OMIM ID | 602678 |
| HGNC ID | 10750 |
| Aliases | CDCrel-1, H5, PNUTL2, SEPT5 |
Description
SEPTIN5 encodes a member of the septin family of GTP-binding proteins. Septins are involved in cytokinesis, vesicle trafficking, and cytoskeletal organization. SEPTIN5 is highly expressed in the brain and platelets, and has been implicated in neurodegenerative diseases and platelet function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary neuralgic amyotrophy (HNA) | Missense mutations in SEPTIN5 may disrupt septin complex assembly, affecting axonal integrity | PMID: 20301617 |
| Parkinson disease | SEPTIN5 interacts with alpha-synuclein and may contribute to Lewy body formation | PMID: 20080797 |
| Thrombocytopenia | Altered SEPTIN5 expression affects platelet formation and function | PMID: 24343086 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 30.2 | High |
| Platelets | 25.1 | High |
| Lung | 8.5 | Medium |
| Heart | 6.3 | Medium |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 28.4 | High expression |
| HEK293 (embryonic kidney) | 12.7 | Moderate expression |
| K562 (leukemia) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg97Cys | Missense | <0.01% | Alters GTP-binding affinity |
| p.Gly102Arg | Missense | <0.01% | Disrupts septin filament formation |
| c.357+1G>A | Splice site | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Splice site mutations and some missense variants reduce SEPTIN5 protein stability or disrupt GTP binding, impairing septin complex assembly.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the GTP-binding domain may act in a dominant-negative manner by incorporating into septin filaments and disrupting their function.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • cytoskeleton (GO:0005856) | • cell division (GO:0051301) |
| • vesicle-mediated transport (GO:0016192) |
Pathways
• Septin signaling pathway (Reactome: R-HSA-5620912)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
SEPTIN5 is a 369-amino acid GTP-binding protein that forms heteromeric septin filaments. It localizes to the cleavage furrow during cytokinesis and to presynaptic terminals in neurons. In platelets, SEPTIN5 regulates granule secretion. The protein contains a central GTPase domain and a C-terminal coiled-coil region.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN5 Knockout HEK293 Cell Line | EDJ-KQ5500 | Human | 5413 | Details Get a Quote |
| SEPTIN5 Knockout A-549 Cell Line | EDJ-KQ28734 | Human | 5413 | Details Get a Quote |
| SEPTIN5 Knockout HCT 116 Cell Line | EDJ-KQ28735 | Human | 5413 | Details Get a Quote |
| SEPTIN5 Knockout HeLa Cell Line | EDJ-KQ28736 | Human | 5413 | Details Get a Quote |
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