SEPTIN11 Gene

title: SEPTIN11 Gene

SEPTIN11 Gene

SEPTIN11 is a member of the septin family of GTP-binding proteins that play critical roles in cytoskeletal organization, membrane dynamics, and cell division. In the nervous system, SEPTIN11 is expressed in [neurons](/entities/neurons) and has been implicated in synaptic function, neuronal development, and potentially in neurodegenerative disease pathogenesis. [@septin]

Gene Information

<div class="infobox infobox-gene"> [@septin2019]

| Property | Value |
|----------|-------|
| Gene Symbol | SEPTIN11 |
| Gene Name | Septin 11 |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | [83452](https://www.ncbi.nlm.nih.gov/gene/83452) |
| OMIM | [607284](https://www.omim.org/entry/607284) |
| UniProt | [Q9NVE5](https://www.uniprot.org/uniprot/Q9NVE5) |
| Aliases | SEPT11, Septin-11 |
| Gene Type | Protein coding |
| Protein Length | 493 amino acids |

</div>

Septin Protein Family

Overview

Septins are a family of GTP-binding proteins that form hetero-oligomeric complexes and filamentous structures. They serve as scaffolds and diffusion barriers in various cellular processes:

• Cytokinesis: Forming the contractile ring
• Membrane Organization: Organizing plasma membrane domains
• Cellular Transport: Acting as barriers to diffusion
• Synaptic Function: Localizing at synaptic terminals

SEPTIN11 in the Septin Family

SEPTIN11 belongs to the septin family which includes:

...

title: SEPTIN11 Gene

SEPTIN11 Gene

SEPTIN11 is a member of the septin family of GTP-binding proteins that play critical roles in cytoskeletal organization, membrane dynamics, and cell division. In the nervous system, SEPTIN11 is expressed in [neurons](/entities/neurons) and has been implicated in synaptic function, neuronal development, and potentially in neurodegenerative disease pathogenesis. [@septin]

Gene Information

<div class="infobox infobox-gene"> [@septin2019]

| Property | Value |
|----------|-------|
| Gene Symbol | SEPTIN11 |
| Gene Name | Septin 11 |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | [83452](https://www.ncbi.nlm.nih.gov/gene/83452) |
| OMIM | [607284](https://www.omim.org/entry/607284) |
| UniProt | [Q9NVE5](https://www.uniprot.org/uniprot/Q9NVE5) |
| Aliases | SEPT11, Septin-11 |
| Gene Type | Protein coding |
| Protein Length | 493 amino acids |

</div>

Septin Protein Family

Overview

Septins are a family of GTP-binding proteins that form hetero-oligomeric complexes and filamentous structures. They serve as scaffolds and diffusion barriers in various cellular processes:

• Cytokinesis: Forming the contractile ring
• Membrane Organization: Organizing plasma membrane domains
• Cellular Transport: Acting as barriers to diffusion
• Synaptic Function: Localizing at synaptic terminals

SEPTIN11 in the Septin Family

SEPTIN11 belongs to the septin family which includes:

• SEPT1-14 (in mammals)
• Form heteromeric complexes (typically hexamers or octamers)
• Exhibit tissue-specific expression patterns

Protein Structure

Domain Architecture

SEPTIN11 contains:

N-Terminal Polybasic Region: Membrane interaction

GTP-Binding Domain (G domain): Nucleotide binding and hydrolysis

Central Helical Domain: Protein-protein interactions

C-Terminal Proline-Rich Region: Regulatory interactions

GTP Binding and Hydrolysis

Like other septins, SEPTIN11 binds GTP and has intrinsic GTPase activity:

• GDP-bound form: Filament assembly
• GTP-bound form: Membrane association
• Switch between states regulates function

Expression and Localization

Brain Expression

SEPTIN11 is expressed in various brain regions:

• Cerebral [Cortex](/brain-regions/cortex): Pyramidal neurons
• [Hippocampus](/brain-regions/hippocampus): CA1-CA3 regions, dentate gyrus
• Cerebellum: Purkinje cells, granule cells
• Basal Ganglia: Striatal neurons
• Substantia Nigra: Dopaminergic neurons

Subcellular Localization

• Synaptic Vesicles: Localizes to presynaptic terminals
• [Dendritic Spines](/mechanisms/dendritic-spines): Present in postsynaptic densities
• Axon Initial Segment: Forms diffusion barriers
• Mitochondria: Associated with mitochondrial membranes

Function in the Nervous System

Synaptic Function

SEPTIN11 plays several roles at synapses:

Synaptic Vesicle Trafficking: Organizing vesicle pools

Neurotransmitter Release: Regulating exocytosis

Synaptic Plasticity: Involved in [LTP](/mechanisms/long-term-potentiation) and LTD

Dendritic Spine Morphogenesis: Maintaining spine structure

Cytoskeletal Organization

Septins interact with actin and microtubule cytoskeletons:

• Forming membrane microdomains
• Organizing dendritic branching
• Regulating axonal transport
• Supporting neuronal polarity

Membrane Protein Localization

Septins create diffusion barriers:

• Restricting membrane protein distribution
• Localizing receptors and channels
• Maintaining synaptic specialization

Role in Neurodegeneration

Alzheimer's Disease

Septin abnormalities have been reported in AD:

• SEPTIN11 aggregates found in AD brain tissue
• Potential interaction with [tau](/proteins/tau) pathology
• Altered septin expression in vulnerable neurons

Parkinson's Disease

• SEPTIN11 potentially involved in [alpha-synuclein](/proteins/alpha-synuclein) aggregation
• May affect dopaminergic neuron function
• Altered expression in substantia nigra

Amyotrophic Lateral Sclerosis (ALS)

• SEPTIN mutations linked to familial ALS
• SEPTIN11 variants under investigation
• Potential role in cytoskeletal dysfunction

Epilepsy

• SEPTIN dysregulation affects neuronal excitability
• Potential therapeutic target

Disease Associations

Neurodevelopmental Disorders

SEPTIN11 and other septins have been implicated in:

• Intellectual disability
• Autism spectrum disorders
• Schizophrenia
• Congenital neurological anomalies

Neurodegenerative Diseases

• Alzheimer's disease
• [Parkinson's disease](/diseases/parkinsons-disease) Amyotrophic lateral sclerosis
• Huntington's disease

Therapeutic Implications

Biomarkers

Septin proteins may serve as:

• Diagnostic biomarkers
• Disease progression markers
• Therapeutic response indicators

Therapeutic Targets

Potential therapeutic approaches:

• Septin-modulating compounds
• Gene therapy approaches
• Small molecule inhibitors

Interacting Partners

SEPTIN11 interacts with:

• Other septins (SEPT2, SEPT5, SEPT6, SEPT7)
• Actin cytoskeleton components
• Synaptic proteins (synapsin, synaptophysin)
• Membrane proteins and receptors
• Motor proteins (kinesin, dynein)

Research Directions

Key questions remain:

What are the specific neuronal functions of SEPTIN11?

How do septin alterations contribute to neurodegeneration?

Can septin-based therapies be developed?

What determines neuronal vulnerability to septin dysfunction?

See Also

• SEPTIN Family
• [Cytoskeleton](/mechanisms/cytoskeleton-disruption)
• Synaptic Function
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)

External Links

• [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/83452)
• [OMIM](https://www.omim.org/entry/607284)
• [UniProt](https://www.uniprot.org/uniprot/Q9NVE5)
• [Ensembl](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=SEPTIN11)
• [GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPTIN11)

References

Unknown, NCBI Gene - SEPTIN11 (n.d.)

[Hall et al., SEPTIN mutations in neurological diseases (2015) (2015)](https://pubmed.ncbi.nlm.nih.gov/26122755/)

Unknown, Septins in Neuronal Development and Function (n.d.)

[Unknown, SEPTIN Mutations and Neurodevelopmental Disorders (n.d.)](https://doi.org/10.1093/hmg/ddv260)

Unknown, Septin Cytoskeleton in Neurodegeneration (2019)