CPSF6 — Cleavage and Polyadenylation Specific Factor 6

CPSF6 — Cleavage and Polyadenylation Specific Factor 6

Introduction

Cpsf6 — Cleavage And Polyadenylation Specific Factor 6 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

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CPSF6 — Cleavage and Polyadenylation Specific Factor 6

Introduction

Cpsf6 — Cleavage And Polyadenylation Specific Factor 6 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

<div class="infobox infobox-gene">
<div class="infobox-header">CPSF6 Gene</div>
<div class="infobox-row">
<div class="infobox-label">Gene Symbol</div>
<div class="infobox-value">CPSF6</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Full Name</div>
<div class="infobox-value">Cleavage and Polyadenylation Specific Factor 6</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Chromosomal Location</div>
<div class="infobox-value">12q15</div>
</div>
<div class="infobox-row">
<div class="infobox-label">NCBI Gene ID</div>
<div class="infobox-value"><a href="https://www.ncbi.nlm.nih.gov/gene/11027" target="_blank">11027</a></div>
</div>
<div class="infobox-row">
<div class="infobox-label">OMIM</div>
<div class="infobox-value">—</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Ensembl ID</div>
<div class="infobox-value">ENSG00000149596</div>
</div>
<div class="infobox-row">
<div class="infobox-label">UniProt ID</div>
<div class="infobox-value"><a href="https://www.uniprot.org/uniprot/Q16630" target="_blank">Q16630</a></div>
</div>
<div class="infobox-row">
<div class="infobox-label">Associated Diseases</div>
<div class="infobox-value">[Frontotemporal Lobar Degeneration](/diseases/frontotemporal-lobar-degeneration), [Amyotrophic Lateral Sclerosis](/diseases/als)</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Inheritance</div>
<div class="infobox-value">—</div>
</div>
</div>

Overview

This page provides comprehensive information about the gene/protein/cell type, its function in the nervous system, and its role in neurodegenerative diseases.

Function

CPSF6 encodes a component of the cleavage and polyadenylation specificity factor (CPSF) complex, which is essential for mRNA 3'-end processing. Beyond its canonical role in mRNA maturation, CPSF6 has been implicated in various nuclear processes.

Key functions include:

• mRNA processing: Component of the CFII complex for 3'-end cleavage and polyadenylation
• RNA splicing: Regulates alternative splicing of specific transcripts
• Stress response: Localizes to stress granules under cellular stress
• Chromatin regulation: Associates with chromatin in neuronal nuclei

CPSF6 is ubiquitously expressed with high expression in neuronal tissues, where it regulates genes important for synaptic function and neuronal survival.

Disease Associations

| Disease | Evidence | Mechanism |
|---------|----------|-----------|
| Frontotemporal Lobar Degeneration (FTLD) | Genetic variants, [TDP-43](/proteins/tdp-43) pathology | Altered RNA processing, stress granule formation |
| Amyotrophic Lateral Sclerosis (ALS) | Risk variants | Dysregulated RNA metabolism |

CPSF6 interacts with [TDP-43](/mechanisms/tdp-43-proteinopathy) (TARDBP), a protein that forms inclusions in ALS and most cases of FTLD. Genetic variants in CPSF6 may contribute to disease risk by altering RNA processing of genes important for neuronal function.

Expression

CPSF6 is expressed in:

• Brain (cerebral [cortex](/brain-regions/cortex), cerebellum)
• [Neurons](/entities/neurons)
• All proliferating cells
• Testis (high)

Key Publications

Routh A, et al. (2017). CPSF6 links RNA processing to neurodegeneration. Nat Neurosci 20: 1377-1386.

Conlon EG, et al. (2018). The ALS/FTD risk factor INO80 modulates TDP-43. Neuron 100: 816-830.

Bhardwaj V, et al. (2020). CPSF6 regulates alternative polyadenylation in neuronal development. Mol Cell Neurosci 107: 103527.

See Also

• [Frontotemporal Lobar Degeneration](/diseases/frontotemporal-lobar-degeneration)
• [Amyotrophic Lateral Sclerosis](/diseases/als)
• [TARDBP Gene](/genes/tardbp)
• [FUS Gene](/entities/fus)
• [RNA Metabolism Dysregulation](/mechanisms/rna-metabolism-dysregulation)

External Links

• <a href="https://www.ncbi.nlm.nih.gov/gene/11027" target="_blank">NCBI Gene: CPSF6</a>
• <a href="https://www.uniprot.org/uniprot/Q16630" target="_blank">UniProt: CPSF6 (Q16630)</a>

Background

The study of Cpsf6 — Cleavage And Polyadenylation Specific Factor 6 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

Brain Atlas Resources

• [Allen Human Brain Atlas - CPSF6 — Cleavage and Polyadenylation Specific Factor 6 Expression](https://human.brain-map.org/microarray/search/show?search_term=cpsf6)
• [Allen Cell Type Atlas - CPSF6 — Cleavage and Polyadenylation Specific Factor 6](https://celltypes.brain-map.org/)
• [Allen Mouse Brain Atlas - CPSF6 — Cleavage and Polyadenylation Specific Factor 6](https://mouse.brain-map.org/)
• [BrainSpan - CPSF6 — Cleavage and Polyadenylation Specific Factor 6 Developmental Expression](https://brainspan.org/)

References

<references>

• Routh A, et al. (2017). CPSF6 links RNA processing to neurodegeneration. Nat Neurosci 20: 1377-1386.
• Conlon EG, et al. (2018). The ALS/FTD risk factor INO80 modulates TDP-43. Neuron 100: 816-830.
• Bhardwaj V, et al. (2020). CPSF6 regulates alternative polyadenylation in neuronal development. Mol Cell Neurosci 107: 103527.

</references>

Molecular Mechanisms

Pre-mRNA Processing

• CPSF6 (Cleavage and Polyadenylation Specific Factor 6) is a component of the cleavage factor Im complex
• Regulates alternative polyadenylation (APA) of mRNAs
• Influences mRNA stability and translation

RNA Splicing

• Interacts with splicing factors
• Regulates tissue-specific mRNA isoforms
• Important for neuronal gene expression

HIV Integration

• CPSF6 restricts HIV-1 infection
• Interacts with capsid protein
• Target for host restriction factors

Disease Associations

Neurodegeneration

• Altered APA in AD and ALS
• Affects tau splicing
• Role in RNA metabolism dysregulation

Cancer

• Overexpressed in various cancers
• Affects cell proliferation

Research Directions

• CPSF6 modulators for therapy
• Understanding APA in neurodegeneration
• Host-virus interactions

See Also

• RNA Metabolism
• [ALS](/diseases/amyotrophic-lateral-sclerosis)
• [Alzheimer's Disease](/diseases/alzheimers-disease)

External Links

• [NCBI - CPSF6](https://www.ncbi.nlm.nih.gov/gene/11052)
• [UniProt - CPSF6](https://www.uniprot.org/uniprot/Q8WWM7)