HNRNPUL1 Gene

📖 Wiki Page

gene790 wordssynced 2026-04-02

HNRNPUL1 — hnRNP U-Like Protein 1

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">HNRNPUL1 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>HNRNPUL1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Heterogeneous Nuclear Ribonucleoprotein U-Like 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>19q13.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>11100</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000105388</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>Q9BUJ2</td>
</tr>
<tr>
<td class="label">Molecular Weight</td>
<td>~100 kDa</td>
</tr>
<tr>
<td class="label">Protein Type</td>
<td>RNA-Binding Protein</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Overview

Hnrnpul1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

...

HNRNPUL1 — hnRNP U-Like Protein 1

Overview

Introduction

The HNRNPUL1 gene (Heterogeneous Nuclear Ribonucleoprotein U-Like 1) encodes a crucial RNA-binding protein involved in RNA processing, transcription regulation, DNA repair, and genome stability. HNRNPUL1 is a member of the hnRNP U family, which plays essential roles in neuronal function and is implicated in neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), Alzheimer's disease, and Ataxia-telangiectasia.

Gene Information

Protein Structure

HNRNPUL1 contains several functional domains:

N-terminal Region: Contains glycine-rich domains for nucleic acid binding

Central Region: Pre-LSM (Like-Sm) domain

C-terminal Region: acidic domains for protein-protein interactions

The protein localizes primarily to the nucleus and is involved in various nuclear processes.

Molecular Functions

RNA Processing

Spliceosome Assembly: HNRNPUL1 is a component of the spliceosome
Pre-mRNA Splicing: Regulates alternative splicing patterns
RNA Stability: Binds and stabilizes specific mRNAs

Transcription Regulation

Interacts with transcription factors
Modulates chromatin structure
Regulates gene expression programs

DNA Repair

Involved in DNA damage response pathways
Associates with ataxia-telangiectasia mutated (ATM) kinase
Facilitates double-strand break repair

Telomere Maintenance

Associates with telomeric proteins
Protects chromosome ends

Expression Pattern

Brain Expression

HNRNPUL1 is expressed throughout the central nervous system:

Cerebral [cortex](/brain-regions/cortex)
[Hippocampus](/brain-regions/hippocampus) (CA1-CA3 regions)
Basal ganglia
[Cerebellum](/brain-regions/cerebellum)
Spinal cord

Cell-Type Specificity

[Neurons](/entities/neurons): High nuclear expression
[Astrocytes](/entities/astrocytes): Moderate expression
Oligodendrocytes: Present
[Microglia](/entities/microglia): Low expression

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

HNRNPUL1 is genetically associated with ALS risk:

Rare variants identified in ALS patients
Dysregulated RNA metabolism in motor neurons
Impaired DNA repair in pathogenesis
PMID: 30271395(https://pubmed.ncbi.nlm.nih.gov/30271395/)

Alzheimer's Disease

In AD brains:

Altered expression in prefrontal cortex
Linked to transcriptional dysregulation
May affect [tau](/proteins/tau) pathology
PMID: 31558825(https://pubmed.ncbi.nlm.nih.gov/31558825/)

Ataxia-Telangiectasia (A-T)

HNRNPUL1 interacts with ATM
DNA repair deficits in A-T
Neurodegeneration in affected individuals

Cancer

HNRNPUL1 dysregulation in:

Breast cancer
Colorectal cancer
Hematological malignancies

Signaling Pathways

HNRNPUL1 participates in multiple pathways:

DNA Damage Response: ATM/ATR-mediated pathways

RNA Splicing: U2-type spliceosome

Transcription: RNA polymerase II regulation

Telomere Protection: Shelterin complex interactions

Therapeutic Implications

Potential Targets

Modulating RNA splicing
Enhancing DNA repair
Gene therapy approaches

Research Tools

CRISPR knockouts
siRNA/shRNA knockdowns
FLAG-tagged constructs

Animal Models

Knockout mice show embryonic lethality
Conditional knockouts in neurons reveal:
Impaired DNA repair
Motor dysfunction
Transcriptional changes

Clinical Significance

Diagnostic Relevance

Genetic testing for ALS risk
Biomarker potential in cerebrospinal fluid

Research Applications

Study of RNA metabolism in neurodegeneration
DNA repair mechanisms

Overview

Background

The study of Hnrnpul1 Gene 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.

References

<a href=#references>[1]</a> Leeman K, et al. HNRNPUL1 variants in amyotrophic lateral sclerosis. Nature Neuroscience. 2018;21(9):1234-1248. [DOI:10.1038/s41593-018-0240-3](https://doi.org/10.1038/s41593-018-0240-3)

<a href=#references>[2]</a> Kim J, et al. HNRNPUL1 and the DNA damage response in neurodegeneration. Nucleic Acids Research. 2019;47(10):5678-5690. [DOI:10.1093/nar/gkz312](https://doi.org/10.1093/nar/gkz312)

<a href=#references>[3]</a> Zhang J, et al. HNRNPUL1 in Alzheimer's disease brain. Acta Neuropathologica. 2020;140(2):183-199. [DOI:10.1007/s00401-020-02142-w](https://doi.org/10.1007/s00401-020-02142-w)

<a href=#references>[4]</a> Martinez FJ, et al. RNA-binding proteins in ALS. Neuron. 2019;103(2):189-191. [DOI:10.1016/j.neuron.2019.06.019](https://doi.org/10.1016/j.neuron.2019.06.019)

<a href=#references>[5]</a> Guo L, et al. Nuclear RNA-binding proteins in ALS. Nature Reviews Neurology. 2020;16(11):639-651.

<a href=#references>[6]</a> Ward JM, et al. HNRNPUL1 interactions with ATM. Cell Reports. 2021;35(9):109247.

External Links

[NCBI Gene HNRNPUL1](https://www.ncbi.nlm.nih.gov/gene/11100)
[UniProt Q9BUJ2](https://www.uniprot.org/uniprot/Q9BUJ2)
[HGNC HNRNPUL1](https://www.genenames.org/data/hgnc_data.php?hgnc_id=17844)
[Ensembl HNRNPUL1](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105388)

📖 View canonical wiki page →

HNRNPUL1 Gene

HNRNPUL1 — hnRNP U-Like Protein 1

Overview

Introduction

HNRNPUL1 — hnRNP U-Like Protein 1

Overview

Introduction

Gene Information

Protein Structure

Molecular Functions

RNA Processing

Transcription Regulation

DNA Repair

Telomere Maintenance

Expression Pattern

Brain Expression

Cell-Type Specificity

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

Alzheimer's Disease

Ataxia-Telangiectasia (A-T)

Cancer

Signaling Pathways

Therapeutic Implications

Potential Targets

Research Tools

Animal Models

Clinical Significance

Diagnostic Relevance

Research Applications

See Also

Overview

Background

References

External Links