GABARAPL1 — GABA Type A Receptor Associated Protein Like 1

GABARAPL1 — GABA Type A Receptor Associated Protein Like 1

Introduction

GABARAPL1 (GABA Type A Receptor Associated Protein Like 1) is a gene located on chromosome 12p13.2 that encodes a member of the ATG8 family of autophagy proteins. Originally identified as GEC1 (Golgi-Endoplasmic Reticulum protein 1), GABARAPL1 is highly expressed in the brain and plays essential roles in autophagy, intracellular trafficking, and cellular stress responses[@legrand2021].

GABARAPL1 — GABA Type A Receptor Associated Protein Like 1

Introduction

GABARAPL1 (GABA Type A Receptor Associated Protein Like 1) is a gene located on chromosome 12p13.2 that encodes a member of the ATG8 family of autophagy proteins. Originally identified as GEC1 (Golgi-Endoplasmic Reticulum protein 1), GABARAPL1 is highly expressed in the brain and plays essential roles in autophagy, intracellular trafficking, and cellular stress responses[@legrand2021].

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">GABARAPL1 Gene</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>GABARAPL1</td></tr>
<tr><td><strong>Full Name</strong></td><td>GABA Type A Receptor Associated Protein Like 1</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>12p13.2</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td><a href="https://www.ncbi.nlm.nih.gov/gene/23710" target="_blank">23710</a></td></tr>
<tr><td><strong>Ensembl ID</strong></td><td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139218" target="_blank">ENSG00000139218</a></td></tr>
<tr><td><strong>OMIM</strong></td><td><a href="https://omim.org/entry/607420" target="_blank">607420</a></td></tr>
<tr><td><strong>UniProt ID</strong></td><td><a href="https://www.uniprot.org/uniprot/Q9Y4L5" target="_blank">Q9Y4L5</a></td></tr>
<tr><td><strong>Protein Size</strong></td><td>117 amino acids</td></tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/autism" style="color:#ef9a9a">Autism</a>, <a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/ischemic-stroke-reperfusion-injury" style="color:#ef9a9a">Ischemic Stroke Reperfusion Injury</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">120 edges</a></td>
</tr>
</table>
</div>

Protein Structure and Function

ATG8 Family

GABARAPL1 belongs to the ATG8 family of proteins, which includes:

• GABARAPL1 (GATE-16, GEC1)
• GABARAPL2 (GABARAP, GATE-16)
• GABARAPL3 (ATG8L)

Molecular Functions

Post-Translational Modifications

• Phosphorylation: GABARAPL1 can be phosphorylated, modulating its interaction with autophagy receptors
• Lipidation: Like other ATG8 proteins, GABARAPL1 undergoes lipidation with phosphatidylethanolamine (PE), enabling membrane association

Expression Patterns

GABARAPL1 exhibits tissue-specific expression:

| Tissue | Expression Level |
|--------|-----------------|
| Brain (cortex, hippocampus, cerebellum) | High |
| Heart | Moderate |
| Kidney | Moderate |
| Liver | Low-Moderate |
| Testis | Moderate |

In the brain, GABARAPL1 is expressed in:

• Neurons (both excitatory and inhibitory)
• [Astrocytes](/cell-type- [Oligodendrocytes](/cell-types/oligodendrocytes)oglia
• [Oligodendrocytes](/cell-types/oligodendrocytes)

Role in Neurodegeneration

Alzheimer's Disease

In [Alzheimer's disease](/diseases/alzheimers-disease), GABARAPL1 plays a protective role:

Parkinson's Disease

In [Parkinson's disease](/diseases/parkinsons-disease), GABARAPL1 contributes to:

Other Neurodegenerative Conditions

Huntington's Disease

Amyotrophic Lateral Sclerosis (ALS)

Frontotemporal Dementia

Mechanistic Pathway

Therapeutic Implications

Biomarker Potential

• GABARAPL1 expression levels in cerebrospinal fluid (CSF) may serve as a biomarker for autophagy activity
• Could indicate disease stage or progression in neurodegenerative conditions

Drug Development Targets

Research Directions

• Gene therapy approaches to increase GABARAPL1 expression in neurons
• AAV vectors targeting autophagy genes to specific brain regions
• Combination therapies targeting multiple autophagy pathways

Interactions

| Interactor | Type | Function |
|------------|------|----------|
| GABARAPL2 | Protein | Functional homolog, forms heterodimers |
| ATG3 | Enzyme | E2-like conjugating enzyme for lipidation |
| ATG7 | Enzyme | E1-like activating enzyme |
| p62/SQSTM1 | Receptor | Selective autophagy receptor |
| GABA-A Receptor | Receptor | Receptor trafficking |

See Also

• [ATG8 Family](/entities/atg8-family) — ATG8, LC3, GABARAP proteins
• [Autophagy](/entities/autophagy) — Cellular degradation pathway
• [Mitophagy](/mechanisms/mitophagy) — Mitochondrial autophagy
• [GABARAPL2 (GABARAP)](/genes/gabarap) — Related family member
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)

External Links

• [NCBI Gene: GABARAPL1](https://www.ncbi.nlm.nih.gov/gene/23710)
• [UniProt: GABARAPL1](https://www.uniprot.org/uniprot/Q9Y4L5)
• [Ensembl: GABARAPL1](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139218)
• [Allen Human Brain Atlas: GABARAPL1](https://human.brain-map.org/microarray/search/show?search_term=GABARAPL1)

References

Pathway Diagram

The following diagram shows the key molecular relationships involving GABARAPL1 — GABA Type A Receptor Associated Protein Like 1 discovered through SciDEX knowledge graph analysis: