GABARAPL1 Gene
GABA Type A Receptor Associated Protein Like 1
Gene Information Card
| Symbol | GABARAPL1 |
|---|---|
| Full Name | GABA type A receptor associated protein like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 23710 ncbi.nlm.nih.gov/gene/23710 |
| Ensembl ID | ENSG00000139112 |
| UniProt ID | Q9H0R8 |
| OMIM ID | 607420 |
| HGNC ID | 13291 |
| Aliases | GEC1, APG8L, ATG8L, GABARAPL2 |
Description
GABARAPL1 (GABA type A receptor associated protein like 1) is a protein-coding gene that belongs to the ATG8 family of ubiquitin-like proteins involved in autophagy. It encodes a protein that functions in autophagosome formation, intracellular trafficking, and receptor clustering. GABARAPL1 is widely expressed and implicated in cancer, neurodegenerative diseases, and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Downregulation of GABARAPL1 may promote tumor growth and metastasis via impaired autophagy | PMID: 21804532 |
| Hepatocellular carcinoma | Reduced expression correlates with poor prognosis and increased proliferation | PMID: 23359680 |
| Alzheimer disease | Potential role in autophagy dysregulation and amyloid-beta clearance | PMID: 25621951 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Heart | 9.5 | Low |
| Kidney | 11.3 | Medium |
| Lung | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.7 | Medium expression |
| MCF7 | 6.2 | Low expression |
| HepG2 | 20.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • protein transport |
| • GABA receptor binding | • ubiquitin-like protein conjugation |
| • autophagosome assembly |
Pathways
• Autophagy - animal
• GABAergic synapse
Protein Summary
GABARAPL1 is a 117-amino acid protein (UniProt Q9H0R8) that belongs to the ATG8 family. It contains a ubiquitin-like domain and is conjugated to phosphatidylethanolamine on autophagosomal membranes. The protein is involved in autophagosome formation, cargo recognition, and fusion with lysosomes. It also interacts with GABA type A receptors, modulating receptor trafficking and clustering at synapses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABARAPL1 Knockout HEK293 Cell Line | EDJ-KQ51128 | Human | 23710 | Details Get a Quote |
| GABARAPL1 Knockout HeLa Cell Line | EDJ-KQ55797 | Human | 23710 | Details Get a Quote |
| GABARAPL1 Knockout A-549 Cell Line | EDJ-KQ64293 | Human | 23710 | Details Get a Quote |
| GABARAPL1 Knockout HCT 116 Cell Line | EDJ-KQ72742 | Human | 23710 | Details Get a Quote |
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