GABARAP
GABA Type A Receptor-Associated Protein
Gene Information Card
| Symbol | GABARAP |
|---|---|
| Full Name | GABA type A receptor-associated protein |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 11337 ncbi.nlm.nih.gov/gene/11337 |
| Ensembl ID | ENSG00000170296 |
| UniProt ID | O95166 |
| OMIM ID | 605125 |
| HGNC ID | 4081 |
| Aliases | GABARAP-a, ATG8A, MAP1LC3A |
Description
GABARAP (GABA type A receptor-associated protein) encodes a member of the ATG8 family of ubiquitin-like proteins involved in autophagy and intracellular trafficking. The protein interacts with GABA-A receptors and modulates receptor clustering and function. GABARAP is also implicated in autophagosome formation and selective autophagy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered GABARAP expression may affect autophagy-mediated tumor suppression | PMID: 25620004 |
| Neurodegenerative disorders (e.g., Alzheimer disease) | Dysregulation of GABARAP-mediated autophagy contributes to protein aggregation | PMID: 29414942 |
| Epilepsy | GABARAP interaction with GABA-A receptors influences inhibitory neurotransmission | PMID: 17959782 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Liver | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Skeletal muscle | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 9.8 | Medium expression |
| SH-SY5Y | 11.4 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function |
| c.205C>T (p.Arg69Trp) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants at conserved residues may impair autophagy.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • GABA receptor binding |
| • microtubule binding | • protein homodimerization activity |
| • ubiquitin-like protein conjugation |
Pathways
• Autophagy - animal
• GABAergic synapse
• Selective autophagy
Protein Summary
GABARAP is a 117-amino acid protein (UniProt O95166) that localizes to autophagosomal membranes and interacts with GABA-A receptor subunits. It functions in autophagosome formation, cargo recognition, and receptor trafficking. The protein contains an N-terminal ubiquitin-like domain and a C-terminal glycine residue required for lipidation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABARAP Knockout HEK293 Cell Line | EDJ-KQ1542 | Human | 11337 | Details Get a Quote |
| GABARAP Knockout A-549 Cell Line | EDJ-KQ21209 | Human | 11337 | Details Get a Quote |
| GABARAP Knockout HCT 116 Cell Line | EDJ-KQ21210 | Human | 11337 | Details Get a Quote |
| GABARAP Knockout HeLa Cell Line | EDJ-KQ21211 | Human | 11337 | Details Get a Quote |
| GABARAPL2 Knockout HEK293 Cell Line | EDJ-KQ51066 | Human | 11345 | Details Get a Quote |
| GABARAPL1 Knockout HEK293 Cell Line | EDJ-KQ51128 | Human | 23710 | Details Get a Quote |
| GABARAPL2 Knockout HeLa Cell Line | EDJ-KQ55636 | Human | 11345 | Details Get a Quote |
| GABARAPL1 Knockout HeLa Cell Line | EDJ-KQ55797 | Human | 23710 | Details Get a Quote |
| GABARAPL2 Knockout A-549 Cell Line | EDJ-KQ64134 | Human | 11345 | Details Get a Quote |
| GABARAPL1 Knockout A-549 Cell Line | EDJ-KQ64293 | Human | 23710 | Details Get a Quote |
| GABARAPL2 Knockout HCT 116 Cell Line | EDJ-KQ72579 | Human | 11345 | Details Get a Quote |
| GABARAPL1 Knockout HCT 116 Cell Line | EDJ-KQ72742 | Human | 23710 | Details Get a Quote |
Displaying Records 1 To 12 Of 12 Records
