ARL6IP5
ADP Ribosylation Factor Like GTPase 6 Interacting Protein 5
Gene Information Card
| Symbol | ARL6IP5 |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 6 Interacting Protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.2 |
| NCBI Gene ID | 10550 ncbi.nlm.nih.gov/gene/10550 |
| Ensembl ID | ENSG00000144713 |
| UniProt ID | Q9H0H5 |
| OMIM ID | 605709 |
| HGNC ID | 24088 |
| Aliases | JWA, GTRAP3-18, addicsin, DKFZp564B1162 |
Description
ARL6IP5 (ADP Ribosylation Factor Like GTPase 6 Interacting Protein 5), also known as JWA or GTRAP3-18, encodes a protein that interacts with the small GTPase ARL6 and modulates glutamate transporter EAAC1 (SLC1A1) activity. It is involved in cellular stress responses, amino acid transport regulation, and has been implicated in neuroprotection and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | ARL6IP5 downregulation correlates with increased migration and invasion; may act as a tumor suppressor | PMID: 25642768 |
| Gastric cancer | Reduced ARL6IP5 expression associated with poor prognosis and metastasis | PMID: 22952447 |
| Neurodegenerative disorders | Modulation of EAAC1/glutamate transporter affects oxidative stress and neuronal survival | PMID: 15009638 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.1 | High |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HepG2 | 9.2 | Moderate expression |
| SH-SY5Y | 14.8 | High expression |
| A549 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; reduced expression linked to tumor progression.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutamate transporter regulation (EAAC1 modulation)
• Cellular response to oxidative stress
Protein Summary
The ARL6IP5 protein (UniProt Q9H0H5) is a 188-amino acid membrane-associated protein that localizes to the endoplasmic reticulum and plasma membrane. It interacts with ARL6 and the glutamate transporter EAAC1, regulating glutamate uptake and protecting cells from oxidative stress. The protein is also implicated in retinoic acid signaling and cancer cell migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL6IP5 Knockout HEK293 Cell Line | EDJ-KQ6462 | Human | 10550 | Details Get a Quote |
| ARL6IP5 Knockout A-549 Cell Line | EDJ-KQ31929 | Human | 10550 | Details Get a Quote |
| ARL6IP5 Knockout HCT 116 Cell Line | EDJ-KQ31931 | Human | 10550 | Details Get a Quote |
| ARL6IP5 Knockout HeLa Cell Line | EDJ-KQ31932 | Human | 10550 | Details Get a Quote |
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