ARL6IP6
ADP Ribosylation Factor Like GTPase 6 Interacting Protein 6
Gene Information Card
| Symbol | ARL6IP6 |
|---|---|
| Full Name | ADP ribosylation factor like GTPase 6 interacting protein 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 151188 ncbi.nlm.nih.gov/gene/151188 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | Q8N6N3 |
| OMIM ID | 614152 |
| HGNC ID | 24038 |
| Aliases | AIP-6, ARL6IP6, MGC33887 |
Description
ARL6IP6 (ADP ribosylation factor like GTPase 6 interacting protein 6) is a protein-coding gene located on chromosome 2q33.1. The encoded protein interacts with ARL6 (ADP-ribosylation factor-like 6) and is involved in intracellular trafficking and membrane dynamics. ARL6IP6 is expressed in multiple tissues and has been implicated in ciliary function and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Disruption of ciliary transport due to ARL6IP6 dysfunction | Limited evidence; inferred from ARL6 pathway (OMIM 614152) |
| Breast cancer | Altered expression may contribute to tumor progression | COSMIC mutation data; expression changes in cancer cell lines |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| MCF7 | 6.5 | Low expression |
| A549 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | <0.01% | Premature truncation; loss of function |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg113* leads to truncated protein, likely loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • intracellular protein transport (GO:0006886) | • membrane (GO:0016020) |
Pathways
• Intracellular trafficking (Reactome R-HSA-199991)
• Ciliary transport (inferred from ARL6 interactions)
Protein Summary
ARL6IP6 encodes a 201-amino acid protein that localizes to the cytoplasm and membranes. It interacts with ARL6, a small GTPase involved in ciliary trafficking. The protein is predicted to contain coiled-coil domains and may function as an adaptor in vesicle-mediated transport. Expression is detected in testis, brain, and other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL6IP6 Knockout HEK293 Cell Line | EDJ-KQ52051 | Human | 151188 | Details Get a Quote |
| ARL6IP6 Knockout HeLa Cell Line | EDJ-KQ58681 | Human | 151188 | Details Get a Quote |
| ARL6IP6 Knockout A-549 Cell Line | EDJ-KQ67163 | Human | 151188 | Details Get a Quote |
| ARL6IP6 Knockout HCT 116 Cell Line | EDJ-KQ75566 | Human | 151188 | Details Get a Quote |
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