ARL17B
ADP Ribosylation Factor Like GTPase 17B
Gene Information Card
| Symbol | ARL17B |
|---|---|
| Full Name | ADP ribosylation factor like GTPase 17B |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000267280 |
| UniProt ID | Q5JVF3 |
| OMIM ID | 618106 |
| HGNC ID | 37255 |
| Aliases | ARL17, ARL17A, ARL17B |
Description
ARL17B (ADP ribosylation factor like GTPase 17B) is a protein-coding gene located on chromosome 17q21.31. It belongs to the ARF family of small GTPases, which are involved in vesicular trafficking and signal transduction. The gene is part of a duplicated region on chromosome 17 and is expressed in various tissues, particularly in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain (cerebellum) | 5.1 | Low |
| Brain (cortex) | 4.3 | Low |
| Thyroid | 3.0 | Low |
| Prostate | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.0 | Moderate expression |
| SH-SY5Y | 4.5 | Low expression |
| HeLa | 3.2 | Low expression |
| K562 | 1.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No clinically significant mutations reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • vesicle-mediated transport |
Pathways
• Vesicular transport (ARF family)
Protein Summary
ARL17B encodes a small GTPase of the ARF-like family. The protein is predicted to localize to intracellular membranes and participate in vesicle trafficking. Its exact biological function remains under investigation, but it shares homology with other ARF family members involved in membrane dynamics and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL17B Knockout HEK293 Cell Line | EDJ-KQ12431 | Human | 100506084 | Details Get a Quote |
| ARL17B Knockout HeLa Cell Line | EDJ-KQ40063 | Human | 100506084 | Details Get a Quote |
| ARL17B Knockout A-549 Cell Line | EDJ-KQ41351 | Human | 100506084 | Details Get a Quote |
| ARL17B Knockout HCT 116 Cell Line | EDJ-KQ41352 | Human | 100506084 | Details Get a Quote |
