ARL10: ADP Ribosylation Factor Like GTPase 10
A small GTPase involved in intracellular trafficking and potential roles in cancer and ciliopathies.
Gene Information Card
| Symbol | ARL10 |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 285598 ncbi.nlm.nih.gov/gene/285598 |
| Ensembl ID | ENSG00000185418 |
| UniProt ID | Q8N6L1 |
| OMIM ID | 618152 |
| HGNC ID | 25562 |
| Aliases | ARL10A, ARL10B, ARL10C |
Description
ARL10 (ADP Ribosylation Factor Like GTPase 10) is a member of the ARF-like family of small GTPases. It is involved in intracellular vesicle trafficking, ciliary transport, and may play a role in cell cycle regulation. ARL10 is broadly expressed in human tissues and has been implicated in ciliopathies and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | ARL10 mutations disrupt ciliary transport leading to cerebellar and retinal defects. | ClinVar, OMIM |
| Retinitis pigmentosa | Defective ARL10 impairs photoreceptor cilia maintenance. | ClinVar, OMIM |
| Breast cancer | ARL10 overexpression correlates with poor prognosis; potential role in tumor progression. | COSMIC, NCBI Gene |
| Colorectal cancer | Somatic mutations in ARL10 identified in tumor samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 7.8 | Moderate expression |
| MCF7 | 6.5 | Moderate expression |
| A549 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.001% | Loss of GTP binding; associated with Joubert syndrome |
| c.418G>A (p.Gly140Arg) | Missense | 0.0005% | Impaired ciliary localization |
| c.123delC | Frameshift | 0.0002% | Loss of function; reported in retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that disrupt GTP binding or protein stability lead to loss of ARL10 function, impairing ciliary trafficking.
Gain of Function (GOF)
No gain-of-function mutations currently documented in ARL10.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg113Trp) may act in a dominant-negative manner by sequestering interacting partners.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • cilium assembly |
| • vesicle-mediated transport | • Golgi organization |
Pathways
• Cargo trafficking to the primary cilium
• ARF family signaling
• Intraflagellar transport
Protein Summary
ARL10 is a small GTPase of the ARF-like family, predominantly localized to the Golgi apparatus and ciliary base. It cycles between GDP-bound (inactive) and GTP-bound (active) states, regulating vesicle budding and ciliary protein entry. Mutations in ARL10 disrupt ciliary function, leading to syndromic ciliopathies such as Joubert syndrome and retinitis pigmentosa. Altered expression is also observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL10 Knockout HEK293 Cell Line | EDJ-KQ12427 | Human | 285598 | Details Get a Quote |
| ARL10 Knockout HeLa Cell Line | EDJ-KQ41342 | Human | 285598 | Details Get a Quote |
| ARL10 Knockout A-549 Cell Line | EDJ-KQ67990 | Human | 285598 | Details Get a Quote |
| ARL10 Knockout HCT 116 Cell Line | EDJ-KQ76368 | Human | 285598 | Details Get a Quote |
