ARL13A
ADP Ribosylation Factor Like GTPase 13A
Gene Information Card
| Symbol | ARL13A |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 13A |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 84100 ncbi.nlm.nih.gov/gene/84100 |
| Ensembl ID | ENSG00000101974 |
| UniProt ID | Q5H913 |
| OMIM ID | 300406 |
| HGNC ID | 28687 |
| Aliases | JBTS8, ARL13A1 |
Description
ARL13A encodes a member of the ADP-ribosylation factor-like family of small GTPases. The protein is localized to primary cilia and is essential for ciliary function and Hedgehog signaling. Mutations in ARL13A cause Joubert syndrome type 8, a ciliopathy characterized by cerebellar vermis hypoplasia, intellectual disability, and retinal dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 8 | Loss-of-function mutations impair ciliary GTPase activity and disrupt Hedgehog signaling | OMIM #300406; ClinVar |
| Retinal dystrophy | Ciliary dysfunction leads to photoreceptor degeneration | OMIM #300406 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Kidney | 6.5 | Low |
| Lung | 4.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.0 | Ciliated epithelial cell line |
| HeLa | 5.2 | Cervical cancer cell line |
| HEK293 | 3.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.239G>A (p.Arg80Gln) | Missense | Rare | Loss of ciliary localization and GTP binding |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.460C>T (p.Arg154*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations impair GTPase activity and ciliary targeting, leading to Joubert syndrome.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cilium assembly | • intracellular protein transport |
| • Hedgehog signaling pathway |
Pathways
• Hedgehog signaling pathway
• Ciliary transport
Protein Summary
ARL13A is a small GTPase that localizes to the primary cilium. It regulates ciliary membrane composition and Hedgehog signal transduction. The protein contains an N-terminal GTP-binding domain and a C-terminal coiled-coil region. Mutations disrupt ciliary function and cause Joubert syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL13A Knockout HEK293 Cell Line | EDJ-KQ12428 | Human | 392509 | Details Get a Quote |
| ARL13A Knockout HeLa Cell Line | EDJ-KQ60235 | Human | 392509 | Details Get a Quote |
| ARL13A Knockout A-549 Cell Line | EDJ-KQ68697 | Human | 392509 | Details Get a Quote |
| ARL13A Knockout HCT 116 Cell Line | EDJ-KQ77064 | Human | 392509 | Details Get a Quote |
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