ARL1 Gene - ADP Ribosylation Factor Like GTPase 1
Comprehensive gene card for ARL1, including function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ARL1 |
|---|---|
| Full Name | ADP ribosylation factor like GTPase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.1 |
| NCBI Gene ID | 400 ncbi.nlm.nih.gov/gene/400 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | P40616 |
| OMIM ID | 603252 |
| HGNC ID | 652 |
| Aliases | ARFL1 |
Description
ARL1 (ADP ribosylation factor like GTPase 1) is a member of the ARF family of small GTPases. It regulates vesicle trafficking, particularly at the trans-Golgi network, and is involved in the recruitment of golgins and other effectors to maintain Golgi structure and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM as of 2025 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| A549 | 11.9 | Medium expression |
| K562 | 7.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | missense | 0.001% (gnomAD) | Unknown functional effect |
| c.458C>T (p.Thr153Met) | missense | 0.002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
ARL1 is a small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to the trans-Golgi network and recruits effector proteins such as golgin-245 and GCC185, which are essential for Golgi ribbon formation and vesicle tethering.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL13B Knockout HEK293 Cell Line | EDJ-KQ3226 | Human | 200894 | Details Get a Quote |
| ARL1 Knockout HEK293 Cell Line | EDJ-KQ4086 | Human | 400 | Details Get a Quote |
| ARL11 Knockout HEK293 Cell Line | EDJ-KQ7532 | Human | 115761 | Details Get a Quote |
| ARL14EP Knockout HEK293 Cell Line | EDJ-KQ7669 | Human | 120534 | Details Get a Quote |
| ARL14 Knockout HEK293 Cell Line | EDJ-KQ9452 | Human | 80117 | Details Get a Quote |
| ARL15 Knockout HEK293 Cell Line | EDJ-KQ11711 | Human | 54622 | Details Get a Quote |
| ARL10 Knockout HEK293 Cell Line | EDJ-KQ12427 | Human | 285598 | Details Get a Quote |
| ARL13A Knockout HEK293 Cell Line | EDJ-KQ12428 | Human | 392509 | Details Get a Quote |
| ARL14EPL Knockout HEK293 Cell Line | EDJ-KQ12429 | Human | 644100 | Details Get a Quote |
| ARL16 Knockout HEK293 Cell Line | EDJ-KQ12430 | Human | 339231 | Details Get a Quote |
| ARL17B Knockout HEK293 Cell Line | EDJ-KQ12431 | Human | 100506084 | Details Get a Quote |
| ARL14EP Knockout A-549 Cell Line | EDJ-KQ33028 | Human | 120534 | Details Get a Quote |
| ARL14EP Knockout HeLa Cell Line | EDJ-KQ33030 | Human | 120534 | Details Get a Quote |
| ARL14 Knockout A-549 Cell Line | EDJ-KQ36145 | Human | 80117 | Details Get a Quote |
| ARL17B Knockout HeLa Cell Line | EDJ-KQ40063 | Human | 100506084 | Details Get a Quote |
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