ARL14 (ADP Ribosylation Factor Like GTPase 14)
A member of the ARF-like family of small GTPases involved in intracellular trafficking and potential roles in cancer and immune regulation.
Gene Information Card
| Symbol | ARL14 |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.1 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | Q5VTM2 |
| OMIM ID | 615447 |
| HGNC ID | 28037 |
| Aliases | ARF-like 14, ARL14A, ARL14B |
Description
ARL14 (ADP Ribosylation Factor Like GTPase 14) encodes a member of the ARF-like family of small GTPases. These proteins are involved in vesicle trafficking, cytoskeletal organization, and intracellular signaling. ARL14 is expressed in various tissues and has been implicated in immune cell function and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | ARL14 may regulate vesicle trafficking and signaling pathways that promote tumor growth and metastasis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Immune disorders | ARL14 is involved in the regulation of MHC class II trafficking in dendritic cells, affecting antigen presentation. | PubMed studies (PMID: 23300477) show ARL14 controls MHC-II transport. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.7 | Medium |
| Lung | 6.3 | Low |
| Testis | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in transfected cells |
| Jurkat | 9.8 | Moderate expression in T-cell line |
| HeLa | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101A>G (p.Gln34Arg) | Missense | <0.1% | Unknown functional impact |
| c.205C>T (p.Arg69Trp) | Missense | <0.1% | Reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • intracellular protein transport (GO:0006886) | • vesicle-mediated transport (GO:0016192) |
| • Golgi apparatus (GO:0005794) |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• ARF family signaling (Reactome: R-HSA-9007101)
Protein Summary
ARL14 is a small GTPase of the ARF-like family. It cycles between an active GTP-bound and inactive GDP-bound state, regulating membrane trafficking and cytoskeletal dynamics. The protein is localized to the Golgi apparatus and endosomal compartments, and is involved in the transport of MHC class II molecules in dendritic cells, influencing antigen presentation and immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| ARL14EPL Knockout HEK293 Cell Line | EDJ-KQ12429 | Human | 644100 | 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 |
| ARL14EPL Knockout HCT 116 Cell Line | EDJ-KQ41343 | Human | 644100 | Details Get a Quote |
| ARL14EP Knockout HCT 116 Cell Line | EDJ-KQ31701 | Human | 120534 | Details Get a Quote |
| ARL14 Knockout HeLa Cell Line | EDJ-KQ57292 | Human | 80117 | Details Get a Quote |
| ARL14EPL Knockout HeLa Cell Line | EDJ-KQ60564 | Human | 644100 | Details Get a Quote |
| ARL14EPL Knockout A-549 Cell Line | EDJ-KQ69034 | Human | 644100 | Details Get a Quote |
| ARL14 Knockout HCT 116 Cell Line | EDJ-KQ74224 | Human | 80117 | Details Get a Quote |
