ARL14EP
ADP Ribosylation Factor Like GTPase 14 Effector Protein
Gene Information Card
| Symbol | ARL14EP |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 14 Effector Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000203879 |
| UniProt ID | A6NIR3 |
| OMIM ID | 617543 |
| HGNC ID | 37247 |
| Aliases | ARF14EP, C1orf59, FLJ32130 |
Description
ARL14EP (ADP Ribosylation Factor Like GTPase 14 Effector Protein) is a protein-coding gene located on chromosome 1q32.1. It encodes a protein that interacts with ARL14, a member of the ARF family of small GTPases, and is involved in vesicle trafficking and membrane dynamics. The gene is expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect vesicle trafficking and cell signaling | COSMIC database reports mutations in various cancer types |
| Not specified | No direct disease association in ClinVar or OMIM | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in embryonic kidney cells |
| HeLa | 10.2 | Moderate expression in cervical cancer cells |
| K562 | 7.5 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown functional effect |
| c.100C>T | synonymous | <0.1% | No effect on protein sequence |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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)
| • protein binding | • GTPase activator activity |
| • vesicle-mediated transport |
Pathways
• ARF family signaling
• Vesicle trafficking
Protein Summary
The ARL14EP protein is a 204-amino acid effector of ARL14, involved in regulating vesicle transport and membrane dynamics. It contains a coiled-coil domain and localizes to the Golgi apparatus and endosomes. Its expression is highest in testis and brain, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL14EP Knockout HEK293 Cell Line | EDJ-KQ7669 | Human | 120534 | 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 |
| 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 |
| 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 |
