AREL1 (Apoptosis Resistant E3 Ubiquitin Protein Ligase 1)
Gene encoding a ubiquitin ligase involved in apoptosis regulation and protein ubiquitination.
Gene Information Card
| Symbol | AREL1 |
|---|---|
| Full Name | Apoptosis Resistant E3 Ubiquitin Protein Ligase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 9870 ncbi.nlm.nih.gov/gene/9870 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9Y6X2 |
| OMIM ID | 617471 |
| HGNC ID | 24678 |
| Aliases | KIAA0317, FLJ10305, MGC138290 |
Description
AREL1 encodes a member of the HECT family of E3 ubiquitin ligases. The protein is involved in ubiquitination and proteasomal degradation of target proteins, playing a role in apoptosis resistance and cellular stress responses. It is expressed in multiple tissues and is implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ubiquitin-mediated degradation of pro-apoptotic factors | Limited; inferred from functional studies and expression data (COSMIC, NCBI) |
| Neurodegenerative disorders | Potential role in protein aggregation via ubiquitination defects | Speculative; based on homology and pathway analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | High expression in embryonic kidney cells |
| HeLa | 14.2 | Moderate expression in cervical cancer cells |
| K562 | 9.8 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Arg412Cys; potential loss of function |
| c.567_568del | Frameshift | <0.01% | Truncation; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce ubiquitin ligase activity, impairing apoptosis regulation.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Apoptosis (KEGG: hsa04210)
Protein Summary
AREL1 is a 1086-amino acid HECT-type E3 ubiquitin ligase. It contains a C-terminal HECT domain responsible for ubiquitin transfer and an N-terminal region involved in substrate recognition. The protein localizes to the cytoplasm and nucleus, and its activity is linked to the ubiquitination of proteins involved in cell survival and death.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AREL1 Knockout HEK293 Cell Line | EDJ-KQ6793 | Human | 9870 | Details Get a Quote |
| AREL1 Knockout HeLa Cell Line | EDJ-KQ29921 | Human | 9870 | Details Get a Quote |
| AREL1 Knockout A-549 Cell Line | EDJ-KQ31273 | Human | 9870 | Details Get a Quote |
| AREL1 Knockout HCT 116 Cell Line | EDJ-KQ31274 | Human | 9870 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
