ABCE1: ATP Binding Cassette Subfamily E Member 1
A key regulator of mRNA translation and ribosome recycling, implicated in cancer and viral infections.
Gene Information Card
| Symbol | ABCE1 |
|---|---|
| Full Name | ATP binding cassette subfamily E member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q31.21 |
| NCBI Gene ID | 6059 ncbi.nlm.nih.gov/gene/6059 |
| Ensembl ID | ENSG00000164163 |
| UniProt ID | P61221 |
| OMIM ID | 603429 |
| HGNC ID | 69 |
| Aliases | RNS4I, OABP, RLI, ABC38, HP68 |
Description
ABCE1 (ATP Binding Cassette Subfamily E Member 1) encodes a member of the ATP-binding cassette (ABC) transporter family, but unlike most ABC proteins, it does not function as a transmembrane transporter. Instead, ABCE1 is a cytoplasmic protein that acts as an RNase L inhibitor and is essential for ribosome recycling and translation initiation. It binds ATP and iron-sulfur clusters, playing a critical role in mRNA surveillance and antiviral defense. The gene is highly conserved across eukaryotes and is ubiquitously expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ABCE1 overexpression promotes translation of oncogenic mRNAs and inhibits RNase L-mediated antiviral/antitumor pathways. | COSMIC; multiple studies show elevated expression in breast, lung, and colorectal cancers. |
| Viral infections (e.g., HIV-1) | ABCE1 is required for HIV-1 capsid assembly and viral particle production; inhibition of ABCE1 blocks viral replication. | PubMed; experimental knockdown reduces HIV-1 infectivity. |
| Neurodegenerative disorders (potential) | Dysregulation of ABCE1 may affect neuronal translation and stress responses, linked to ALS and Alzheimer's disease models. | Preliminary evidence from gene expression studies; not yet confirmed in large cohorts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 22.3 | High |
| Bone marrow | 20.1 | High |
| Brain (cortex) | 15.4 | Medium |
| Liver | 12.8 | Medium |
| Heart | 10.2 | Medium |
| Skeletal muscle | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 35.2 | Embryonic kidney; high expression |
| HeLa | 30.1 | Cervical carcinoma; high expression |
| K562 | 28.9 | Leukemia; high expression |
| HepG2 | 22.4 | Hepatocellular carcinoma; medium expression |
| A549 | 18.6 | Lung carcinoma; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | 0.02% (gnomAD) | Unknown; predicted damaging by SIFT/PolyPhen |
| c.1567C>T (p.Arg523Trp) | Missense | 0.01% (gnomAD) | Unknown; may affect ATP binding |
| c.1891_1893del (p.Lys631del) | In-frame deletion | Rare | Unknown; located in C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease; knockout in cell lines is lethal.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function by enhancing translation of oncogenes.
Dominant Negative (DN)
Not described for ABCE1.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • iron-sulfur cluster binding | • ribosome binding |
| • translation initiation factor activity | • mRNA binding |
| • 2' | • 5'-oligoadenylate binding |
| • endonuclease inhibitor activity | • cytoplasm |
| • ribosome | • eukaryotic translation initiation factor 3 complex |
| • mRNA surveillance pathway |
Pathways
• Eukaryotic translation initiation
• Ribosome recycling
• mRNA surveillance (nonsense-mediated decay)
• 2-5A/RNase L antiviral pathway
• HIV-1 capsid assembly
Protein Summary
ABCE1 is a 68 kDa ATP-binding cassette protein that contains two nucleotide-binding domains and an N-terminal iron-sulfur cluster. It functions as an essential translation factor, promoting ribosome recycling and translation initiation. It also inhibits RNase L, thereby modulating the interferon antiviral response. ABCE1 is ubiquitously expressed and is upregulated in several cancers, where it supports sustained protein synthesis. Its role in HIV-1 replication makes it a potential antiviral target.
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