APOBEC3A
Apolipoprotein B mRNA Editing Enzyme Catalytic Subunit 3A
Gene Information Card
| Symbol | APOBEC3A |
|---|---|
| Full Name | Apolipoprotein B mRNA Editing Enzyme Catalytic Subunit 3A |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 200315 ncbi.nlm.nih.gov/gene/200315 |
| Ensembl ID | ENSG00000128383 |
| UniProt ID | P31941 |
| OMIM ID | 607109 |
| HGNC ID | 17343 |
| Aliases | A3A, ARP-3, dJ494G10.1, phorbolin-1 |
Description
APOBEC3A is a member of the apolipoprotein B mRNA editing enzyme catalytic polypeptide-like (APOBEC) family. It encodes a cytidine deaminase that converts cytosine to uracil in single-stranded DNA, playing a role in innate immunity by restricting retroviruses and retrotransposons. APOBEC3A is also implicated in somatic hypermutation and chromosomal DNA damage, contributing to cancer mutagenesis when dysregulated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | APOBEC3A-mediated cytidine deamination generates mutational signatures (e.g., COSMIC signature 2/13) in breast cancer genomes. | COSMIC, PMID: 23770647 |
| Lung Cancer | Overexpression of APOBEC3A leads to increased C-to-T and C-to-G mutations in lung adenocarcinoma. | COSMIC, PMID: 27760137 |
| Head and Neck Cancer | APOBEC3A activity contributes to kataegis and focal hypermutation in head and neck squamous cell carcinoma. | COSMIC, PMID: 23932212 |
| Systemic Lupus Erythematosus | APOBEC3A expression is elevated in lupus patients and may contribute to autoantibody production via DNA damage. | PMID: 25231953 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 0.4 | Low |
| Spleen | 0.3 | Low |
| Bone marrow | 0.2 | Low |
| Lung | 0.1 | Not detected |
| Breast | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| HeLa | 0.3 | Low expression |
| K562 | 0.2 | Low expression |
| MCF7 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
| c.200_201del | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in APOBEC3A are predicted to result in loss of deaminase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in APOBEC3A.
Dominant Negative (DN)
No dominant-negative mutations described for APOBEC3A.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • catalytic activity (GO:0003824) |
| • zinc ion binding (GO:0008270) | • cytidine deaminase activity (GO:0009972) |
| • viral process (GO:0044826) | • defense response to virus (GO:0051607) |
Pathways
• Innate Immune System (Reactome: R-HSA-168249)
• Antiviral mechanism by IFN-stimulated genes (Reactome: R-HSA-1169410)
• APOBEC3 mediated resistance to HIV-1 (Reactome: R-HSA-180689)
Protein Summary
APOBEC3A is a 199-amino-acid protein (UniProt P31941) containing a single zinc-dependent cytidine deaminase domain. It localizes to the nucleus and cytoplasm, deaminating cytosine to uracil in single-stranded DNA. This activity restricts replication of retroviruses (e.g., HIV-1) and retrotransposons (e.g., LINE-1). In cancer, APOBEC3A overexpression induces clustered mutations (kataegis) and contributes to tumor evolution.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOBEC3A Knockout HEK293 Cell Line | EDJ-KQ3561 | Human | 200315 | Details Get a Quote |
| APOBEC3A_B Knockout HEK293 Cell Line | EDJ-KQ11872 | Human | 100913187 | Details Get a Quote |
| APOBEC3A_B Knockout HCT 116 Cell Line | EDJ-KQ39064 | Human | 100913187 | Details Get a Quote |
| APOBEC3A_B Knockout A-549 Cell Line | EDJ-KQ40304 | Human | 100913187 | Details Get a Quote |
| APOBEC3A_B Knockout HeLa Cell Line | EDJ-KQ40305 | Human | 100913187 | Details Get a Quote |
| APOBEC3A Knockout HeLa Cell Line | EDJ-KQ59003 | Human | 200315 | Details Get a Quote |
| APOBEC3A Knockout A-549 Cell Line | EDJ-KQ67486 | Human | 200315 | Details Get a Quote |
| APOBEC3A Knockout HCT 116 Cell Line | EDJ-KQ75882 | Human | 200315 | Details Get a Quote |
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