APOBEC3D: A Cytidine Deaminase in Antiviral Immunity and Cancer
Comprehensive genomic and functional overview of APOBEC3D, a member of the AID/APOBEC family involved in innate immunity and mutagenesis.
Gene Information Card
| Symbol | APOBEC3D |
|---|---|
| Full Name | Apolipoprotein B mRNA editing enzyme catalytic subunit 3D |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 140564 ncbi.nlm.nih.gov/gene/140564 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | Q96AK3 |
| OMIM ID | 609900 |
| HGNC ID | 17354 |
| Aliases | A3D, APOBEC3E, ARP-6 |
Description
APOBEC3D (Apolipoprotein B mRNA editing enzyme catalytic subunit 3D) is a member of the AID/APOBEC family of cytidine deaminases. It catalyzes the deamination of cytosine to uracil in single-stranded DNA, playing a key role in innate antiviral immunity by hypermutating viral DNA, particularly against retroviruses such as HIV-1. APOBEC3D also contributes to somatic mutation in cancer, where its dysregulation can lead to genomic instability and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HIV-1 Infection | APOBEC3D restricts HIV-1 replication by deaminating viral cDNA, but is counteracted by the viral Vif protein which induces its degradation. | PMID: 21917944 |
| Breast Cancer | APOBEC3D expression is elevated in breast tumors and contributes to APOBEC-signature mutations (C-to-T transitions) in cancer genomes. | PMID: 23995678 |
| Lung Cancer | APOBEC3D-mediated mutagenesis is implicated in lung adenocarcinoma, with enrichment of APOBEC mutation signatures. | PMID: 26691986 |
| Bladder Cancer | APOBEC3D is overexpressed in bladder cancer and associated with increased mutation burden and poor prognosis. | PMID: 26691986 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 5.2 | Medium |
| Spleen | 4.8 | Medium |
| Bone marrow | 3.9 | Low |
| Lung | 2.1 | Low |
| Breast | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.4 | Embryonic kidney, moderate expression |
| HeLa | 2.8 | Cervical carcinoma, low expression |
| MCF7 | 1.9 | Breast cancer, low expression |
| A549 | 1.2 | Lung carcinoma, very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.232C>T (p.Arg78Trp) | Missense | <0.01% | Unknown functional effect |
| c.556G>A (p.Gly186Arg) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the catalytic domain or zinc-coordinating residues (e.g., H66A, C100A) abolish deaminase activity.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may lead to increased mutagenesis.
Dominant Negative (DN)
Not reported for APOBEC3D.
View complete mutation data：
Gene Ontology (GO)
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
APOBEC3D is a 384-amino acid protein containing a single cytidine deaminase domain with a zinc-coordinating motif (H-X-E-X23-28-P-C-X2-C). It localizes to the nucleus and cytoplasm, and its expression is induced by interferon. The protein forms dimers and interacts with viral and cellular factors to exert its antiviral and mutagenic functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOBEC3D Knockout HEK293 Cell Line | EDJ-KQ9783 | Human | 140564 | Details Get a Quote |
| APOBEC3D Knockout HCT 116 Cell Line | EDJ-KQ36631 | Human | 140564 | Details Get a Quote |
| APOBEC3D Knockout HeLa Cell Line | EDJ-KQ58435 | Human | 140564 | Details Get a Quote |
| APOBEC3D Knockout A-549 Cell Line | EDJ-KQ66923 | Human | 140564 | Details Get a Quote |
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