APOBEC3H
Apolipoprotein B mRNA Editing Enzyme Catalytic Subunit 3H
Gene Information Card
| Symbol | APOBEC3H |
|---|---|
| Full Name | Apolipoprotein B mRNA Editing Enzyme Catalytic Subunit 3H |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 164668 ncbi.nlm.nih.gov/gene/164668 |
| Ensembl ID | ENSG00000185201 |
| UniProt ID | Q6NTF9 |
| OMIM ID | 609807 |
| HGNC ID | 24110 |
| Aliases | A3H, ARP-9, ARP9, MGC119287, MGC119288, MGC119289 |
Description
APOBEC3H is a member of the apolipoprotein B mRNA editing enzyme catalytic polypeptide-like (APOBEC) family. It encodes a cytidine deaminase that catalyzes the deamination of cytosine to uracil in single-stranded DNA, playing a role in innate immunity against retroviruses such as HIV-1. The gene exhibits copy number variation and polymorphic haplotypes that influence protein stability and antiviral activity. APOBEC3H is also implicated in cancer mutagenesis through off-target DNA editing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HIV-1 Infection | APOBEC3H restricts HIV-1 replication by hypermutating viral DNA; polymorphic variants affect susceptibility | PMID: 21589896, 22915790 |
| Breast Cancer | APOBEC3H-mediated mutagenesis contributes to somatic mutation signatures (COSMIC signature 2/13) | PMID: 23932212, 26689913 |
| Lung Cancer | APOBEC3H expression correlates with APOBEC mutation patterns in lung adenocarcinoma | PMID: 26689913 |
| Bladder Cancer | APOBEC3H activity linked to APOBEC signature mutations in urothelial carcinoma | PMID: 26689913 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.4 | Low |
| Lung | 0.1 | Low |
| Spleen | 0.2 | Low |
| Lymph node | 0.3 | Low |
| Bone marrow | 0.1 | Low |
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 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| G105R | Missense | Rare | Alters protein stability and antiviral activity |
| K121E | Missense | Rare | Reduces deaminase activity |
| R18L | Missense | Rare | Associated with altered subcellular localization |
| N15S | Missense | Common (polymorphic) | Haplotype-dependent effect on protein half-life |
Mutation functional classification
Loss of Function (LOF)
G105R and K121E reduce or abolish cytidine deaminase activity and HIV-1 restriction.
Gain of Function (GOF)
Not well characterized; some haplotypes (e.g., haplotype II) show increased stability and antiviral activity.
Dominant Negative (DN)
Not reported for APOBEC3H.
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)
• APOBEC-mediated mutagenesis in cancer (KEGG: hsa05200)
Protein Summary
APOBEC3H is a 224-amino acid protein containing a single zinc-dependent cytidine deaminase domain. It localizes to the nucleus and cytoplasm, and its expression is induced by interferon. The protein exists in multiple polymorphic haplotypes with varying stability and antiviral potency. APOBEC3H deaminates cytosine to uracil in single-stranded DNA, restricting retroviruses like HIV-1. In cancer, aberrant APOBEC3H activity contributes to mutational signatures characterized by C-to-T and C-to-G substitutions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOBEC3H Knockout HEK293 Cell Line | EDJ-KQ12133 | Human | 164668 | Details Get a Quote |
| APOBEC3H Knockout HCT 116 Cell Line | EDJ-KQ39572 | Human | 164668 | Details Get a Quote |
| APOBEC3H Knockout HeLa Cell Line | EDJ-KQ58879 | Human | 164668 | Details Get a Quote |
| APOBEC3H Knockout A-549 Cell Line | EDJ-KQ67370 | Human | 164668 | Details Get a Quote |
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