APOBEC3A_B
gene geneOn this page
Summary
APOBEC3A_B (APOBEC3A and APOBEC3B deletion hybrid, HGNC:44196) is a protein-coding gene on chromosome 22q13 alternate reference locus.
This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3’ UTR of APOBEC3B.
Source: NCBI Gene 100913187 — RefSeq curated summary.
At a glance
- MANE Select transcript:
NM_001193289
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:44196 |
| Approved symbol | APOBEC3A_B |
| Name | APOBEC3A and APOBEC3B deletion hybrid |
| Location | 22q13 alternate reference locus |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000262156 |
| Entrez | 100913187 |
Gene structure
Transcript identifiers
Ensembl transcripts: 0
RefSeq mRNA: 1 — MANE Select: NM_001193289
NM_001193289
Canonical transcript exons
ENST00000570508 — 0 exons
Expression profiles
Top tissues by expression
0 total, by Bgee expression score (0-100, higher = more expressed):
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- the APOBEC3A/B deletion polymorphism was not associated with risk of breast, lung, colon or prostate cancer in this Norwegian cohort (PMID:29140415)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
Canonical reviewed UniProt: None (reviewed: )
All UniProt accessions (2): A0A0K0MJ49, P31941
RefSeq proteins (1): NP_001180218* (*=MANE)
Domains & families (InterPro)
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-72200 | mRNA Editing: C to U Conversion |
| R-HSA-75094 | Formation of the Editosome |
| R-HSA-75072 | mRNA Editing |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 0 (showing top):
GO Biological Process (10): immune system process (GO:0002376), transposable element silencing (GO:0010526), cytidine to uridine editing (GO:0016554), positive regulation of gene expression via chromosomal CpG island demethylation (GO:0044029), clearance of foreign intracellular DNA (GO:0044355), negative regulation of viral genome replication (GO:0045071), innate immune response (GO:0045087), negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869), defense response to virus (GO:0051607), DNA cytosine deamination (GO:0070383)
GO Molecular Function (7): RNA binding (GO:0003723), catalytic activity (GO:0003824), cytidine deaminase activity (GO:0004126), protein binding (GO:0005515), zinc ion binding (GO:0008270), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (4): P-body (GO:0000932), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| mRNA Editing | 1 |
| mRNA Editing: C to U Conversion | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| biological_process | 1 |
| negative regulation of gene expression | 1 |
| retrotransposition | 1 |
| base conversion or substitution editing | 1 |
| transcription initiation-coupled chromatin remodeling | 1 |
| clearance of foreign intracellular nucleic acids | 1 |
| viral genome replication | 1 |
| regulation of viral genome replication | 1 |
| negative regulation of viral process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| single stranded viral RNA replication via double stranded DNA intermediate | 1 |
| negative regulation of viral genome replication | 1 |
| regulation of single stranded viral RNA replication via double stranded DNA intermediate | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| defense response | 1 |
| response to virus | 1 |
| DNA deamination | 1 |
| nucleic acid binding | 1 |
| molecular_function | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines | 1 |
| deaminase activity | 1 |
| binding | 1 |
| transition metal ion binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
0 interactions, top by confidence:
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000213836 (22:38960249 A>G), RS1000706253 (22:38955854 G>A), RS1000924375 (22:38961754 G>A), RS1001254289 (22:38958881 G>A), RS1001421218 (22:38957523 G>A), RS1001618695 (22:38959120 T>C), RS1004342071 (22:38957898 G>A), RS1004451294 (22:38993233 G>A,C), RS1004673603 (22:38959145 G>A,C), RS1005272450 (22:38956831 C>T), RS1005346202 (22:38956587 A>C), RS1006412868 (22:38955827 T>G), RS1006860664 (22:38962346 C>T), RS1007277557 (22:38956506 G>A), RS1007439337 (22:38960932 C>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
2 total (human), top 2 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation | 1 |
| Smoke | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.