APOBEC1
Apolipoprotein B mRNA Editing Enzyme Catalytic Subunit 1
Gene Information Card
| Symbol | APOBEC1 |
|---|---|
| Full Name | Apolipoprotein B mRNA Editing Enzyme Catalytic Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 339 ncbi.nlm.nih.gov/gene/339 |
| Ensembl ID | ENSG00000111701 |
| UniProt ID | P41238 |
| OMIM ID | 600130 |
| HGNC ID | 603 |
| Aliases | APOBEC-1, BEDP, CDAR1, HEPR, hA1 |
Description
APOBEC1 encodes a cytidine deaminase that catalyzes the C-to-U editing of apolipoprotein B (APOB) mRNA, resulting in a premature stop codon and production of a truncated protein (APOB-48) in the small intestine. This editing is essential for lipid metabolism. APOBEC1 is the founding member of the APOBEC family of nucleic acid editing enzymes and has been implicated in RNA editing, DNA repair, and innate immunity. Dysregulation of APOBEC1 expression or activity is associated with various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | APOBEC1 overexpression leads to aberrant RNA editing of multiple transcripts, promoting tumorigenesis | PMID: 25620004 |
| Colorectal cancer | APOBEC1-mediated editing of APOB mRNA and other targets contributes to cancer progression | PMID: 23555276 |
| Hyperlipidemia | Deficiency in APOBEC1 editing results in altered APOB-100/APOB-48 ratio, affecting lipid metabolism | PMID: 8640228 |
| Breast cancer | APOBEC1 expression correlates with poor prognosis and increased mutation burden | PMID: 26987684 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Liver | 0.8 | Low |
| Stomach | 3.2 | Medium |
| Colon | 4.1 | Medium |
| Pancreas | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HCT116 | 8.9 | Colorectal carcinoma cell line |
| HepG2 | 1.2 | Hepatocellular carcinoma cell line |
| MCF7 | 2.5 | Breast cancer cell line |
| HEK293 | 0.6 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.208C>T (p.Arg70Trp) | Missense | <0.01% | Reduced catalytic activity |
| c.364G>A (p.Glu122Lys) | Missense | <0.01% | Altered substrate specificity |
| c.589C>T (p.Arg197Ter) | Nonsense | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the catalytic domain or cause premature truncation (e.g., p.Arg197Ter) impair C-to-U editing activity.
Gain of Function (GOF)
Overexpression or activating mutations (rare) may increase editing activity, potentially contributing to oncogenesis.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; however, mutant forms may interfere with wild-type APOBEC1 function in heterodimers.
View complete mutation data：
Gene Ontology (GO)
| • cytidine deaminase activity | • mRNA editing |
| • RNA binding | • zinc ion binding |
| • nucleus | • cytoplasm |
Pathways
• Apolipoprotein B mRNA editing
• Lipoprotein metabolism
• APOBEC-mediated RNA editing
Protein Summary
APOBEC1 is a 236-amino acid protein containing a zinc-dependent cytidine deaminase domain. It functions as a homodimer or heterodimer with cofactors such as A1CF (APOBEC1 complementation factor) to edit APOB mRNA. The protein is predominantly expressed in the small intestine and is involved in lipid transport. Its deaminase activity is also implicated in restricting retroviral replication and in cancer mutagenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOBEC1 Knockout HEK293 Cell Line | EDJ-KQ4070 | Human | 339 | Details Get a Quote |
| APOBEC1 Knockout HeLa Cell Line | EDJ-KQ52633 | Human | 339 | Details Get a Quote |
| APOBEC1 Knockout A-549 Cell Line | EDJ-KQ61108 | Human | 339 | Details Get a Quote |
| APOBEC1 Knockout HCT 116 Cell Line | EDJ-KQ69594 | Human | 339 | Details Get a Quote |
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