A1CF: APOBEC1 Complementation Factor
A key regulator of RNA editing and lipid metabolism
Gene Information Card
| Symbol | A1CF |
|---|---|
| Full Name | APOBEC1 complementation factor |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.23 |
| NCBI Gene ID | 29974 ncbi.nlm.nih.gov/gene/29974 |
| Ensembl ID | ENSG00000148584 |
| UniProt ID | Q9NQ94 |
| OMIM ID | 618199 |
| HGNC ID | 24086 |
| Aliases | ACF, ACF64, ACF65, APOBEC1CF, ASP, MGC163358 |
Description
The A1CF gene encodes APOBEC1 complementation factor, an RNA-binding protein essential for the cytidine-to-uridine (C-to-U) RNA editing of apolipoprotein B (APOB) mRNA. This editing event produces a truncated form of APOB (APOB48) in the small intestine, crucial for chylomicron metabolism. A1CF also participates in the editing of other transcripts and may play roles in cellular differentiation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypercholesterolemia, familial | Altered APOB editing due to A1CF dysfunction affects lipoprotein metabolism | OMIM #144010 |
| Hepatocellular carcinoma | Dysregulation of A1CF expression linked to altered RNA editing and tumor progression | PMID: 23555202 |
| Colorectal cancer | A1CF overexpression associated with aberrant APOBEC1 editing and genomic instability | PMID: 28783722 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Liver | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Testis | 4.7 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| Caco-2 | 14.8 | Colorectal adenocarcinoma cell line |
| HEK293 | 3.5 | Embryonic kidney cells |
| HeLa | 2.1 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential loss of function |
| c.214C>T | Nonsense | Rare | Premature truncation |
| c.487G>A | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations predicted to impair RNA editing activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • cytidine to uridine editing (GO:0016554) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• APOBEC1 mediated RNA editing
• Lipoprotein metabolism
Protein Summary
APOBEC1 complementation factor (ACF) is a 65 kDa RNA-binding protein that forms a complex with APOBEC1 to catalyze C-to-U editing of APOB mRNA. It contains three RNA recognition motifs (RRMs) and is predominantly localized in the nucleus. ACF is essential for the tissue-specific editing that generates APOB48 in the intestine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| A1CF Knockout HEK293 Cell Line | EDJ-KQ9112 | Human | 29974 | Details Get a Quote |
| A1CF Knockout HeLa Cell Line | EDJ-KQ56135 | Human | 29974 | Details Get a Quote |
| A1CF Knockout A-549 Cell Line | EDJ-KQ64622 | Human | 29974 | Details Get a Quote |
| A1CF Knockout HCT 116 Cell Line | EDJ-KQ73074 | Human | 29974 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
