A1CF Gene Summary [Human]
Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | A1CF |
| Official Name | APOBEC1 complementation factor [Source:HGNC Symbol;Acc:HGNC:24086] |
| Ensembl ID | ENSG00000148584 |
| Bio databases IDs | |
| Aliases | APOBEC1 complementation factor |
| Synonyms | 1810073H04Rik, 9130016M20Rik, A1cft, ACF, ACF64, ACF65, alphaMHC-Cre-Mer-Cre, alpha-MHC-MerCreMer, Apobec-1, APOBEC1CF, APOBEC1 complementation factor, APOBEC-1 stimulating, ASP, MCM, mer, MerCreMer, Tg(Myh6-cre/Esr1*)1Jmk, α-MHC-MerCreMer |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human A1CF often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ELAV/HuD family splicing factor
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- mRNA binding
- double-stranded RNA binding motif (DSRM) superfamily
- protein binding activity, bridging
- nuclear localization sequence
- protein binding
- heterogeneous nuclear ribonucleoprotein R, Q family
- single-stranded RNA binding
- RNA binding
- Arg-Gly dipeptide repeat domain
- polyadenylate binding protein, human types 1, 2, 3, 4 family
- dsRNA-binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- non-insulin-dependent diabetes mellitus
- colorectal cancer
- essential tremor
- gout
- primary genetic hyperlipidemia
- hepatic steatosis
role in cell
- disassembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- heterochromatin
- Cytoplasm
- perinuclear region
- nucleoplasm
- interchromatin granule clusters
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human A1CF gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- posttranscriptional regulation of gene expression by mRNA localization
- negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
- mRNA processing
- protein stabilization
- cytidine to uridine editing
- embryo implantation
- mRNA modification
Cellular Component
Where in the cell the gene product is active
- nucleus
- mRNA editing complex
- cytoplasm
- endoplasmic reticulum
- apolipoprotein B mRNA editing enzyme complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- double-stranded RNA binding
- single-stranded RNA binding
- mRNA binding