Aliases for APOBEC1 Gene
External Ids for APOBEC1 Gene
Previous GeneCards Identifiers for APOBEC1 Gene
This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
GeneCards Summary for APOBEC1 Gene
APOBEC1 (Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with APOBEC1 include Immunodeficiency With Hyper-Igm, Type 2 and Neurofibromatosis. Among its related pathways are Gene Expression and mRNA Editing- C to U Conversion. Gene Ontology (GO) annotations related to this gene include RNA binding and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines. An important paralog of this gene is APOBEC3D.
UniProtKB/Swiss-Prot Summary for APOBEC1 Gene
Catalytic component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the APOB mRNA. Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation.