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 Hypercholesterolemia, Familial and Immunodeficiency With Hyper-Igm, Type 2. Among its related pathways are Gene Expression and Formation of the Editosome. 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 AICDA.
UniProtKB/Swiss-Prot 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.