ID:AICDA_HUMAN DESCRIPTION: RecName: Full=Activation-induced cytidine deaminase; EC=3.5.4.5; AltName: Full=Cytidine aminohydrolase; FUNCTION: Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and class- switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. CATALYTIC ACTIVITY: Cytidine + H(2)O = uridine + NH(3). COFACTOR: Zinc (By similarity). SUBUNIT: Interacts with CTNNBL1; the interaction is important for the immunoglobulin switch activity of AICDA. Interacts (via its NLS) with KPNA1. INTERACTION: P24522:GADD45A; NbExp=5; IntAct=EBI-3834328, EBI-448167; Q13569:TDG; NbExp=5; IntAct=EBI-3834328, EBI-348333; SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly cytoplasmic but shuttles between the nucleus and the cytoplasm. TISSUE SPECIFICITY: Strongly expressed in lymph nodes and tonsils. PTM: Phosphorylated. DISEASE: Defects in AICDA are the cause of immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]. A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. SIMILARITY: Belongs to the cytidine and deoxycytidylate deaminase family. WEB RESOURCE: Name=AICDAbase; Note=AICDA mutation db; URL="http://bioinf.uta.fi/AICDAbase/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AICDA";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9GZX7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003824 catalytic activity GO:0004126 cytidine deaminase activity GO:0005515 protein binding GO:0008270 zinc ion binding GO:0016787 hydrolase activity GO:0016814 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines GO:0031625 ubiquitin protein ligase binding GO:0042802 identical protein binding GO:0046872 metal ion binding
Biological Process: GO:0006397 mRNA processing GO:0009972 cytidine deamination GO:0016445 somatic diversification of immunoglobulins GO:0016446 somatic hypermutation of immunoglobulin genes GO:0030183 B cell differentiation GO:0042742 defense response to bacterium GO:0045190 isotype switching GO:0071222 cellular response to lipopolysaccharide GO:0080111 DNA demethylation GO:0090310 negative regulation of methylation-dependent chromatin silencing