Description: Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA. RefSeq Summary (NM_020661): This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]. Transcript (Including UTRs) Position: hg19 chr12:8,754,762-8,765,442 Size: 10,681 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr12:8,756,880-8,765,363 Size: 8,484 Coding Exon Count: 5
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";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): AICDA CDC HuGE Published Literature: AICDA Positive Disease Associations: asthma Related Studies:
asthma Cui, T. P. et al. 2003, [Correlation between activation-induced cytidine deaminase gene polymorphism and atopic asthma and plasma IgE in adult], Xi bao yu fen zi mian yi xue za zhi. 2003 Nov;19(6):552-3.
[PubMed 15182647]
The 8408 T/T genotype of AICDA is correlated with atopic asthma and total plasma IgE level in adult.
asthma Cui, T. et al. 2003, Polymorphisms of IL-4, IL-4R alpha, and AICDA genes in adult allergic asthma., Journal of Huazhong University of Science and Technology Medical sciences. 2003 ;23(2):134-7.
[PubMed 12973929]
These data suggested that the IL-4R alpha chain 576R/R and AICDA 8408T/T genotypes confer genetic susceptibility to adult allergic asthma in China.
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
US Server
