InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AICDA

Summary

InnateDB Protein

IDBP-17255.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AICDA

Protein Name

activation-induced cytidine deaminase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000229335

InnateDB Gene

IDBG-17253 (AICDA)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:18722174, ECO:0000269PubMed:21385873, ECO:0000269PubMed:21496894, ECO:0000269PubMed:21518874}.

Subcellular Localization

Nucleus. Cytoplasm. Note=Predominantly cytoplasmic but shuttles between the nucleus and the cytoplasm.

Disease Associations

Immunodeficiency with hyper-IgM 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. {ECO:0000269PubMed:11007475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Strongly expressed in lymph nodes and tonsils. {ECO:0000269PubMed:23166356}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	69 [view]
Protein-Protein	66 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	2 [view]
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004126	cytidine deaminase activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0016814	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines

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:0045087	innate immune response (InnateDB)
GO:0045190	isotype switching
GO:0071222	cellular response to lipopolysaccharide
GO:0080111	DNA demethylation
GO:0090310	negative regulation of methylation-dependent chromatin silencing