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AICDA activation-induced cytidine deaminase [ Homo sapiens (human) ]

Gene ID: 57379, updated on 11-Sep-2014
Official Symbol
AICDAprovided by HGNC
Official Full Name
activation-induced cytidine deaminaseprovided by HGNC
Primary source
HGNC:HGNC:13203
See related
Ensembl:ENSG00000111732; HPRD:05585; MIM:605257; Vega:OTTHUMG00000168676
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AID; ARP2; CDA2; HIGM2; HEL-S-284
Summary
This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]
See AICDA in Epigenomics, MapViewer
Location:
12p13
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (8602166..8612846, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8754762..8765463, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene C-type lectin domain family 4, member D Neighboring gene C-type lectin domain family 4, member E Neighboring gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2 Neighboring gene microfibrillar associated protein 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp140 trimers enhance the expression of activation-induced cytidine deaminase (AID) in human B cells PubMed
Vif vif In E. coli, HIV-1 Vif can block the activity of activation-induced deaminase (AID), a B lymphoid protein necessary for somatic hypermutation; AID inhibition by Vif is mediated by a direct protein-protein interaction via unique amino acid D118 PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytidine deaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
cytidine deaminase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
B cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
DNA demethylation IDA
Inferred from Direct Assay
more info
 
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
cytidine deamination IEA
Inferred from Electronic Annotation
more info
 
isotype switching IEA
Inferred from Electronic Annotation
more info
 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
negative regulation of methylation-dependent chromatin silencing IDA
Inferred from Direct Assay
more info
 
somatic diversification of immunoglobulins IDA
Inferred from Direct Assay
more info
PubMed 
somatic hypermutation of immunoglobulin genes IMP
Inferred from Mutant Phenotype
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
colocalizes_with exosome (RNase complex) IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
single-stranded DNA cytosine deaminase
Names
single-stranded DNA cytosine deaminase
cytidine aminohydrolase
epididymis secretory protein Li 284
integrated into Burkitt's lymphoma cell line Ramos
NP_065712.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011588.1 

    Range
    5001..15681
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_17

mRNA and Protein(s)

  1. NM_020661.2NP_065712.1  single-stranded DNA cytosine deaminase

    See proteins identical to NP_065712.1

    Status: REVIEWED

    Source sequence(s)
    AB040431, AJ577811, BX402063
    Consensus CDS
    CCDS41747.1
    UniProtKB/TrEMBL
    Q546Y9
    UniProtKB/TrEMBL
    Q7Z599
    UniProtKB/Swiss-Prot
    Q9GZX7
    Related
    ENSP00000229335, OTTHUMP00000239182, ENST00000229335, OTTHUMT00000400575
    Conserved Domains (3) summary
    pfam05240
    Location:119173
    Blast Score: 233
    APOBEC_C; APOBEC-like C-terminal domain
    cd01283
    Location:5129
    Blast Score: 146
    cytidine_deaminase; Cytidine deaminase zinc-binding domain. These enzymes are Zn dependent. The zinc ion in the active site plays a central role in the proposed catalytic mechanism, activating a water molecule to form a hydroxide ion that performs a nucleophilic attack on ...
    pfam08210
    Location:11181
    Blast Score: 514
    APOBEC_N; APOBEC-like N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    8602166..8612846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    8537559..8548246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    8723739..8734421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)