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

Gene ID: 57379, updated on 2-Nov-2024

Summary

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Official Symbol
AICDAprovided by HGNC
Official Full Name
activation induced cytidine deaminaseprovided by HGNC
Primary source
HGNC:HGNC:13203
See related
Ensembl:ENSG00000111732 MIM:605257; AllianceGenome:HGNC:13203
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. 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]
Expression
Biased expression in lymph node (RPKM 7.1) and appendix (RPKM 1.7) See more
Orthologs
mouse all
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Genomic context

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See AICDA in Genome Data Viewer
Location:
12p13.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8602170..8612859, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8585624..8596319, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8754766..8765455, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902872 Neighboring gene uncharacterized LOC105369645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:8717245-8717876 Neighboring gene small Cajal body-specific RNA 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8779867-8780858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5936 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8788329-8789138 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:8790755-8791562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:8791770-8792686 Neighboring gene HADHA pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr12:8797315-8797837 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:8800473-8801672 Neighboring gene microfibril associated protein 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Activation-induced cytidine deaminase splicing patterns in chronic lymphocytic leukemia. Marantidou F, et al. Blood Cells Mol Dis, 2010 Apr 15. PMID 20117026
  2. Expression of activation-induced cytidine deaminase in ulcerative colitis-associated carcinogenesis. Gushima M, et al. Histopathology, 2011 Sep. PMID 22034886
  3. Activation-induced cytidine deaminase (AID)-associated multigene signature to assess impact of AID in etiology of diseases with inflammatory component. Mechtcheriakova D, et al. PLoS One, 2011. PMID 21984922, Free PMC Article
  4. Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans. Meyers G, et al. Proc Natl Acad Sci U S A, 2011 Jul 12. PMID 21700883, Free PMC Article
  5. AID expression is correlated with Bcr-Abl expression in CML-LBC and can be down-regulated by As2O3 and/or imatinib. Liu Z, et al. Leuk Res, 2011 Oct. PMID 21570118

See all (275) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Activation-induced cytidine deaminase an antibody diversification enzyme interacts with chromatin modifier UBN1 in B-cells.
    Title: Activation-induced cytidine deaminase an antibody diversification enzyme interacts with chromatin modifier UBN1 in B-cells.
  2. The off-target effects of AID in carcinogenesis.
    Title: The off-target effects of AID in carcinogenesis.
  3. Activation-induced cytidine deaminase displays an alternative co-factor for modulating PIM1 expression in diffuse large B cell lymphoma cell lines.
    Title: Activation-induced cytidine deaminase displays an alternative co-factor for modulating PIM1 expression in diffuse large B cell lymphoma cell lines.
  4. [Activation-induced cytidine deaminase (AID) involved in the regulation of B cell immune senescence].
    Title: [Activation-induced cytidine deaminase (AID) involved in the regulation of B cell immune senescence].
  5. Epstein-Barr virus and malaria upregulate AID and APOBEC3 enzymes, but only AID seems to play a major mutagenic role in Burkitt lymphoma.
    Title: Epstein-Barr virus and malaria upregulate AID and APOBEC3 enzymes, but only AID seems to play a major mutagenic role in Burkitt lymphoma.
  6. Human activation-induced deaminase lacks strong replicative strand bias or preference for cytosines in hairpin loops.
    Title: Human activation-induced deaminase lacks strong replicative strand bias or preference for cytosines in hairpin loops.
  7. AID is a poor prognostic marker of high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.
    Title: AID is a poor prognostic marker of high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.
  8. USP10 regulates B cell response to SARS-CoV-2 or HIV-1 nanoparticle vaccines through deubiquitinating AID.
    Title: USP10 regulates B cell response to SARS-CoV-2 or HIV-1 nanoparticle vaccines through deubiquitinating AID.
  9. Optimized high-fidelity 3DPCR to assess potential mitochondrial targeting by activation-induced cytidine deaminase.
    Title: Optimized high-fidelity 3DPCR to assess potential mitochondrial targeting by activation-induced cytidine deaminase.
  10. Support of BCP-ALL-cells by autologous bone marrow Th-cells involves induction of AID expression but not widespread AID off-target mutagenesis.
    Title: Support of BCP-ALL-cells by autologous bone marrow Th-cells involves induction of AID expression but not widespread AID off-target mutagenesis.
Submit: New GeneRIF Correction See all GeneRIFs (235)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hyper-IgM syndrome type 2
MedGen: C1720956 OMIM: 605258 GeneReviews: Not available
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Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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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
Vpr vpr HIV-1 Vpr co-localizes with AID in germinal center B cells from HIV-1 patients PubMed
vpr HIV-1 Vpr inhibits the binding of 14-3-3 gamma and AID to Smu and Sgamma1 DNA regions PubMed
vpr BiFC assay demonstrate that HIV-1 Vpr directly interacts with AID in HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cytidine deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cytidine deaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cytidine deaminase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in B cell differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in DNA cytosine deamination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
  
involved_in cytidine deamination IEA
Inferred from Electronic Annotation
more info
  
involved_in cytidine to uridine editing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to bacterium IEA
Inferred from Electronic Annotation
more info
  
involved_in defense response to virus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in isotype switching IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of gene expression via chromosomal CpG island demethylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of nuclear cell cycle DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in somatic diversification of immunoglobulins IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in somatic hypermutation of immunoglobulin genes IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in P-body IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
single-stranded DNA cytosine deaminase
Names
cytidine aminohydrolase
epididymis secretory protein Li 284
integrated into Burkitt's lymphoma cell line Ramos
NP_001317272.1
NP_001397899.1
NP_065712.1

NCBI Reference Sequences (RefSeq)

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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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001330343.2 → NP_001317272.1  single-stranded DNA cytosine deaminase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter, but has the same N- and C-termini, as isoform 1.
    Source sequence(s)
    AB040431, AC092184, AJ577811, BP225441
    Consensus CDS
    CCDS81662.1
    UniProtKB/TrEMBL
    A0A8Q3WL45
    Related
    ENSP00000445691.1, ENST00000537228.6
    Conserved Domains (1) summary
    pfam18772
    Location:6 → 170
    APOBEC2

  2. NM_001410970.1 → NP_001397899.1  single-stranded DNA cytosine deaminase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092184
    Consensus CDS
    CCDS91650.1
    UniProtKB/TrEMBL
    H0YFL3, Q6QJ80
    Related
    ENSP00000439103.2, ENST00000543081.6

  3. NM_020661.4 → NP_065712.1  single-stranded DNA cytosine deaminase isoform 1

    See identical proteins and their annotated locations for NP_065712.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB040431, AC092184, AJ577811, BP225441
    Consensus CDS
    CCDS41747.1
    UniProtKB/Swiss-Prot
    Q6QJ81, Q8NFC1, Q9GZX7
    UniProtKB/TrEMBL
    Q546Y9, Q8NFB5, Q8NFB6, Q8NFB7, Q8NFB8, Q8NFB9, Q8NFC0, Q8NFC4, Q8NFC5
    Related
    ENSP00000229335.6, ENST00000229335.11
    Conserved Domains (1) summary
    pfam18772
    Location:6 → 180
    APOBEC2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    8602170..8612859 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    8585624..8596319 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZX7.1 GenPept UniProtKB/Swiss-Prot:Q9GZX7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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