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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AICDA in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8602170..8612859, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8585624..8596319, complement)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 DNA demethylation 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

    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)

    NEW Try the new Transcript table

    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_001330343.2NP_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:6170
      APOBEC2
    2. NM_001410970.1NP_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_020661.4NP_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:6180
      APOBEC2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)