Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 57379, updated on 21-May-2017
    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; 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]
    Orthologs
    Location:
    12p13.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (8602166..8612970, 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 E Neighboring gene uncharacterized LOC105369645 Neighboring gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2 Neighboring gene microfibril associated protein 5

    • 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 Jun 15 11:32:44 2016

    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
    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

    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • Intestinal immune network for IgA production, organism-specific biosystem (from KEGG)
      Intestinal immune network for IgA production, organism-specific biosystemThe intestine is the largest lymphoid tissue in the body. One striking feature of intestinal immunity is its ability to generate great amounts of noninflammatory immunoglobulin A (IgA) antibodies tha...
    • Intestinal immune network for IgA production, conserved biosystem (from KEGG)
      Intestinal immune network for IgA production, conserved biosystemThe intestine is the largest lymphoid tissue in the body. One striking feature of intestinal immunity is its ability to generate great amounts of noninflammatory immunoglobulin A (IgA) antibodies tha...
    • Primary immunodeficiency, organism-specific biosystem (from KEGG)
      Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Primary immunodeficiency, conserved biosystem (from KEGG)
      Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    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
    PubMed 
    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
    PubMed 
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    cytidine deamination IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to bacterium 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
    PubMed 
    somatic diversification of immunoglobulins IDA
    Inferred from Direct Assay
    more info
    PubMed 
    somatic hypermutation of immunoglobulin genes IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with exosome (RNase complex) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    single-stranded DNA cytosine deaminase
    Names
    cytidine aminohydrolase
    epididymis secretory protein Li 284
    integrated into Burkitt's lymphoma cell line Ramos
    NP_065712.1
    XP_011519074.1
    XP_011519075.1

    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 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001330343.1NP_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/Swiss-Prot
      Q9GZX7
      UniProtKB/TrEMBL
      Q7Z599
    2. NM_020661.3NP_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
      Q9GZX7
      UniProtKB/TrEMBL
      Q546Y9, Q7Z599
      Related
      ENSP00000229335.6, OTTHUMP00000239182, ENST00000229335.10, OTTHUMT00000400575
      Conserved Domains (3) summary
      cd01283
      Location:5129
      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 ...
      pfam05240
      Location:124165
      APOBEC_C; APOBEC-like C-terminal domain
      pfam08210
      Location:11178
      APOBEC_N; APOBEC-like N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      8602166..8612970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520772.2XP_011519074.1  single-stranded DNA cytosine deaminase isoform X1

      Related
      ENSP00000445691.1, OTTHUMP00000239185, ENST00000537228.5, OTTHUMT00000400579
      Conserved Domains (3) summary
      cd01283
      Location:5129
      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 ...
      pfam05240
      Location:124155
      APOBEC_C; APOBEC-like C-terminal domain
      pfam08210
      Location:11168
      APOBEC_N; APOBEC-like N-terminal domain
    2. XM_011520773.2XP_011519075.1  single-stranded DNA cytosine deaminase isoform X2

      See identical proteins and their annotated locations for XP_011519075.1

      UniProtKB/TrEMBL
      Q6QJ80
      Related
      ENSP00000439103.1, OTTHUMP00000239183, ENST00000543081.5, OTTHUMT00000400576
      Conserved Domains (3) summary
      cd01283
      Location:5129
      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 ...
      pfam05240
      Location:124142
      APOBEC_C; APOBEC-like C-terminal domain
      pfam08210
      Location:11142
      APOBEC_N; APOBEC-like N-terminal domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

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