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

Gene ID: 57379, updated on 1-Jun-2020

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
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]
Expression
Biased expression in lymph node (RPKM 7.1) and appendix (RPKM 1.7) See more
Orthologs

Genomic context

See AICDA in Genome Data Viewer
Location:
12p13.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (8602170..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 HADHA pseudogene 2 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytidine deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytidine deaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
cytidine deaminase activity NAS
Non-traceable Author Statement
more info
PubMed 
deoxycytidine deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
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 cytosine deamination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA demethylation IBA
Inferred from Biological aspect of Ancestor
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
 
cytidine to uridine editing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
defense response to virus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
negative regulation of single stranded viral RNA replication via double stranded DNA intermediate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transposition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of nuclear cell cycle DNA replication IMP
Inferred from Mutant Phenotype
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
P-body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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_065712.1
XP_011519075.1

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q9GZX7
    UniProtKB/TrEMBL
    Q7Z599
    Related
    ENSP00000445691.1, ENST00000537228.5
  2. 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
    Q9GZX7
    UniProtKB/TrEMBL
    Q546Y9, Q7Z599
    Related
    ENSP00000229335.6, ENST00000229335.11
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    8602170..8612970 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520773.2XP_011519075.1  single-stranded DNA cytosine deaminase isoform X1

    See identical proteins and their annotated locations for XP_011519075.1

    UniProtKB/TrEMBL
    Q6QJ80
    Related
    ENSP00000439103.1, ENST00000543081.5
    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
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