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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
The off-target effects of AID in carcinogenesis.
Title: The off-target effects of AID in carcinogenesis.
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.
[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].
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.
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.
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.
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.
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.
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	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 3.5.4.38

NP_001397899.1

EC 3.5.4.38

NP_065712.1

EC 3.5.4.38

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

NG_011588.1 RefSeqGene

Range

5001..15681

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_17

mRNA and Protein(s)

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
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
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