[1]	NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. DOI=10.1006/geno.2000.6268; PubMed=10950930 [NCBI, ExPASy, EBI, Israel, Japan] Muto T., Muramatsu M., Taniwaki M., Kinoshita K., Honjo T.; "Isolation, tissue distribution, and chromosomal localization of the human activation-induced cytidine deaminase (hAID) gene."; Genomics 68:85-88(2000).
[2]	NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANTS HIGM2 TRP-24; ARG-80; PRO-106; VAL-139 AND SER-151. DOI=10.1016/S0092-8674(00)00079-9; PubMed=11007475 [NCBI, ExPASy, EBI, Israel, Japan] Revy P., Muto T., Levy Y., Geissmann F., Plebani A., Sanal O., Catalan N., Forveille M., Dufourcq-Lagelouse R., Gennery A., Tezcan I., Ersoy F., Kayserili H., Ugazio A.G., Brousse N., Muramatsu M., Notarangelo L.D., Kinoshita K., Honjo T., Fischer A., Durandy A.; "Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)."; Cell 102:565-575(2000).
[3]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.; "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."; Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[4]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. TISSUE=B-cell; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[5]	VARIANT CYS-25. DOI=10.1067/mai.2001.117456; PubMed=11544457 [NCBI, ExPASy, EBI, Israel, Japan] Noguchi E., Shibasaki M., Inudou M., Kamioka M., Yokouchi Y., Yamakawa-Kobayashi K., Hamaguchi H., Matsui A., Arinami T.; "Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels."; J. Allergy Clin. Immunol. 108:382-386(2001).

Comments

FUNCTION: RNA-editing deaminase involved in somatic hypermutation, gene conversion, and class-switch recombination. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses.
CATALYTIC ACTIVITY: Cytidine + H₂O = uridine + NH₃.
COFACTOR: Zinc (By similarity).
TISSUE SPECIFICITY: Strongly expressed in lymph nodes and tonsils.
DISEASE: Defects in AICDA are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]. HIGM2 is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. HIGM2 causes the absence of Ig class switch recombination (CSR), the lack of Ig somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.
SIMILARITY: Belongs to the cytidine and deoxycytidylate deaminase family.
WEB RESOURCE: Name=AICDAbase; Note=AICDA mutation db; URL="http://bioinf.uta.fi/AICDAbase/";.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=AICDA";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

AB040431; BAB12721.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AB040430; BAB12720.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BT007402; AAP36066.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC006296; AAH06296.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00010186; -.

NP_065712.1; -.

3D structure databases

ModBase

Q9GZX7.

PTM databases

PhosphoSite

Q9GZX7; -.

Enzyme and pathway databases

BRENDA

3.5.4.5; 247.

Pathway_Interaction_DB

il4_2pathway; IL4-mediated signaling events.

Organism-specific databases

GC12M008646; -.

HIX0010409; -.

HGNC:13203; AICDA.

605257; gene. [NCBI / EBI]
605258; phenotype. [NCBI / EBI]

Orphanet

69712; Hyper-IgM syndrome.

PharmGKB

PA24644; -.

Gene expression databases

Q9GZX7; -.

Q9GZX7; -.

HS_AICDA; -.

ENSG00000111732; Homo sapiens.

Ontologies

GO:0005737;	Cellular component: cytoplasm (inferred from direct assay from UniProtKB).
GO:0004126;	Molecular function: cytidine deaminase activity (inferred from direct assay from UniProtKB).
GO:0005515;	Molecular function: protein binding (inferred from physical interaction from UniProtKB).
GO:0008270;	Molecular function: zinc ion binding (inferred from electronic annotation from UniProtKB-KW).
GO:0030183;	Biological process: B cell differentiation (non-traceable author statement from UniProtKB).
GO:0006397;	Biological process: mRNA processing (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.

Family and domain databases

InterPro

IPR016192; APOBEC/CMP_deaminase_Zn-bd.
IPR007904; APOBEC_C.
IPR013158; APOBEC_N.
Graphical view of domain structure.

Pfam

PF05240; APOBEC_C; 1.
PF08210; APOBEC_N; 1.
Pfam graphical view of domain structure.

PROSITE

PS00903; CYT_DCMP_DEAMINASES; 1.

Proteomic databases

PRIDE

Q9GZX7; -.

Genome annotation databases

Ensembl

ENSG00000111732; Homo sapiens. [Contig view]

GeneID

57379; -.

KEGG

hsa:57379; -.

Phylogenomic databases

HOGENOM

Q9GZX7; -.

HOVERGEN

Q9GZX7; -.

OMA

Q9GZX7; CWNTFVE.

Other

63478; -.

AICDA; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Disease mutation; Hydrolase; Metal-binding; mRNA processing; Polymorphism; Zinc.

Features

Feature table viewer

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 198`	`198`	`Activation-induced cytidine deaminase.`	`PRO_0000171687`
`ACT_SITE`	`58 58`		`Proton donor (By similarity).`
`METAL`	`56 56`		`Zinc; catalytic (By similarity).`
`METAL`	`87 87`		`Zinc; catalytic (By similarity).`
`METAL`	`90 90`		`Zinc; catalytic (By similarity).`
`VARIANT`	`24 24`	`1`	`R -> W (in HIGM2).`	`VAR_013774`
`VARIANT`	`25 25`	`1`	`R -> C.`	`VAR_014091`
`VARIANT`	`80 80`	`1`	`W -> R (in HIGM2).`	`VAR_013775`
`VARIANT`	`106 106`	`1`	`L -> P (in HIGM2).`	`VAR_013776`
`VARIANT`	`139 139`	`1`	`M -> V (in HIGM2).`	`VAR_013777`
`VARIANT`	`151 151`	`1`	`F -> S (in HIGM2).`	`VAR_013778`

Sequence information

Length: 198 AA [This is the length of the unprocessed precursor]

Molecular weight: 23954 Da [This is the MW of the unprocessed precursor]

CRC64: 3C27BB143DB184A9 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MDSLLMNRRK FLYQFKNVRW AKGRRETYLC YVVKRRDSAT SFSLDFGYLR NKNGCHVELL 

        70         80         90        100        110        120 
FLRYISDWDL DPGRCYRVTW FTSWSPCYDC ARHVADFLRG NPNLSLRIFT ARLYFCEDRK 

       130        140        150        160        170        180 
AEPEGLRRLH RAGVQIAIMT FKDYFYCWNT FVENHERTFK AWEGLHENSV RLSRQLRRIL 

       190 
LPLYEVDDLR DAFRTLGL

Q9GZX7 in FASTA format

View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools