Reviewed, UniProtKB/Swiss-Prot Q9GZX7 (AICDA_HUMAN)

Names and origin

Protein names

Recommended name:
    Activation-induced cytidine deaminase
    EC=3.5.4.5
Alternative name(s):
    Cytidine aminohydrolase

Gene names

Name:	AICDA
Synonyms:	AID

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	198 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (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.
Involvement in 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. Ref.2
Sequence similarities	Belongs to the cytidine and deoxycytidylate deaminase family.

Ontologies

Keywords
Biological process	mRNA processing
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Ligand	Metal-binding Zinc
Molecular function	Hydrolase
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	B cell differentiation Ref.2 Non-traceable author statement. Source: UniProtKB mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay. Source: UniProtKB
Molecular function	cytidine deaminase activity Ref.1 Inferred from direct assay. Source: UniProtKB protein binding Inferred from physical interaction. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 198	198	Activation-induced cytidine deaminase		PRO_0000171687
Sites
	Active site	58	1	Proton donor By similarity
	Metal binding	56	1	Zinc; catalytic By similarity
	Metal binding	87	1	Zinc; catalytic By similarity
	Metal binding	90	1	Zinc; catalytic By similarity
Natural variations
	Natural variant	24	1	R → W in HIGM2. Ref.2		VAR_013774
	Natural variant	25	1	R → C		VAR_014091
	Natural variant	80	1	W → R in HIGM2. Ref.2		VAR_013775
	Natural variant	106	1	L → P in HIGM2. Ref.2		VAR_013776
	Natural variant	139	1	M → V in HIGM2. Ref.2		VAR_013777
	Natural variant	151	1	F → S in HIGM2. Ref.2		VAR_013778

Sequences

	Sequence		Length	Mass (Da)
	Q9GZX7-1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 3C27BB143DB184A9	FASTA	198	23,954
	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

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation, tissue distribution, and chromosomal localization of the human activation-induced cytidine deaminase (hAID) gene." Muto T., Muramatsu M., Taniwaki M., Kinoshita K., Honjo T. Genomics 68:85-88(2000) [PubMed: 10950930] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]	"Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)." 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. Cell 102:565-575(2000) [PubMed: 11007475] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS HIGM2 TRP-24; ARG-80; PRO-106; VAL-139 AND SER-151.
[3]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." 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. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: B-cell.
[5]	"Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels." Noguchi E., Shibasaki M., Inudou M., Kamioka M., Yokouchi Y., Yamakawa-Kobayashi K., Hamaguchi H., Matsui A., Arinami T. J. Allergy Clin. Immunol. 108:382-386(2001) [PubMed: 11544457] [Abstract] Cited for: VARIANT CYS-25.
+	Additional computationally mapped references.

Web resources

AICDAbase

AICDA mutation db

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB040431 mRNA. Translation: BAB12721.1. AB040430 Genomic DNA. Translation: BAB12720.1. BT007402 mRNA. Translation: AAP36066.1. BC006296 mRNA. Translation: AAH06296.1.
IPI	IPI00010186.
RefSeq	NP_065712.1.
UniGene	Hs.149342
3D structure databases
SMR	Q9GZX7. Positions 9-183.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9GZX7.
PTM databases
PhosphoSite	Q9GZX7.
Proteomic databases
PRIDE	Q9GZX7.
Genome annotation databases
Ensembl	ENST00000229335; ENSP00000229335; ENSG00000111732; Homo sapiens. [Genome view]
GeneID	57379.
KEGG	hsa:57379.
UCSC	uc001qur.1. human.
Organism-specific databases
CTD	57379.
GeneCards	GC12M008646.
H-InvDB	HIX0010409.
HGNC	HGNC:13203. AICDA.
MIM	605257. gene. 605258. phenotype.
Orphanet	69712. Hyper-IgM syndrome.
PharmGKB	PA24644.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG716052.
HOVERGEN	Q9GZX7.
InParanoid	Q9GZX7.
OMA	CWNTFVE.
OrthoDB	EOG934ZRM.
Enzyme and pathway databases
BRENDA	3.5.4.5. 247.
Pathway_Interaction_DB	il4_2pathway. IL4-mediated signaling events.
Gene expression databases
ArrayExpress	Q9GZX7.
Bgee	Q9GZX7.
CleanEx	HS_AICDA.
Genevestigator	Q9GZX7.
GermOnline	ENSG00000111732. Homo sapiens.
Family and domain databases
InterPro	IPR016192. APOBEC/CMP_deaminase_Zn-bd. IPR007904. APOBEC_C. IPR013158. APOBEC_N. IPR016193. Cytidine_deaminase-like. [Graphical view]
Pfam	PF05240. APOBEC_C. 1 hit. PF08210. APOBEC_N. 1 hit. [Graphical view]
PROSITE	PS00903. CYT_DCMP_DEAMINASES. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	63478.
SOURCE	Search...

Entry information

Entry name

AICDA_HUMAN

Accession

Primary (citable) accession number: Q9GZX7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 10, 2002
Last sequence update:	March 1, 2001
Last modified:	January 19, 2010
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.