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Reviewed, UniProtKB/Swiss-Prot Q9GZX7 (AICDA_HUMAN)

Last modified January 19, 2010. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Activation-induced cytidine deaminase
    EC=3.5.4.5
Alternative name(s):
    Cytidine aminohydrolase
Gene names
Name: AICDA
Synonyms: AID
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length198 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processmRNA processing
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   LigandMetal-binding
Zinc
   Molecular functionHydrolase
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processB cell differentiation Ref.2

Non-traceable author statement. Source: UniProtKB

mRNA processing

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentcytoplasm

Inferred from direct assay. Source: UniProtKB

   Molecular functioncytidine 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 198198Activation-induced cytidine deaminase
PRO_0000171687

Sites

Active site581Proton donor By similarity
Metal binding561Zinc; catalytic By similarity
Metal binding871Zinc; catalytic By similarity
Metal binding901Zinc; catalytic By similarity

Natural variations

Natural variant241R → W in HIGM2. Ref.2
VAR_013774
Natural variant251R → C
VAR_014091
Natural variant801W → R in HIGM2. Ref.2
VAR_013775
Natural variant1061L → P in HIGM2. Ref.2
VAR_013776
Natural variant1391M → V in HIGM2. Ref.2
VAR_013777
Natural variant1511F → S in HIGM2. Ref.2
VAR_013778

Sequences

Sequence LengthMass (Da)Tools
Q9GZX7-1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 3C27BB143DB184A9

FASTA19823,954
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.
IPIIPI00010186.
RefSeqNP_065712.1.
UniGeneHs.149342

3D structure databases

SMRQ9GZX7. Positions 9-183.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9GZX7.

PTM databases

PhosphoSiteQ9GZX7.

Proteomic databases

PRIDEQ9GZX7.

Genome annotation databases

EnsemblENST00000229335; ENSP00000229335; ENSG00000111732; Homo sapiens. [Genome view]
GeneID57379.
KEGGhsa:57379.
UCSCuc001qur.1. human.

Organism-specific databases

CTD57379.
GeneCardsGC12M008646.
H-InvDBHIX0010409.
HGNCHGNC:13203. AICDA.
MIM605257. gene.
605258. phenotype.
Orphanet69712. Hyper-IgM syndrome.
PharmGKBPA24644.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHBG716052.
HOVERGENQ9GZX7.
InParanoidQ9GZX7.
OMACWNTFVE.
OrthoDBEOG934ZRM.

Enzyme and pathway databases

BRENDA3.5.4.5. 247.
Pathway_Interaction_DBil4_2pathway. IL4-mediated signaling events.

Gene expression databases

ArrayExpressQ9GZX7.
BgeeQ9GZX7.
CleanExHS_AICDA.
GenevestigatorQ9GZX7.
GermOnlineENSG00000111732. Homo sapiens.

Family and domain databases

InterProIPR016192. APOBEC/CMP_deaminase_Zn-bd.
IPR007904. APOBEC_C.
IPR013158. APOBEC_N.
IPR016193. Cytidine_deaminase-like.
[Graphical view]
PfamPF05240. APOBEC_C. 1 hit.
PF08210. APOBEC_N. 1 hit.
[Graphical view]
PROSITEPS00903. CYT_DCMP_DEAMINASES. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio63478.
SOURCESearch...

Entry information

Entry nameAICDA_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny 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.

Relevant documents

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents