Homo sapiens L. (human) [HSA]

FULL NAME: Activation-induced cytidine deaminase


DESCRIPTION:
Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and class-switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by participating to DNA demethylation.

STRUCTURE SIMILARITY:
Belongs to the cytidine and deoxycytidylate deaminase family.


CATALYTIC ACTIVITY:
Cytidine + H(2)O = uridine + NH(3).


RELATED DISEASE(S):
immunodeficiency with hyper-IgM, TYPE 2
immunodeficiency with hyper-IgM, TYPE 4


Amino acids 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    

Encoded by AICDA gene

FULL NAME: activation-induced cytidine deaminase


OTHER NAME(S):
AID
ARP2
CDA2
HIGM2


DESCRIPTION:
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]


Nucleic acid sequence

        10         20         30         40         50         60
atggacagcc tcttgatgaa ccggaggaag tttctttacc aattcaaaaa tgtccgctgg
        70         80         90        100        110        120
gctaagggtc ggcgtgagac ctacctgtgc tacgtagtga agaggcgtga cagtgctaca
       130        140        150        160        170        180
tccttttcac tggactttgg ttatcttcgc aataagaacg gctgccacgt ggaattgctc
       190        200        210        220        230        240
ttcctccgct acatctcgga ctgggaccta gaccctggcc gctgctaccg cgtcacctgg
       250        260        270        280        290        300
ttcacctcct ggagcccctg ctacgactgt gcccgacatg tggccgactt tctgcgaggg
       310        320        330        340        350        360
aaccccaacc tcagtctgag gatcttcacc gcgcgcctct acttctgtga ggaccgcaag
       370        380        390        400        410        420
gctgagcccg aggggctgcg gcggctgcac cgcgccgggg tgcaaatagc catcatgacc
       430        440        450        460        470        480
ttcaaagatt atttttactg ctggaatact tttgtagaaa accacgaaag aactttcaaa
       490        500        510        520        530        540
gcctgggaag ggctgcatga aaattcagtt cgtctctcca gacagcttcg gcgcatcctt
       550        560        570        580        590
ttgcccctgt atgaggttga tgacttacga gacgcatttc gtactttggg actttga

Last modification date: Oct. 2, 2011