AID
entrez
57379
canonical
uniprot
Q9GZX7
canonical
ensembl
ENSG00000111732
resolver
ensp
ENSP00000229335
resolver
ensp
ENSP00000439103
resolver
ensp
ENSP00000445691
resolver
enst
ENST00000543081
resolver
genesymbol
AICDA
resolver
genesymbol
AID
resolver
genesymbol_syn
AICDA
resolver
genesymbol_syn
AID
resolver
genesymbol_syn
HEL-S-284
resolver
hgnc
HGNC:13203
resolver
uniprot
A0ACM8Q2W8
resolver
uniprot
H0YFL3
resolver
uniprot
Q546Y9
resolver
uniprot
Q6QJ80
resolver
uniprot
Q6QJ81
resolver
uniprot
Q7Z599
resolver
uniprot
Q8NFC1
resolver
uniprot_entry
A0ACM8Q2W8_HUMAN
resolver
uniprot_entry
AICDA_HUMAN
resolver
uniprot_entry
Q546Y9_HUMAN
resolver
uniprot_entry
Q6QJ80_HUMAN
resolver
uniprot_entry
Q7Z599_HUMAN
resolver
uniprot_sec
H0YFL3
resolver
uniprot_sec
Q6QJ81
resolver
uniprot_sec
Q8NFC1
resolver
amino_acid_sequence
MDSLLMNRRKFLYQFKNVRWAKGRRETYLCYVVKRRDSATSFSLDFGYLRNKNGCHVELLFLRYISDWDLDPGRCYRVTWFTSWSPCYDCARHVADFLRGNPNLSLRIFTARLYFCEDRKAEPEGLRRLHRAGVQIAIMTFKDYFYCWNTFVENHERTFKAWEGLHENSVRLSRQLRRILLPLYEVDDLRDAFRTLGL
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. {ECO:0000269|PubMed:11007475, ECO:0000269|PubMed:14962793, ECO:0000269|PubMed:23803409, ECO:0000269|PubMed:26545377, ECO:0000269|PubMed:27716525}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.4.38
uniprot
proteins
function
FUNCTION: Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894). {ECO:0000269|PubMed:18722174, ECO:0000269|PubMed:21385873, ECO:0000269|PubMed:21496894, ECO:0000269|PubMed:21518874, ECO:0000269|PubMed:27716525}.
uniprot
proteins
mass_dalton
23954
uniprot
proteins
mutagenesis
MUTAGEN 10; /note="K->A: Little effect on nuclear import; when associated with A-193. No effect on CTNNBL1 binding."; /evidence="ECO:0000269|PubMed:21385873"; MUTAGEN 18; /note="V->S: Greatly impaired nuclear import; when associated with V-19 and A-193. Reduced interaction with both CTNNBL1 and KPNA1, and abolishes immunoglobulin class switching; when associated with V-19."; /evidence="ECO:0000269|PubMed:21385873"; MUTAGEN 19; /note="R->V: Greatly impaired nuclear import; when associated with S-18 and A-193. Reduced interaction with both CTNNBL1 and KPNA1, and abolishes immunoglobulin class switching; when associated with S-18."; /evidence="ECO:0000269|PubMed:21385873"; MUTAGEN 20; /note="W->K: Impaired nuclear import; when associated with A-193. No effect on CTNNBL1 binding."; /evidence="ECO:0000269|PubMed:21385873"; MUTAGEN 27; /note="T->A: Loss of phosphorylation. No effect on cytidine deaminase activity. Impaired class-switch recombination activity."; /evidence="ECO:0000269|PubMed:16387847, ECO:0000269|PubMed:21659520"; MUTAGEN 27; /note="T->E: Phosphomimetic mutant which shows loss of cytidine deaminase activity and impaired class-switch recombination activity."; /evidence="ECO:0000269|PubMed:16387847, ECO:0000269|PubMed:21659520"; MUTAGEN 38; /note="S->A: Loss of phosphorylation. Impaired class-switch recombination activity. No effect on interaction with CTNNBL1."; /evidence="ECO:0000269|PubMed:16387847, ECO:0000269|PubMed:18722174"; MUTAGEN 38; /note="S->D: No effect on interaction with CTNNBL1."; /evidence="ECO:0000269|PubMed:16387847, ECO:0000269|PubMed:18722174"; MUTAGEN 39..42; /note="ATSF->GGQV: Greatly reduced interaction with CTNNBL1 but no effect on subcellular location, enzyme activity, ability to oligomerize nor on phosphorylation at Ser-38. Diminished antibody diversification."; /evidence="ECO:0000269|PubMed:18722174"; MUTAGEN 50; /note="R->G: Some reduced nuclear import; when associated with A-193."; /evidence="ECO:0000269|PubMed:21385873"; MUTAGEN 112; /note="R->D: Greatly reduced nuclear import; when associated with A-193."; /evidence="ECO:0000269|PubMed:21385873"; MUTAGEN 193; /note="F->A: Completely abolishes nuclear import; when associated with W-24 or D-112. Little affect on nuclear import; when associated with A-10. Greatly impaired nuclear import; when associated with K-20 or G-50. Almost completely abolishes nuclear import; when associated with S-18 and V-19."; /evidence="ECO:0000269|PubMed:21385873
uniprot
proteins
post_translational_modification
PTM: Ser-38 is the major site whereas Thr-27 is the minor site of phosphorylation. Phosphorylation regulates its class-switch recombination activity. {ECO:0000269|PubMed:16387847, ECO:0000269|PubMed:18722174}.; PTM: Probably monoubiquitinated on several residues by RNF126. {ECO:0000269|PubMed:23277564}.
uniprot
proteins
protein_family
Cytidine and deoxycytidylate deaminase family
uniprot
proteins
pubmed
10950930
uniprot
proteins
pubmed
11007475
uniprot
proteins
pubmed
11544457
uniprot
proteins
pubmed
12202747
uniprot
proteins
pubmed
14769937
uniprot
proteins
pubmed
14962793
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16387847
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18722174
uniprot
proteins
pubmed
20507984
uniprot
proteins
pubmed
21385873
uniprot
proteins
pubmed
21496894
uniprot
proteins
pubmed
21518874
uniprot
proteins
pubmed
21659520
uniprot
proteins
pubmed
23166356
uniprot
proteins
pubmed
23277564
uniprot
proteins
pubmed
23803409
uniprot
proteins
pubmed
26545377
uniprot
proteins
pubmed
27258794
uniprot
proteins
pubmed
27716525
uniprot
proteins
pubmed
32484799
uniprot
proteins
sequence_length
198
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21385873, ECO:0000269|PubMed:32484799}. Cytoplasm, cytosol {ECO:0000269|PubMed:18722174, ECO:0000269|PubMed:21385873, ECO:0000269|PubMed:23166356, ECO:0000269|PubMed:32484799}. Note=Predominantly cytosolic (PubMed:21385873). In the presence of MCM3AP/GANP, relocalizes to the nucleus (By similarity). {ECO:0000250|UniProtKB:Q9WVE0, ECO:0000269|PubMed:21385873}.
uniprot
proteins