ENSG00000111732


Homo sapiens

Features
Gene ID: ENSG00000111732
  
Biological name :AICDA
  
Synonyms : activation induced cytidine deaminase / AICDA / Q9GZX7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p13.31
Gene start: 8602166
Gene end: 8612871
  
Corresponding Affymetrix probe sets: 219841_at (Human Genome U133 Plus 2.0 Array)   224499_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000439103
Ensembl peptide - ENSP00000443060
Ensembl peptide - ENSP00000445691
Ensembl peptide - ENSP00000229335
Ensembl peptide - ENSP00000439538
NCBI entrez gene - 57379     See in Manteia.
OMIM - 605257
RefSeq - XM_011520773
RefSeq - NM_020661
RefSeq - XM_011520772
RefSeq Peptide - NP_001317272
RefSeq Peptide - NP_065712
swissprot - Q9GZX7
swissprot - H0YFP1
swissprot - H0YGF6
swissprot - Q546Y9
swissprot - H0YFL3
Ensembl - ENSG00000111732
  
Related genetic diseases (OMIM): 605258 - Immunodeficiency with hyper-IgM, type 2, 605258
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aicdaENSDARG00000015734Danio rerio
 AICDAENSGALG00000014280Gallus gallus
 AicdaENSMUSG00000040627Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9HC16 / APOBEC3G / apolipoprotein B mRNA editing enzyme catalytic subunit 3GENSG0000023971341
Q9UH17 / APOBEC3B / apolipoprotein B mRNA editing enzyme catalytic subunit 3BENSG0000017975040
Q8IUX4 / APOBEC3F / apolipoprotein B mRNA editing enzyme catalytic subunit 3FENSG0000012839439
Q9NRW3 / APOBEC3C / apolipoprotein B mRNA editing enzyme catalytic subunit 3CENSG0000024450939
P31941 / APOBEC3A / apolipoprotein B mRNA editing enzyme catalytic subunit 3AENSG0000012838339
Q96AK3 / APOBEC3D / apolipoprotein B mRNA editing enzyme catalytic subunit 3DENSG0000024381137
AL022318.4ENSG0000028455437
Q6NTF7 / APOBEC3H / apolipoprotein B mRNA editing enzyme catalytic subunit 3HENSG0000010029832
Q9Y235 / APOBEC2 / apolipoprotein B mRNA editing enzyme catalytic subunit 2ENSG0000012470130
P41238 / APOBEC1 / apolipoprotein B mRNA editing enzyme catalytic subunit 1ENSG0000011170128


Protein motifs (from Interpro)
Interpro ID Name
 IPR002125  Cytidine and deoxycytidylate deaminase domain
 IPR013158  APOBEC-like, N-terminal
 IPR016192  APOBEC/CMP deaminase, zinc-binding
 IPR016193  Cytidine deaminase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0009972 cytidine deamination IEA
 biological_processGO:0016445 somatic diversification of immunoglobulins IDA
 biological_processGO:0016446 somatic hypermutation of immunoglobulin genes IMP
 biological_processGO:0030183 B cell differentiation NAS
 biological_processGO:0042742 defense response to bacterium IEA
 biological_processGO:0045190 isotype switching IEA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0080111 DNA demethylation IDA
 biological_processGO:0090310 negative regulation of methylation-dependent chromatin silencing IDA
 biological_processGO:0097752 regulation of DNA stability IMP
 cellular_componentGO:0000178 exosome (RNase complex) IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004126 cytidine deaminase activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016814 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0002718 Recurrent bacterial infections 
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 HP:0002720 Decreased IgA 
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 HP:0002721 Immunodeficiency 
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 HP:0002959 Impaired Ig class switch recombination (CSR) 
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 HP:0004315 Decreased IgG level "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson]
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 HP:0004798 Gastrointestinal infections 
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 HP:0200117 Recurrent upper and lower respiratory tract infections 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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