ENSG00000111732


Homo sapiens
bindingAICDAcytidineactivitydeaminaseproteininfectionssomaticresponsednaregulationionhydrolaserecurrentdecreaseddeoxycytidylatedomainapobec-liken-terminalapobeccmpzinc-bindingdeaminase-likemrnaprocessingdeaminationdiversificationimmunoglobulinshypermutationimmunoglobulingenes

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
P31941 / APOBEC3A / apolipoprotein B mRNA editing enzyme catalytic subunit 3AENSG0000012838339
Q8IUX4 / APOBEC3F / apolipoprotein B mRNA editing enzyme catalytic subunit 3FENSG0000012839439
Q9NRW3 / APOBEC3C / apolipoprotein B mRNA editing enzyme catalytic subunit 3CENSG0000024450939
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)
nitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processcatabolic processsmall molecule metabolic processproduction of molecular mediator of immune responseanatomical structure developmentcellular developmental processcell activationresponse to stressresponse to external stimulusresponse to biotic stimulusimmune responseimmune effector processresponse to chemicalcellular response to stimulusdemethylationbiosynthetic processcellular component organizationregulation of biological qualitynitrognitrogen compound metabolic processcellulcellular metabolic processprimarprimary metabolic processorganiorganic substance metabolic processcatabocatabolic processsmall small molecule metabolic processproducproduction of molecular mediator of immune responseanatomanatomical structure developmentcellulcellular developmental processcell acell activationresponresponse to stressresponresponse to external stimulusresponresponse to biotic stimulusimmuneimmune responseimmuneimmune effector processresponresponse to chemicalcellulcellular response to stimulusdemethdemethylationbiosynbiosynthetic processcellulcellular component organizationregularegulation of biological quality
hydrolase activityprotein bindingion bindinghydrolase activityprotein bindingion bindinghydrolase activityprotein bindingion bindinghydrolase activityprotein bindingion bindinghydrolase activityprotein bindingion bindinghydrolase activityprotein bindingion bindinghydrolase activityprotein bindingion bindinghydrolase activityprotein bindingion bindinghydrolase activityprotein bindingion bindinghydrolase activityprotein bindingion bindinghydrolase activityhydrolase activityprotein bindingprotein bindingion bindingion binding
cellprotein-containing complexorganellecellprotein-containing complexorganellecellprotein-containing complexorganellecellprotein-containing complexorganellecellprotein-containing complexorganellecellprotein-containing complexorganellecellprotein-containing complexorganellecellprotein-containing complexorganellecellprotein-containing complexorganellecellprotein-containing complexorganellecellcellprotein-containing complexprotein-containing complexorganelleorganelle
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)
Autosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive inheritanceImmunological abnormalityMetabolism abnormalityHematological abnormalityAbnormality of the digestive systemHead and neck abnormalityRespiratory abnormalityAutosomal recessive Autosomal recessive inheritanceImmunological abnormImmunological abnormalityMetabolism abnormaliMetabolism abnormalityHematological abnormHematological abnormalityAbnormality of the dAbnormality of the digestive systemHead and neck abnormHead and neck abnormalityRespiratory abnormalRespiratory abnormality
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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