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FLASH GENE
Symbol ADA contributors: - updated : 13-10-2006
HGNC name adenosine deaminase
HGNC id 186
Corresponding disease
ADA severe, combined (complete ADA deficiency)
Location 20q12-q13.1      Physical location : 43.248.163 - 43.280.376
Synonym name
  • adenosine aminohydrolase
    • EC.number 3.5.4.4
    DNA
    TYPE functioning gene
    STRUCTURE 32.00 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure including a locus control region LCR-ADA (see symbol) in intron 1
    MAPPING cloned Y linked Y status confirmed
    Map cen - SRC - D20S44 - D20S46 - D20S55 - D20S43 - D20S150 - D20S169 - D20S89 - ADA ADA /D20S119 - D20S424 - D20S481 - PPGB - MMP9 - D20S17 - D20S16 - D20S75 - D20S33 - qter
    Authors Rotschild (93), Ting (93), Stöffel (96)
    Physical map
    RPL27AP 20q13.11 ribosomal protein L27a pseudogene MYBL2 20q13.1 v-myb myeloblastosis viral oncogene homolog (avian)-like 2 C20orf65 20q13.11 chromosome 20 open reading frame 65 C20orf100 20q13.11 chromosome 20 open reading frame 100 JPH2 20q12-q13.1 junctophilin 2 C20orf111 20q13.11 chromosome 20 open reading frame 111 GDAP1L1 20q12 ganglioside-induced differentiation-associated protein 1-like 1 C20orf142 20q13.12 chromosome 20 open reading frame 142 R3HDML 20 R3H domain (binds single-stranded nucleic acids) containing-like FLJ39654 20q13.12 hypothetical protein FLJ39654 LOC149704 20q13.12 hypothetical LOC149704 HNF4A 20q12-q13.1 hepatocyte nuclear factor 4, alpha RPL37AP1 20q12 ribosomal protein L37a pseudogene 1 C20orf121 20q13.11 chromosome 20 open reading frame 121 TDE1 20q13.1-q13.3 tumor differentially expressed 1 PKIG 20q13.2-q13.13 protein kinase (cAMP-dependent, catalytic) inhibitor gamma ADA 20q12 adenosine deaminase MGC5566 20q13.12 hypothetical protein MGC5566 WISP2 20q12-q13.1 WNT1 inducible signaling pathway protein 2 KCNK15 20q12-q13 potassium channel, subfamily K, member 15 RIMS4 20 regulating synaptic membrane exocytosis 4 LOC391252 20 similar to piggyBac transposable element derived 4 YWHAB 20q13.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide LOC200226 20q13.12 similar to Polyadenylate-binding protein 2 (Poly(A)-binding protein 2) (PABP 2) TOMM34 20q12-q13.11 translocase of outer mitochondrial membrane 34 STK4 20q11.2-q13.2 serine/threonine kinase 4 KCNS1 20q12 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 WFDC5 20q13.11 WAP four-disulfide core domain 5 WFDC12 20q12-q13.1 WAP four-disulfide core domain 12 PI3 20q12-q13 protease inhibitor 3, skin-derived (SKALP) SEMG1 20q13.1 semenogelin I SEMG2 20q13.1 semenogelin II LOC149709 20q13.12 similar to RIKEN cDNA 1700049M11 SLPI 20q12-q13.2 secretory leukocyte protease inhibitor (antileukoproteinase) MATN4 20q13.1-q13.2 matrilin 4 RBPSUHL 20q12-q13.1 recombining binding protein suppressor of hairless (Drosophila)-like SDC4 20q13.1 syndecan 4 (amphiglycan, ryudocan) C20orf35 20q13.12 chromosome 20 open reading frame 35 C20orf10 20q12-13.12 chromosome 20 open reading frame 10 PIGT 20q12-q13.1 phosphatidyl inositol glycan class T LOC149710 20q13.12 hypothetical LOC149710 WFDC2 20q12-q13.2 WAP four-disulfide core domain 2 WFDC6 20q13.12 WAP four-disulfide core domain 6
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1566 - 363 - Luo
    - - - - - - Zavialov
  • heparin-binding protein
  • member of a new class of ADGFs (ADA-related growth factors)
  • may be active in sites of inflammation during hypoxia and in areas of tumour growth where the adenosine concentration is significantly elevated and the extracellular pH is acidic
    		•
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Digestiveintestinesmall intestine  moderately
    Lymphoid/Immunelymph node   highly
     thymus   predominantly
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    Text during weaning, in gastrointestinal tissue
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		a deaminase motif
    HOMOLOGY
    interspecies ortholog to rattus Ada
    ortholog to murine Ada
    Homologene
    FAMILY
  • metallopeptidase family
  • adenosine and amidohydrolase superfamily
    • CATEGORY enzyme , immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing the hydrolysis of adenosine to inosine
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    text
  • antimicrobial humoral response
    • PATHWAY
    metabolism purine/pyrimidine
    signaling
  • nucleotide metabolism, purine ribonucleoside monophosphate biosynthesis
    • a component component of the mammalian STAGA (SUPT3H-TAF9-ADA-PCAF acetyltransferase) a chromatin-acetylating transcription coactivator that interacts with pre-mRNA splicing and DNA damage-binding factors
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ADA
    related resource Mutation registry for Adenosine Deaminase Deficiency -ADAbase
    Susceptibility ADA variant not involved in susceptibility to essential hypertension
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS