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    ADA adenosine deaminase [ Homo sapiens (human) ]

    Gene ID: 100, updated on 26-Jul-2021

    Summary

    Official Symbol
    ADAprovided by HGNC
    Official Full Name
    adenosine deaminaseprovided by HGNC
    Primary source
    HGNC:HGNC:186
    See related
    Ensembl:ENSG00000196839 MIM:608958
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADA1
    Summary
    This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
    Expression
    Biased expression in duodenum (RPKM 234.2) and lymph node (RPKM 16.6) See more
    Orthologs
    NEW
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    Genomic context

    See ADA in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (44619522..44651699, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43248163..43280340, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene serine incorporator 3 Neighboring gene Sharpr-MPRA regulatory region 7879 Neighboring gene cAMP-dependent protein kinase inhibitor gamma Neighboring gene adenosine deaminase intronic regulatory elements Neighboring gene proximal ADA Alu-mediated recombination region Neighboring gene distal ADA Alu-mediated recombination region Neighboring gene long intergenic non-protein coding RNA 1260

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of adenosine deaminase (ADA) in human B cells PubMed
    env HIV-1 gp120 inhibits adenosine deaminase (ADA) binding to CD26 (dipeptidyl-peptidase 4) in both CD4+ and CD4- cells; this effect requires the interaction of gp120 with CD4 or CXCR4 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2'-deoxyadenosine deaminase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables adenosine deaminase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables adenosine deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables adenosine deaminase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenosine deaminase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables purine nucleoside binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in AMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Peyer's patch development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenosine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within adenosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenosine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in allantoin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dAMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dATP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in deoxyadenosine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in germinal center B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in histamine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hypoxanthine salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in inosine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within inosine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inosine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of adenosine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of adenosine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of circadian sleep/wake cycle, non-REM sleep IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of leukocyte migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mature B cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mucus secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of penile erection IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of thymocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of germinal center formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of heart rate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in purine nucleotide salvage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in purine ribonucleoside monophosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in purine-containing compound salvage TAS
    Traceable Author Statement
    more info
     
    involved_in regulation of cell-cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to morphine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin E IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in trophectodermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in xanthine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle lumen IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    adenosine deaminase
    Names
    adenosine aminohydrolase
    NP_000013.2
    NP_001308979.1
    NP_001308980.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007385.1 RefSeqGene

      Range
      5001..37214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_16

    mRNA and Protein(s)

    1. NM_000022.4NP_000013.2  adenosine deaminase isoform 1

      See identical proteins and their annotated locations for NP_000013.2

      Status: REVIEWED

      Source sequence(s)
      AL139352, Z97053
      Consensus CDS
      CCDS13335.1
      UniProtKB/Swiss-Prot
      P00813
      UniProtKB/TrEMBL
      A0A0S2Z381
      Related
      ENSP00000361965.4, ENST00000372874.9
      Conserved Domains (1) summary
      cl00281
      Location:9347
      metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...
    2. NM_001322050.2NP_001308979.1  adenosine deaminase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL139352, Z97053
      Conserved Domains (1) summary
      cl00281
      Location:26212
      metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...
    3. NM_001322051.2NP_001308980.1  adenosine deaminase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL139352, Z97053
      Consensus CDS
      CCDS82618.1
      UniProtKB/TrEMBL
      F5GWI4
      Related
      ENSP00000441818.1, ENST00000537820.1
      Conserved Domains (1) summary
      cl00281
      Location:9323
      metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

    RNA

    1. NR_136160.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL139352, Z97053
      Related
      ENST00000536532.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      44619522..44651699 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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