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    ADA adenosine deaminase [ Homo sapiens (human) ]

    Gene ID: 100, updated on 8-Oct-2017
    Official Symbol
    ADAprovided by HGNC
    Official Full Name
    adenosine deaminaseprovided by HGNC
    Primary source
    HGNC:HGNC:186
    See related
    Ensembl:ENSG00000196839 MIM:608958; Vega:OTTHUMG00000033081
    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
    Summary
    This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    20q13.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (44619519..44651758, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43248160..43280376, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene serine incorporator 3 Neighboring gene cAMP-dependent protein kinase inhibitor gamma Neighboring gene long intergenic non-protein coding RNA 1260 Neighboring gene KCNK15 antisense RNA 1 (head to head) Neighboring gene WNT1 inducible signaling pathway protein 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog

    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

    • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      C-MYB transcription factor network, organism-specific biosystem
      C-MYB transcription factor network
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
      Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
    • Primary immunodeficiency, organism-specific biosystem (from KEGG)
      Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Primary immunodeficiency, conserved biosystem (from KEGG)
      Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Purine metabolism, organism-specific biosystem (from KEGG)
      Purine metabolism, organism-specific biosystem
      Purine metabolism
    • Purine metabolism, organism-specific biosystem (from REACTOME)
      Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
    • Purine metabolism, conserved biosystem (from KEGG)
      Purine metabolism, conserved biosystem
      Purine metabolism
    • Purine salvage, organism-specific biosystem (from REACTOME)
      Purine salvage, organism-specific biosystemNucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathway of purine biosynthesis. Nucleosides and free bases...
    • adenine and adenosine salvage III, organism-specific biosystem (from BIOCYC)
      adenine and adenosine salvage III, organism-specific biosystemAdenosine nucleotides can be synthesized de novo. In that route : AMP is synthesized via : IMP and : ADENYLOSUCC, which is converted to AMP by the action of : CPLX66-363, see : PWY-7219. Note that th...
    • adenine and adenosine salvage III, conserved biosystem (from BIOCYC)
      adenine and adenosine salvage III, conserved biosystemAdenosine nucleotides can be synthesized de novo. In that route |FRAME: AMP| (AMP) is synthesized via |FRAME: IMP| (IMP) and |FRAME: ADENYLOSUCC| , which is converted to AMP by the action of |FRAME: ...
    • adenosine nucleotides degradation, organism-specific biosystem (from BIOCYC)
      adenosine nucleotides degradation, organism-specific biosystemGeneral Background The distinction between nucleoside degradation and salvage is not always straightforward. A general rule is that degradation pathways start with the nucleotide forms and convert t...
    • adenosine nucleotides degradation II, conserved biosystem (from BIOCYC)
      adenosine nucleotides degradation II, conserved biosystemGeneral Background The distinction between nucleoside degradation and salvage is not always straight forward. A general rule is that degradation pathways start with the nucleotide forms and convert ...
    • purine deoxyribonucleosides degradation, organism-specific biosystem (from BIOCYC)
      purine deoxyribonucleosides degradation, organism-specific biosystemGeneral Background The ubiquitous purine nucleoside phosphorylases catalyze the phosphorolysis of the glycosidic bond of ribo- and 2'-deoxyribo-nucleosides in the presence of inorganic phosphate (Pi...
    • purine deoxyribonucleosides degradation II, conserved biosystem (from BIOCYC)
      purine deoxyribonucleosides degradation II, conserved biosystemGeneral Background The ubiquitous |FRAME: EC-2.4.2.1|, catalyzes the phosphorolysis of the glycosidic bond of ribo- and 2'-deoxyribo-nucleosides in the presence of inorganic phosphate (Pi), in a rev...
    • purine nucleotides degradation, organism-specific biosystem (from BIOCYC)
      purine nucleotides degradation, organism-specific biosystem
      purine nucleotides degradation
    • purine nucleotides degradation II (aerobic), conserved biosystem (from BIOCYC)
      purine nucleotides degradation II (aerobic), conserved biosystemGeneral Background This pathway depicts the degradation of purine nucleotides to purine nucleosides, purine bases, and |FRAME: URATE|. Further degradation is shown in the pathway llink. Purine degra...
    • purine ribonucleosides degradation, conserved biosystem (from BIOCYC)
      purine ribonucleosides degradation, conserved biosystem|FRAME:TAX-562| can use all four naturally occurring purine ribonucleosides (adenosine, guanosine, inosine and xanthosine) as total sources of carbon and energy. The first three (adenosine, guanosin...
    • purine ribonucleosides degradation to ribose-1-phosphate, organism-specific biosystem (from BIOCYC)
      purine ribonucleosides degradation to ribose-1-phosphate, organism-specific biosystem
      purine ribonucleosides degradation to ribose-1-phosphate
    • superpathway of purine nucleotide salvage, organism-specific biosystem (from BIOCYC)
      superpathway of purine nucleotide salvage, organism-specific biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...
    • superpathway of purine nucleotide salvage, conserved biosystem (from BIOCYC)
      superpathway of purine nucleotide salvage, conserved biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    adenosine deaminase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    adenosine deaminase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adenosine deaminase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    purine nucleoside binding IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    Peyer's patch development IEA
    Inferred from Electronic Annotation
    more info
     
    T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adenosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adenosine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    dATP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    deoxyadenosine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    germinal center B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    histamine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    hypoxanthine salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    inosine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inosine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of adenosine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of circadian sleep/wake cycle, non-REM sleep IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of leukocyte migration IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mature B cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mucus secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of penile erection IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of thymocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of germinal center formation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of heart rate IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    purine nucleotide salvage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    purine ribonucleoside monophosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    purine-containing compound salvage TAS
    Traceable Author Statement
    more info
     
    regulation of cell-cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to morphine IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin E IEA
    Inferred from Electronic Annotation
    more info
     
    trophectodermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    xanthine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle lumen IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    adenosine deaminase
    Names
    adenosine aminohydrolase
    NP_000013.2
    NP_001308979.1
    NP_001308980.1

    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_000022.3NP_000013.2  adenosine deaminase isoform 1

      See identical proteins and their annotated locations for NP_000013.2

      Status: REVIEWED

      Source sequence(s)
      AW450871, BC040226, HY102642
      Consensus CDS
      CCDS13335.1
      UniProtKB/Swiss-Prot
      P00813
      UniProtKB/TrEMBL
      A0A0S2Z381
      Related
      ENSP00000361965.4, OTTHUMP00000031785, ENST00000372874.8, OTTHUMT00000080509
      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_001322050.1NP_001308979.1  adenosine deaminase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AW450871, CD014053, HY102642
      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_001322051.1NP_001308980.1  adenosine deaminase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AW450871, HY102642, Z97053
      Consensus CDS
      CCDS82618.1
      UniProtKB/TrEMBL
      F5GWI4
      Related
      ENSP00000441818.1, OTTHUMP00000240461, ENST00000537820.1, OTTHUMT00000402954
      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_136160.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AW450871, CD014056, HY102642
      Related
      ENST00000536532.5, OTTHUMT00000402952

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      44619519..44651758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      43151276..43183515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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