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    ADA adenosine deaminase [ Homo sapiens (human) ]

    Gene ID: 100, updated on 27-Dec-2024

    Summary

    Official Symbol
    ADAprovided by HGNC
    Official Full Name
    adenosine deaminaseprovided by HGNC
    Primary source
    HGNC:HGNC:186
    See related
    Ensembl:ENSG00000196839 MIM:608958; AllianceGenome:HGNC:186
    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
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    Genomic context

    See ADA in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44619522..44651699, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46355294..46387474, complement)
    RS_2024_09 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 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:43124829-43126028 Neighboring gene serine incorporator 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43149922-43150474 Neighboring gene Sharpr-MPRA regulatory region 7879 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:43152936-43153812 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43154689-43155564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43160105-43160605 Neighboring gene cAMP-dependent protein kinase inhibitor gamma Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43226219-43226966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43229479-43229980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43237694-43238268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17933 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:43246415-43247142 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 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43299119-43299620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43299621-43300120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43306608-43307108 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43307109-43307609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17940 Neighboring gene uncharacterized LOC124904911 Neighboring gene Sharpr-MPRA regulatory region 14821 Neighboring gene KCNK15 and WISP2 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1274 screens)

    Associated conditions

    EBI GWAS Catalog

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

    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

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2'-deoxyadenosine deaminase activity PubMed 
    enables adenosine deaminase activity  
    enables adenosine deaminase activity PubMed 
    enables adenosine deaminase activity PubMed 
    enables adenosine deaminase activity  
    enables deaminase activity PubMed 
    enables deaminase activity  
    enables protein binding PubMed 
    enables zinc ion binding PubMed 
    enables zinc ion binding  
    Items 1 - 25 of 62
    Process Evidence Code Pubs
    involved_in AMP catabolic process  
    involved_in AMP salvage  
    involved_in B cell proliferation  
    involved_in GMP salvage  
    involved_in Peyer's patch development  
    involved_in T cell activation  
    involved_in T cell activation PubMed 
    involved_in T cell differentiation in thymus  
    involved_in T cell receptor signaling pathway  
    involved_in adenosine catabolic process  
    acts_upstream_of_or_within adenosine catabolic process PubMed 
    involved_in adenosine catabolic process PubMed 
    involved_in adenosine catabolic process  
    involved_in adenosine metabolic process PubMed 
    involved_in allantoin metabolic process  
    involved_in alpha-beta T cell differentiation  
    involved_in amide catabolic process  
    involved_in calcium-mediated signaling  
    involved_in cell adhesion  
    involved_in dAMP catabolic process  
    involved_in dATP catabolic process  
    involved_in deoxyadenosine catabolic process  
    involved_in embryonic digestive tract development  
    involved_in germinal center B cell differentiation  
    involved_in germinal center formation  
    involved_in hypoxanthine salvage  
    involved_in inosine biosynthetic process  
    acts_upstream_of_or_within inosine biosynthetic process PubMed 
    involved_in inosine biosynthetic process  
    involved_in leukocyte migration  
    involved_in liver development  
    involved_in lung alveolus development  
    involved_in mature B cell apoptotic process  
    involved_in mucus secretion  
    involved_in negative regulation of adenosine receptor signaling pathway  
    involved_in negative regulation of adenosine receptor signaling pathway PubMed 
    involved_in negative regulation of inflammatory response  
    involved_in negative regulation of leukocyte migration  
    involved_in negative regulation of mature B cell apoptotic process  
    involved_in negative regulation of mucus secretion  
    involved_in negative regulation of penile erection  
    involved_in negative regulation of thymocyte apoptotic process  
    involved_in penile erection  
    involved_in placenta development  
    involved_in positive regulation of B cell proliferation  
    involved_in positive regulation of T cell differentiation in thymus  
    involved_in positive regulation of T cell receptor signaling pathway  
    involved_in positive regulation of alpha-beta T cell differentiation  
    involved_in positive regulation of calcium-mediated signaling  
    involved_in positive regulation of germinal center formation  
    involved_in positive regulation of heart rate  
    involved_in positive regulation of smooth muscle contraction  
    involved_in purine nucleotide salvage PubMed 
    involved_in purine-containing compound salvage  
    involved_in regulation of cell-cell adhesion mediated by integrin PubMed 
    involved_in response to hypoxia PubMed 
    involved_in response to purine-containing compound PubMed 
    involved_in smooth muscle contraction  
    involved_in thymocyte apoptotic process  
    involved_in trophectodermal cell differentiation  
    involved_in xanthine biosynthetic process  
    involved_in xenobiotic metabolic process  
    Items 1 - 25 of 62
    Component Evidence Code Pubs
    located_in anchoring junction  
    located_in cell surface PubMed 
    located_in cytoplasmic vesicle lumen  
    is_active_in cytosol  
    located_in cytosol  
    located_in cytosol  
    is_active_in external side of plasma membrane  
    located_in external side of plasma membrane PubMed 
    located_in lysosome PubMed 
    located_in membrane PubMed 
    located_in plasma membrane  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_000022.4 → NP_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, Q53F92, Q6LA59
      UniProtKB/TrEMBL
      A0A0S2Z381, A0A8Q3SJ63, A0A8Q3WL01, X5D767
      Related
      ENSP00000361965.4, ENST00000372874.9
      Conserved Domains (1) summary
      cl00281
      Location:9 → 347
      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_001322050.2 → NP_001308979.1  adenosine deaminase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL139352, Z97053
      Conserved Domains (1) summary
      cl00281
      Location:26 → 212
      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_001322051.2 → NP_001308980.1  adenosine deaminase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL139352, Z97053
      Consensus CDS
      CCDS82618.1
      UniProtKB/TrEMBL
      A0A8Q3WKZ5, F5GWI4
      Related
      ENSP00000441818.1, ENST00000537820.2
      Conserved Domains (1) summary
      cl00281
      Location:9 → 323
      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
      ENST00000536532.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46355294..46387474 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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