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ADA adenosine deaminase [ Homo sapiens (human) ]

Gene ID: 100, updated on 11-Jun-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
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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 biosynthetic 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)

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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_000022.4NP_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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