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ADA adenosine deaminase [ Homo sapiens (human) ]

Gene ID: 100, updated on 19-Jul-2014
Official Symbol
ADAprovided by HGNC
Official Full Name
adenosine deaminaseprovided by HGNC
Primary source
HGNC:186
See related
Ensembl:ENSG00000196839; HPRD:00038; 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]
Location:
20q13.12
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (44619519..44651735, 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 protein kinase (cAMP-dependent, catalytic) inhibitor gamma Neighboring gene long intergenic non-protein coding RNA 1260 Neighboring gene WNT1 inducible signaling pathway protein 2

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 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 Protein 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
  • 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 (AMP) is synthesized via : IMP (IMP) and : ADENYLOSUCC, which is converted to AMP by the action of : ASL-MONOMER (see : PWY-6126)...
  • 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 II, organism-specific biosystem (from BIOCYC)
    adenosine nucleotides degradation II, 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 nucleotides degradation II (aerobic), organism-specific biosystem (from BIOCYC)
    purine nucleotides degradation II (aerobic), organism-specific biosystem
    purine nucleotides degradation II (aerobic)
  • 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 (mammalia), conserved biosystem (from BIOCYC)
    superpathway of purine nucleotide salvage (mammalia), 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 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
 
nucleobase-containing small molecule metabolic process TAS
Traceable Author Statement
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 nucleobase metabolic process TAS
Traceable Author Statement
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
 
small molecule metabolic process TAS
Traceable Author Statement
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 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasmic membrane-bounded vesicle lumen IEA
Inferred from Electronic Annotation
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
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
adenosine deaminase
Names
adenosine deaminase
adenosine aminohydrolase
NP_000013.2

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 

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

mRNA and Protein(s)

  1. NM_000022.2NP_000013.2  adenosine deaminase

    See proteins identical to NP_000013.2

    Status: REVIEWED

    Source sequence(s)
    BC040226, BI601734
    Consensus CDS
    CCDS13335.1
    UniProtKB/Swiss-Prot
    P00813
    Related
    ENSP00000361965, OTTHUMP00000031785, ENST00000372874, OTTHUMT00000080509
    Conserved Domains (1) summary
    cd01320
    Location:8347
    Blast Score: 1066
    ADA; Adenosine deaminase (ADA) is a monomeric zinc dependent enzyme which catalyzes the irreversible hydrolytic deamination of both adenosine, as well as desoxyadenosine, to ammonia and inosine or desoxyinosine, respectively. ADA plays an important role in ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    44619519..44651735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260236.1XP_005260293.1  

    UniProtKB/TrEMBL
    F5GWI4
    Conserved Domains (1) summary
    cd01320
    Location:8323
    Blast Score: 945
    ADA; Adenosine deaminase (ADA) is a monomeric zinc dependent enzyme which catalyzes the irreversible hydrolytic deamination of both adenosine, as well as desoxyadenosine, to ammonia and inosine or desoxyinosine, respectively. ADA plays an important role in ...
  2. XM_006723679.1XP_006723742.1  

    Conserved Domains (1) summary
    cd01320
    Location:8338
    Blast Score: 1027
    ADA; Adenosine deaminase (ADA) is a monomeric zinc dependent enzyme which catalyzes the irreversible hydrolytic deamination of both adenosine, as well as desoxyadenosine, to ammonia and inosine or desoxyinosine, respectively. ADA plays an important role in ...

RNA

  1. XR_244129.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    39989704..40021872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    43151279..43183492
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)