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ADA adenosine deaminase [ Homo sapiens (human) ]

Gene ID: 100, updated on 21-Dec-2014
Official Symbol
ADAprovided by HGNC
Official Full Name
adenosine deaminaseprovided by HGNC
Primary source
HGNC: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 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

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
    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
    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
    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 CHM1_1.1

Genomic

  1. NC_018931.2 

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

Alternate HuRef

Genomic

  1. AC_000152.1 

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