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Aliases for ADA Gene

Aliases for ADA Gene

  • Adenosine Deaminase 2 3
  • EC 3.5.4.4 4 64
  • Adenosine Aminohydrolase 4
  • ADA1 4

External Ids for ADA Gene

Summaries for ADA Gene

Entrez Gene Summary for ADA Gene

  • 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]

GeneCards Summary for ADA Gene

ADA (Adenosine Deaminase) is a Protein Coding gene. Diseases associated with ADA include listeria meningitis and cauda equina syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include adenosine deaminase activity and purine nucleoside binding.

UniProtKB/Swiss-Prot for ADA Gene

  • Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion.

Tocris Summary for ADA Gene

  • Deaminases are enzymes that catalyze the hydrolysis of C-NH2 bonds in amino compounds, producing ammonia. Adenosine deaminases (ADA) irreversibly convert adenosine into inosine by the removal of an amino group and they are necessary for the breakdown of food and turnover of nucleic acids.

Gene Wiki entry for ADA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADA Gene

Genomics for ADA Gene

Genomic Location for ADA Gene

Start:
44,619,519 bp from pter
End:
44,652,233 bp from pter
Size:
32,715 bases
Orientation:
Minus strand

Genomic View for ADA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADA Gene

Regulatory Elements for ADA Gene

Proteins for ADA Gene

  • Protein details for ADA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00813-ADA_HUMAN
    Recommended name:
    Adenosine deaminase
    Protein Accession:
    P00813
    Secondary Accessions:
    • Q53F92
    • Q6LA59

    Protein attributes for ADA Gene

    Size:
    363 amino acids
    Molecular mass:
    40764 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Interacts with DPP4 (extracellular domain).

    Three dimensional structures from OCA and Proteopedia for ADA Gene

neXtProt entry for ADA Gene

Proteomics data for ADA Gene at MOPED

Selected DME Specific Peptides for ADA Gene

Post-translational modifications for ADA Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys23, Lys54, Lys92, Lys111, Lys147, Lys164, Lys171, Lys206, Lys225, Lys232, Lys273, Lys284, Lys301, Lys312, Lys323, Lys331, and Lys340

Other Protein References for ADA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ADA Gene

Gene Families for ADA Gene

UniProtKB/Swiss-Prot:

ADA_HUMAN
Family:
  • Belongs to the adenosine and AMP deaminases family.:
    • P00813
genes like me logo Genes that share domains with ADA: view

Function for ADA Gene

Molecular function for ADA Gene

GENATLAS Biochemistry: adenosine deaminase,adenine nucleotide catalytic pathway,including a locus control region LCR-ADA (see symbol) in intron 1
UniProtKB/Swiss-Prot CatalyticActivity: Adenosine + H(2)O = inosine + NH(3)
UniProtKB/Swiss-Prot Function: Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion.

Enzyme Numbers (IUBMB) for ADA Gene

Gene Ontology (GO) - Molecular Function for ADA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001883 purine nucleoside binding IEA --
GO:0004000 adenosine deaminase activity ISS --
GO:0005515 protein binding IPI 14684150
GO:0008270 zinc ion binding ISS --
GO:0019239 deaminase activity --
genes like me logo Genes that share ontologies with ADA: view
genes like me logo Genes that share phenotypes with ADA: view

Animal Models for ADA Gene

MGI Knock Outs for ADA:

miRNA for ADA Gene

miRTarBase miRNAs that target ADA

No data available for Transcription Factor Targeting and HOMER Transcription for ADA Gene

Localization for ADA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADA Gene

Cell membrane; Peripheral membrane protein; Extracellular side. Cell junction. Cytoplasmic vesicle lumen. Cytoplasm. Note=Colocalized with DPP4 at the cell junction in lymphocyte-epithelial cell adhesion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADA Gene COMPARTMENTS Subcellular localization image for ADA gene
Compartment Confidence
lysosome 5
plasma membrane 5
vacuole 5
cytosol 4
extracellular 3
mitochondrion 2
nucleus 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for ADA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IDA --
GO:0005764 lysosome IDA 8452534
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ADA: view

Pathways for ADA Gene

genes like me logo Genes that share pathways with ADA: view

Gene Ontology (GO) - Biological Process for ADA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 16670267
GO:0001701 in utero embryonic development --
GO:0001821 histamine secretion IEA --
GO:0001829 trophectodermal cell differentiation IEA --
GO:0001889 liver development IEA --
genes like me logo Genes that share ontologies with ADA: view

Compounds for ADA Gene

(2) Tocris Compounds for ADA Gene

Compound Action Cas Number
1-Deazaadenosine Adenosine deaminase inhibitor [14432-09-8]
Pentostatin Adenosine deaminase inhibitor [53910-25-1]

(7) HMDB Compounds for ADA Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine
  • 1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
58-61-7
Ammonia
  • NH3
7664-41-7
Deoxyadenosine
  • 1-(6-amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose
958-09-8
Deoxyinosine
  • 2'-Deoxyinosine
890-38-0
Inosine
  • (-)-Inosine
58-63-9

(2) IUPHAR Ligand for ADA Gene

Ligand Type Action Affinity Pubmed IDs
pentostatin Inhibitor Inhibition 10.8
EHNA Inhibitor Inhibition 5.3

(140) Novoseek inferred chemical compound relationships for ADA Gene

Compound -log(P) Hits PubMed IDs
pentostatin 91.8 98
inosine 88.9 80
coformycin 88.6 14
deoxyadenosine 87.8 75
erythro-9-(2 hydroxy 3-nonyl)adenine 87.6 35
genes like me logo Genes that share compounds with ADA: view

Transcripts for ADA Gene

Unigene Clusters for ADA Gene

Adenosine deaminase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ADA Gene

GeneLoc Exon Structure for
ADA
ECgene alternative splicing isoforms for
ADA

Expression for ADA Gene

mRNA expression in normal human tissues for ADA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ADA Gene

SOURCE GeneReport for Unigene cluster for ADA Gene Hs.654536

mRNA Expression by UniProt/SwissProt for ADA Gene

P00813-ADA_HUMAN
Tissue specificity: Found in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues
genes like me logo Genes that share expressions with ADA: view

Orthologs for ADA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADA 36
  • 98.9 (n)
  • 98.35 (a)
ADA 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADA 36
  • 87.7 (n)
  • 88.71 (a)
ADA 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADA 36
  • 86.98 (n)
  • 86.43 (a)
ADA 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ada 36
  • 81.58 (n)
  • 83.48 (a)
Ada 16
Ada 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADA 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADA 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ada 36
  • 83.38 (n)
  • 85.75 (a)
chicken
(Gallus gallus)
Aves ADA 36
  • 69.24 (n)
  • 67.71 (a)
ADA 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADA 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ada 36
  • 66.48 (n)
  • 72 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9899 36
zebrafish
(Danio rerio)
Actinopterygii ada 36
  • 63.87 (n)
  • 65.55 (a)
ada 37
  • 64 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C06G3.5 36
  • 49.5 (n)
  • 42.17 (a)
C06G3.5 37
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAH1 36
  • 41.27 (n)
  • 28.57 (a)
AAH1 37
  • 24 (a)
OneToOne
AAH1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23167g 36
  • 40.72 (n)
  • 27.36 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dea2 36
  • 40.5 (n)
  • 29.28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 40 (a)
OneToMany
-- 37
  • 34 (a)
OneToMany
Species with no ortholog for ADA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADA Gene

ENSEMBL:
Gene Tree for ADA (if available)
TreeFam:
Gene Tree for ADA (if available)

Paralogs for ADA Gene

No data available for Paralogs for ADA Gene

Variants for ADA Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ADA Gene

P00813-ADA_HUMAN
There is a common allele, ADA*2, also known as the ADA 2 allozyme. It is associated with the reduced metabolism of adenosine to inosine. It specifically enhances deep sleep and slow-wave activity (SWA) during sleep

Sequence variations from dbSNP and Humsavar for ADA Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs244072 -- 44,630,665(-) ttaac(C/T)gttta intron-variant
rs244073 -- 44,626,054(+) TGGGG(G/T)CCCAG intron-variant
rs244074 -- 44,625,849(-) ACATG(C/T)TAGGG intron-variant
rs244075 -- 44,624,853(-) TATCC(A/G)GGGAC intron-variant
rs244076 -- 44,624,274(-) GTGGT(A/G)GCCAT reference, synonymous-codon, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ADA Gene

Variant ID Type Subtype PubMed ID
nsv3390 CNV Loss 18451855
esv2668236 CNV Deletion 23128226
nsv498972 CNV Loss 21111241
esv24506 CNV Loss 19812545

Relevant External Links for ADA Gene

HapMap Linkage Disequilibrium report
ADA
Human Gene Mutation Database (HGMD)
ADA
Locus Specific Mutation Databases (LSDB)
ADA

Disorders for ADA Gene

(1) OMIM Diseases for ADA Gene (608958)

UniProtKB/Swiss-Prot

ADA_HUMAN
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]: An autosomal recessive disorder accounting for about 50% of non-X-linked SCIDs. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency. {ECO:0000269 PubMed:10200056, ECO:0000269 PubMed:1284479, ECO:0000269 PubMed:2166947, ECO:0000269 PubMed:2783588, ECO:0000269 PubMed:3182793, ECO:0000269 PubMed:3839802, ECO:0000269 PubMed:6208479, ECO:0000269 PubMed:7599635, ECO:0000269 PubMed:8227344, ECO:0000269 PubMed:8299233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(96) Novoseek inferred disease relationships for ADA Gene

Disease -log(P) Hits PubMed IDs
adenosine deaminase deficiency 97.7 115
pleurisy tuberculous 92 83
severe combined immunodeficiency 88.8 112
tuberculous ascites 83.7 19
pericarditis tuberculous 82.2 30

Genatlas disease for ADA Gene

SCID,autosomal recessive,immunodeficiency,severe,combined (complete ADA deficiency),associating immunodeficiency (B-T cell CD4-lympho and thrombopenia),skeletal dysplasia,recurrent respiratory infections and asthma,hepatoplenomegaly,or slow progressive or late onset (partial ADA deficiency)

Relevant External Links for ADA

GeneTests
ADA
GeneReviews
ADA
Genetic Association Database (GAD)
ADA
Human Genome Epidemiology (HuGE) Navigator
ADA
genes like me logo Genes that share disorders with ADA: view

Publications for ADA Gene

  1. Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. (PMID: 7599635) Santisteban I. … Hershfield M.S. (Hum. Mutat. 1995) 3 4 23
  2. Direct association of adenosine deaminase with a T cell activation antigen, CD26. (PMID: 8101391) Kameoka J. … Morimoto C. (Science 1993) 3 4 23
  3. Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID). (PMID: 8299233) Yang D.R. … Hirschhorn R. (Clin. Immunol. Immunopathol. 1994) 3 4 23
  4. Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. (PMID: 8589684) Santisteban I. … Hershfield M.S. (Hum. Mol. Genet. 1995) 3 4 23
  5. Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies. (PMID: 11121182) Persico A.M. … Keller F. (Am. J. Med. Genet. 2000) 3 23 49

Products for ADA Gene

  • Addgene plasmids for ADA

Sources for ADA Gene

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