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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]
ADA (Adenosine Deaminase) is a Protein Coding gene. Diseases associated with ADA include Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency and Severe Combined Immunodeficiency. Among its related pathways are Metabolism of nucleotides and C-MYB transcription factor network. Gene Ontology (GO) annotations related to this gene include adenosine deaminase activity and purine nucleoside binding. An important paralog of this gene is ADAL.
Deaminases are enzymes that catalyze the hydrolysis of C-NH2 bonds in amino compounds, producing ammonia. They are usually named after their substrate; two well known members of this group are adenosine deaminase and cytidine deaminase.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001883 | purine nucleoside binding | IEA | -- |
GO:0004000 | adenosine deaminase activity | EXP,ISS | -- |
GO:0005515 | protein binding | IPI | 7594462 |
GO:0008270 | zinc ion binding | IEA,ISS | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005764 | lysosome | IEA,IDA | 8452534 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of nucleotides |
.01
|
|
2 | Metabolism |
.40
|
|
3 | One carbon pool by folate | ||
4 | Primary immunodeficiency | ||
5 | ATP/ITP metabolism |
ATP/ITP metabolism
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IDA | 16670267 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001821 | histamine secretion | IEA | -- |
GO:0001829 | trophectodermal cell differentiation | IEA | -- |
GO:0001889 | liver development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Pentostatin | Approved, Investigational | Pharma | Inhibitor, Inhibition, Target, inhibitor | Irreversible adenosine deaminase inhibitor, Adenosine deaminase inhibitor | 58 | |
Dipyridamole | Approved | Pharma | Inhibitor, Inhibition, Target, inhibitor | Adenosine transport inhibitor | 93 | |
Nelarabine | Approved, Investigational | Pharma | Enzyme, substrate | Prodrug of ara-G for T-LBL/T-ALL | 0 | |
Theophylline | Approved | Pharma | Antagonist, Enzyme, inhibitor, inducer | 75 | ||
Vidarabine | Approved, Investigational | Pharma | Enzyme, substrate | 162 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
deoxyadenosine |
|
958-09-8 |
Compound | Action | Cas Number |
---|---|---|
1-Deazaadenosine | Adenosine deaminase inhibitor | 14432-09-8 |
EHNA hydrochloride | Adenosine deaminase inhibitor | 58337-38-5 |
Pentostatin | Adenosine deaminase inhibitor | 53910-25-1 |
Compound | Action | Cas Number |
---|---|---|
1-Deazaadenosine | 14432-09-8 | |
Cladribine | Apoptosis inducer in CLL cells | 4291-63-8 |
EHNA hydrochloride | 81408-49-3 | |
Pentostatin | Irreversible adenosine deaminase inhibitor | 53910-25-1 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ADA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ADA 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ada 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ADA 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ada 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ADA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ADA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ADA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ada 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ada 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9899 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | C06G3.5 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AAH1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E23167g 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | dea2 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635324 | Likely Pathogenic: Severe combined immunodeficiency due to ADA deficiency | 44,636,278(-) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
636473 | Uncertain Significance: not provided | 44,629,048(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
642970 | Uncertain Significance: Severe combined immunodeficiency due to ADA deficiency | 44,636,265(-) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
646867 | Uncertain Significance: Severe combined immunodeficiency due to ADA deficiency | 44,626,520(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
653773 | Likely Pathogenic: Severe combined immunodeficiency due to ADA deficiency | 44,624,330(-) | CT/C | SPLICE_ACCEPTOR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv24506 | CNV | loss | 19812545 |
esv2668236 | CNV | deletion | 23128226 |
esv3645911 | CNV | loss | 21293372 |
nsv1126597 | CNV | deletion | 24896259 |
nsv3390 | CNV | deletion | 18451855 |
nsv498972 | CNV | loss | 21111241 |
Disorder | Aliases | PubMed IDs |
---|---|---|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency |
|
|
severe combined immunodeficiency |
|
|
omenn syndrome |
|
|
adenosine deaminase deficiency |
|
|
pleural tuberculosis |
|