Entity Details

Primary name ADA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP00813
EntryNameADA_HUMAN
FullNameAdenosine deaminase
TaxID9606
Evidenceevidence at protein level
Length363
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesADA

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0001821 histamine secretion
GO:0001829 trophectodermal cell differentiation
GO:0001883 purine nucleoside binding
GO:0001889 liver development
GO:0001890 placenta development
GO:0002314 germinal center B cell differentiation
GO:0002636 positive regulation of germinal center formation
GO:0002686 negative regulation of leukocyte migration
GO:0002906 negative regulation of mature B cell apoptotic process
GO:0004000 adenosine deaminase activity
GO:0005615 extracellular space
GO:0005764 lysosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006154 adenosine catabolic process
GO:0006157 deoxyadenosine catabolic process
GO:0006196 AMP catabolic process
GO:0007155 cell adhesion
GO:0007568 aging
GO:0008270 zinc ion binding
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0010460 positive regulation of heart rate
GO:0016020 membrane
GO:0030054 cell junction
GO:0030890 positive regulation of B cell proliferation
GO:0032261 purine nucleotide salvage
GO:0032839 dendrite cytoplasm
GO:0033089 positive regulation of T cell differentiation in thymus
GO:0033197 response to vitamin E
GO:0033632 regulation of cell-cell adhesion mediated by integrin
GO:0042110 T cell activation
GO:0042323 negative regulation of circadian sleep/wake cycle, non-REM sleep
GO:0042493 response to drug
GO:0042542 response to hydrogen peroxide
GO:0043025 neuronal cell body
GO:0043101 purine-containing compound salvage
GO:0043103 hypoxanthine salvage
GO:0043278 response to morphine
GO:0045987 positive regulation of smooth muscle contraction
GO:0046059 dAMP catabolic process
GO:0046061 dATP catabolic process
GO:0046103 inosine biosynthetic process
GO:0046111 xanthine biosynthetic process
GO:0046638 positive regulation of alpha-beta T cell differentiation
GO:0048286 lung alveolus development
GO:0048541 Peyer's patch development
GO:0048566 embryonic digestive tract development
GO:0050728 negative regulation of inflammatory response
GO:0050850 positive regulation of calcium-mediated signaling
GO:0050862 positive regulation of T cell receptor signaling pathway
GO:0060169 negative regulation of adenosine receptor signaling pathway
GO:0060205 cytoplasmic vesicle lumen
GO:0060407 negative regulation of penile erection
GO:0070244 negative regulation of thymocyte apoptotic process
GO:0070256 negative regulation of mucus secretion

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cytoplasm
Cytoplasmic vesicle lumen
Lysosome

Domains

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DomainNameCategoryType
IPR001365 Adenosine/AMP deaminase domainDomainDomain
IPR006330 Adenosine/adenine deaminaseFamilyFamily
IPR006650 Adenosine/AMP deaminase active siteSiteActive site
IPR028893 Adenosine deaminaseFamilyFamily
IPR032466 Metal-dependent hydrolaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
102700 OMIMSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00194 VidarabineDrugbanksmall molecule
DB00277 TheophyllineDrugbanksmall molecule
DB00552 PentostatinDrugbanksmall molecule
DB00640 AdenosineDrugbanksmall molecule
DB00974 Edetic acidSwissprotsmall molecule
DB00975 DipyridamoleDrugbanksmall molecule
DB01280 NelarabineDrugbanksmall molecule
DB02096 FR221647Drugbanksmall molecule
DB02472 7,8-dihydroinosineDrugbanksmall molecule
DB02616 FR117016Drugbanksmall molecule
DB02830 FR236913Drugbanksmall molecule
DB03015 6-hydroxy-1,6-dihydro purine nucleosideDrugbanksmall molecule
DB03220 FR-234938Drugbanksmall molecule
DB03370 FR239087Drugbanksmall molecule
DB03572 FR230513Drugbanksmall molecule
DB04218 1-Deaza-AdenosineDrugbanksmall molecule
DB04440 NebularineDrugbanksmall molecule
DB05057 ErdosteineSwissprotsmall molecule
DB07711 (2S,3R)-3-(6-amino-9H-purin-9-yl)nonan-2-olDrugbanksmall molecule
DB07783 1-((1R)-1-(HYDROXYMETHYL)-3-{6-[(3-PHENYLPROPANOYL)AMINO]-1H-INDOL-1-YL}PROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDEDrugbanksmall molecule
DB07785 1-{(1R,2S)-2-HYDROXY-1-[2-(2-NAPHTHYLOXY)ETHYL]PROPYL}-1H-IMIDAZONE-4-CARBOXAMIDEDrugbanksmall molecule
DB07786 1-((1R,2S)-1-{2-[2-(4-CHLOROPHENYL)-1,3-BENZOXAZOL-7-YL]ETHYL}-2-HYDROXYPROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDEDrugbanksmall molecule
DB14598 Edetate calcium disodium anhydrousSwissprotsmall molecule
DB14600 Edetate disodium anhydrousSwissprotsmall molecule