UniProtKB - P00813 (ADA_HUMAN)
Adenosine deaminase
ADA
Functioni
Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:8452534, PubMed:16670267).
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 (PubMed:20959412).
Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion (PubMed:11772392).
Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity).
Enhances CD4+ T-cell differentiation and proliferation (PubMed:20959412).
Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change (PubMed:23193172).
Stimulates plasminogen activation (PubMed:15016824).
Plays a role in male fertility (PubMed:21919946, PubMed:26166670).
Plays a protective role in early postimplantation embryonic development (By similarity).
By similarity8 PublicationsCatalytic activityi
- EC:3.5.4.43 Publications
Cofactori
Activity regulationi
Kineticsi
- KM=37 µM for adenosine (at 25 degrees Celsius and pH 5.5)1 Publication
- Vmax=41 µmol/min/mg enzyme1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 15 | Zinc; catalytic1 Publication | 1 | |
Metal bindingi | 17 | Zinc; catalytic1 Publication | 1 | |
Binding sitei | 17 | SubstrateCombined sources1 Publication | 1 | |
Binding sitei | 19 | SubstrateCombined sources1 Publication | 1 | |
Sitei | 58 | Important for interaction with adenosine receptors and increasing their affinity for agonists1 Publication | 1 | |
Sitei | 62 | Important for interaction with adenosine receptors and increasing their affinity for agonists1 Publication | 1 | |
Binding sitei | 184 | Substrate; via amide nitrogenCombined sources1 Publication | 1 | |
Metal bindingi | 214 | Zinc; catalytic1 Publication | 1 | |
Active sitei | 217 | Proton donorBy similarity | 1 | |
Sitei | 238 | Important for catalytic activityBy similarity | 1 | |
Metal bindingi | 295 | Zinc; catalytic1 Publication | 1 | |
Binding sitei | 296 | SubstrateCombined sources1 Publication | 1 |
GO - Molecular functioni
- 2'-deoxyadenosine deaminase activity Source: Ensembl
- adenosine deaminase activity Source: UniProtKB
- zinc ion binding Source: UniProtKB
GO - Biological processi
- adenosine catabolic process Source: UniProtKB
- allantoin metabolic process Source: Ensembl
- AMP catabolic process Source: Ensembl
- AMP salvage Source: Ensembl
- cell adhesion Source: UniProtKB-KW
- dAMP catabolic process Source: Ensembl
- dATP catabolic process Source: Ensembl
- deoxyadenosine catabolic process Source: Ensembl
- embryonic digestive tract development Source: Ensembl
- germinal center B cell differentiation Source: Ensembl
- GMP salvage Source: Ensembl
- hypoxanthine salvage Source: GO_Central
- inosine biosynthetic process Source: MGI
- liver development Source: Ensembl
- lung alveolus development Source: Ensembl
- negative regulation of adenosine receptor signaling pathway Source: UniProtKB
- negative regulation of inflammatory response Source: Ensembl
- negative regulation of leukocyte migration Source: Ensembl
- negative regulation of mature B cell apoptotic process Source: Ensembl
- negative regulation of mucus secretion Source: Ensembl
- negative regulation of penile erection Source: Ensembl
- negative regulation of thymocyte apoptotic process Source: Ensembl
- Peyer's patch development Source: Ensembl
- placenta development Source: Ensembl
- positive regulation of alpha-beta T cell differentiation Source: Ensembl
- positive regulation of B cell proliferation Source: Ensembl
- positive regulation of calcium-mediated signaling Source: Ensembl
- positive regulation of germinal center formation Source: Ensembl
- positive regulation of heart rate Source: Ensembl
- positive regulation of smooth muscle contraction Source: Ensembl
- positive regulation of T cell differentiation in thymus Source: Ensembl
- positive regulation of T cell receptor signaling pathway Source: Ensembl
- purine-containing compound salvage Source: Reactome
- purine nucleotide salvage Source: UniProtKB
- regulation of cell-cell adhesion mediated by integrin Source: UniProtKB
- response to hypoxia Source: UniProtKB
- T cell activation Source: UniProtKB
- trophectodermal cell differentiation Source: Ensembl
- xanthine biosynthetic process Source: Ensembl
Keywordsi
Molecular function | Hydrolase |
Biological process | Cell adhesion, Nucleotide metabolism |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 3.5.4.4, 2681 |
PathwayCommonsi | P00813 |
Reactomei | R-HSA-74217, Purine salvage |
SABIO-RKi | P00813 |
SignaLinki | P00813 |
SIGNORi | P00813 |
Names & Taxonomyi
Protein namesi | Recommended name: Adenosine deaminase (EC:3.5.4.43 Publications)Alternative name(s): Adenosine aminohydrolase |
Gene namesi | Name:ADA Synonyms:ADA1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:186, ADA |
MIMi | 608958, gene |
neXtProti | NX_P00813 |
VEuPathDBi | HostDB:ENSG00000196839 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Plasma membrane
- Cell membrane 2 Publications; Peripheral membrane protein ; Extracellular side
Lysosome
- Lysosome 1 Publication
Other locations
- Cell junction 1 Publication
- Cytoplasmic vesicle lumen By similarity
Note: Colocalized with DPP4 at the cell surface.1 Publication
Cytosol
- cytosol Source: HPA
Lysosome
- lysosome Source: UniProtKB
Plasma Membrane
- external side of plasma membrane Source: UniProtKB
- plasma membrane Source: HPA
Other locations
- cell junction Source: UniProtKB-SubCell
- cell surface Source: UniProtKB
- cytoplasmic vesicle lumen Source: UniProtKB-SubCell
- membrane Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Cytoplasmic vesicle, Lysosome, MembranePathology & Biotechi
Involvement in diseasei
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID)11 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002210 | 15 | H → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908725EnsemblClinVar. | 1 | |
Natural variantiVAR_002211 | 20 | G → R in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908724EnsemblClinVar. | 1 | |
Natural variantiVAR_002212 | 74 | G → C in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908730EnsemblClinVar. | 1 | |
Natural variantiVAR_002213 | 76 | R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908736EnsemblClinVar. | 1 | |
Natural variantiVAR_002215 | 83 | A → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908726EnsemblClinVar. | 1 | |
Natural variantiVAR_076954 | 97 | Y → C in ADASCID; unknown pathological significance; loss of activity on its own; total loss of activity; when associated with V-106. 1 PublicationCorresponds to variant dbSNP:rs267606634EnsemblClinVar. | 1 | |
Natural variantiVAR_002216 | 101 | R → L in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908714EnsemblClinVar. | 1 | |
Natural variantiVAR_002218 | 101 | R → Q in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908714EnsemblClinVar. | 1 | |
Natural variantiVAR_002217 | 101 | R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908717EnsemblClinVar. | 1 | |
Natural variantiVAR_076955 | 106 | L → V in ADASCID; unknown pathological significance; 30% of activity; total loss of activity; when associated with C-97. 1 PublicationCorresponds to variant dbSNP:rs267606635EnsemblClinVar. | 1 | |
Natural variantiVAR_002219 | 107 | L → P in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908739EnsemblClinVar. | 1 | |
Natural variantiVAR_002220 | 129 | V → M in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908731EnsemblClinVar. | 1 | |
Natural variantiVAR_002221 | 140 | G → E in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908732EnsemblClinVar. | 1 | |
Natural variantiVAR_002223 | 149 | R → Q in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908737EnsemblClinVar. | 1 | |
Natural variantiVAR_002224 | 149 | R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908733EnsemblClinVar. | 1 | |
Natural variantiVAR_002226 | 156 | R → C in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908735EnsemblClinVar. | 1 | |
Natural variantiVAR_002227 | 156 | R → H in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908722EnsemblClinVar. | 1 | |
Natural variantiVAR_002228 | 177 | V → M in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908719EnsemblClinVar. | 1 | |
Natural variantiVAR_002229 | 179 | A → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908727EnsemblClinVar. | 1 | |
Natural variantiVAR_002230 | 199 | Q → P in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908734EnsemblClinVar. | 1 | |
Natural variantiVAR_002231 | 211 | R → C in ADASCID; late onset; 4% of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908740EnsemblClinVar. | 1 | |
Natural variantiVAR_002232 | 211 | R → H in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908716EnsemblClinVar. | 1 | |
Natural variantiVAR_002233 | 215 | A → T in ADASCID; 8% of activity. 2 PublicationsCorresponds to variant dbSNP:rs114025668EnsemblClinVar. | 1 | |
Natural variantiVAR_002234 | 216 | G → R in ADASCID; severe. 1 PublicationCorresponds to variant dbSNP:rs121908723EnsemblClinVar. | 1 | |
Natural variantiVAR_002236 | 274 | P → L in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908738EnsemblClinVar. | 1 | |
Natural variantiVAR_002237 | 291 | S → L in ADASCID. 2 PublicationsCorresponds to variant dbSNP:rs121908721EnsemblClinVar. | 1 | |
Natural variantiVAR_002238 | 297 | P → Q in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908718EnsemblClinVar. | 1 | |
Natural variantiVAR_002239 | 304 | L → R in ADASCID; loss of activity. Corresponds to variant dbSNP:rs199422327EnsemblClinVar. | 1 | |
Natural variantiVAR_002240 | 329 | A → V in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908715EnsemblClinVar. | 1 | |
Natural variantiVAR_002241 | 337 | Missing in ADASCID. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 58 | L → A: Decreases enzyme activity by reducing substrate affinity and maximum velocity; abolishes ADORA1 and ADORA2A modulator function. 1 Publication | 1 | |
Mutagenesisi | 60 | D → A: Moderately reduces enzyme activity; reduces ADORA1 and ADORA2A modulation. 1 Publication | 1 | |
Mutagenesisi | 61 | F → A: Decreases enzyme activity by reducing maximum velocity; reduces ADORA1 modulation. 1 Publication | 1 | |
Mutagenesisi | 62 | L → A: Decreases enzyme activity by reducing substrate affinity and maximum velocity; abolishes ADORA1 and ADORA2A modulator function. 1 Publication | 1 | |
Mutagenesisi | 64 | K → A: Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication | 1 | |
Mutagenesisi | 65 | F → A: Decreases enzyme activity by reducing substrate affinity and maximum velocity; reduces ADORA1 and ADORA2A modulation. 1 Publication | 1 | |
Mutagenesisi | 66 | D → A: No change in enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication | 1 | |
Mutagenesisi | 69 | M → A: Decreases enzyme activity by reducing maximum velocity; reduces ADORA2A modulation. 1 Publication | 1 | |
Mutagenesisi | 115 | I → A: No change in enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication | 1 | |
Mutagenesisi | 118 | N → A: Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication | 1 | |
Mutagenesisi | 155 | M → A: Decreases enzyme activity by reducing substrate affinity and maximum velocity. 1 Publication | 1 | |
Mutagenesisi | 157 | H → A: Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication | 1 | |
Mutagenesisi | 184 | G → Q: Moderately reduces enzyme activity. 1 Publication | 1 | |
Mutagenesisi | 185 | D → A: Moderately reduces enzyme activity. 1 Publication | 1 | |
Mutagenesisi | 194 | L → A: No change in enzyme activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Hereditary hemolytic anemia, SCIDOrganism-specific databases
DisGeNETi | 100 |
GeneReviewsi | ADA |
MalaCardsi | ADA |
MIMi | 102700, phenotype |
OpenTargetsi | ENSG00000196839 |
Orphaneti | 39041, Omenn syndrome 277, Severe combined immunodeficiency due to adenosine deaminase deficiency |
PharmGKBi | PA24503 |
Miscellaneous databases
Pharosi | P00813, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1910 |
DrugBanki | DB07711, (2S,3R)-3-(6-amino-9H-purin-9-yl)nonan-2-ol DB07783, 1-((1R)-1-(HYDROXYMETHYL)-3-{6-[(3-PHENYLPROPANOYL)AMINO]-1H-INDOL-1-YL}PROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE DB07786, 1-((1R,2S)-1-{2-[2-(4-CHLOROPHENYL)-1,3-BENZOXAZOL-7-YL]ETHYL}-2-HYDROXYPROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE DB04218, 1-Deaza-Adenosine DB07785, 1-{(1R,2S)-2-HYDROXY-1-[2-(2-NAPHTHYLOXY)ETHYL]PROPYL}-1H-IMIDAZONE-4-CARBOXAMIDE DB03015, 6-hydroxy-1,6-dihydro purine nucleoside DB02472, 7,8-dihydroinosine DB00640, Adenosine DB00975, Dipyridamole DB14598, Edetate calcium disodium anhydrous DB14600, Edetate disodium anhydrous DB00974, Edetic acid DB05057, Erdosteine DB03220, FR-234938 DB02616, FR117016 DB02096, FR221647 DB03572, FR230513 DB02830, FR236913 DB03370, FR239087 DB04440, Nebularine DB01280, Nelarabine DB00552, Pentostatin DB00277, Theophylline DB00194, Vidarabine |
DrugCentrali | P00813 |
GuidetoPHARMACOLOGYi | 1230 |
Genetic variation databases
BioMutai | ADA |
DMDMi | 113339 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000194352 | 2 – 363 | Adenosine deaminaseAdd BLAST | 362 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanine1 Publication | 1 | |
Modified residuei | 54 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 232 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | P00813 |
jPOSTi | P00813 |
MassIVEi | P00813 |
MaxQBi | P00813 |
PaxDbi | P00813 |
PeptideAtlasi | P00813 |
PRIDEi | P00813 |
ProteomicsDBi | 51289 |
TopDownProteomicsi | P00813 |
PTM databases
GlyGeni | P00813, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P00813 |
MetOSitei | P00813 |
PhosphoSitePlusi | P00813 |
SwissPalmi | P00813 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000196839, Expressed in duodenum and 176 other tissues |
ExpressionAtlasi | P00813, baseline and differential |
Genevisiblei | P00813, HS |
Organism-specific databases
HPAi | ENSG00000196839, Group enriched (intestine, lymphoid tissue) |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 106614, 39 interactors |
CORUMi | P00813 |
DIPi | DIP-371N |
IntActi | P00813, 7 interactors |
STRINGi | 9606.ENSP00000361965 |
Chemistry databases
BindingDBi | P00813 |
Miscellaneous databases
RNActi | P00813, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P00813 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P00813 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 126 – 143 | Required for binding to DDP41 PublicationAdd BLAST | 18 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1097, Eukaryota |
GeneTreei | ENSGT00950000183113 |
InParanoidi | P00813 |
OMAi | NHFTIHA |
OrthoDBi | 1045809at2759 |
PhylomeDBi | P00813 |
TreeFami | TF314270 |
Family and domain databases
CDDi | cd01320, ADA, 1 hit |
HAMAPi | MF_00540, A_deaminase, 1 hit |
InterProi | View protein in InterPro IPR006650, A/AMP_deam_AS IPR028893, A_deaminase IPR001365, A_deaminase_dom IPR006330, Ado/ade_deaminase IPR032466, Metal_Hydrolase |
PANTHERi | PTHR11409, PTHR11409, 1 hit |
Pfami | View protein in Pfam PF00962, A_deaminase, 1 hit |
SUPFAMi | SSF51556, SSF51556, 1 hit |
TIGRFAMsi | TIGR01430, aden_deam, 1 hit |
PROSITEi | View protein in PROSITE PS00485, A_DEAMINASE, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MAQTPAFDKP KVELHVHLDG SIKPETILYY GRRRGIALPA NTAEGLLNVI
60 70 80 90 100
GMDKPLTLPD FLAKFDYYMP AIAGCREAIK RIAYEFVEMK AKEGVVYVEV
110 120 130 140 150
RYSPHLLANS KVEPIPWNQA EGDLTPDEVV ALVGQGLQEG ERDFGVKARS
160 170 180 190 200
ILCCMRHQPN WSPKVVELCK KYQQQTVVAI DLAGDETIPG SSLLPGHVQA
210 220 230 240 250
YQEAVKSGIH RTVHAGEVGS AEVVKEAVDI LKTERLGHGY HTLEDQALYN
260 270 280 290 300
RLRQENMHFE ICPWSSYLTG AWKPDTEHAV IRLKNDQANY SLNTDDPLIF
310 320 330 340 350
KSTLDTDYQM TKRDMGFTEE EFKRLNINAA KSSFLPEDEK RELLDLLYKA
360
YGMPPSASAG QNL
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5GWI4 | F5GWI4_HUMAN | Adenosine deaminase | ADA | 339 | Annotation score: | ||
F5GXW0 | F5GXW0_HUMAN | Adenosine deaminase | ADA | 263 | Annotation score: | ||
F5GYD4 | F5GYD4_HUMAN | Adenosine deaminase | ADA | 75 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 340 | K → R in BAD97117 (Ref. 5) Curated | 1 |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002209 | 8 | D → N Allele ADA*2; found in about 10% of the population; affects duration and intensity of deep sleep; enhances negative effects of sleep loss during sleep deprivation; may have a protective role against male infertility; 20% to 30% decrease in activity. 4 PublicationsCorresponds to variant dbSNP:rs73598374EnsemblClinVar. | 1 | |
Natural variantiVAR_002210 | 15 | H → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908725EnsemblClinVar. | 1 | |
Natural variantiVAR_002211 | 20 | G → R in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908724EnsemblClinVar. | 1 | |
Natural variantiVAR_002212 | 74 | G → C in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908730EnsemblClinVar. | 1 | |
Natural variantiVAR_002213 | 76 | R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908736EnsemblClinVar. | 1 | |
Natural variantiVAR_002214 | 80 | K → R1 PublicationCorresponds to variant dbSNP:rs11555566EnsemblClinVar. | 1 | |
Natural variantiVAR_002215 | 83 | A → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908726EnsemblClinVar. | 1 | |
Natural variantiVAR_076954 | 97 | Y → C in ADASCID; unknown pathological significance; loss of activity on its own; total loss of activity; when associated with V-106. 1 PublicationCorresponds to variant dbSNP:rs267606634EnsemblClinVar. | 1 | |
Natural variantiVAR_002216 | 101 | R → L in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908714EnsemblClinVar. | 1 | |
Natural variantiVAR_002218 | 101 | R → Q in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908714EnsemblClinVar. | 1 | |
Natural variantiVAR_002217 | 101 | R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908717EnsemblClinVar. | 1 | |
Natural variantiVAR_076955 | 106 | L → V in ADASCID; unknown pathological significance; 30% of activity; total loss of activity; when associated with C-97. 1 PublicationCorresponds to variant dbSNP:rs267606635EnsemblClinVar. | 1 | |
Natural variantiVAR_002219 | 107 | L → P in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908739EnsemblClinVar. | 1 | |
Natural variantiVAR_002220 | 129 | V → M in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908731EnsemblClinVar. | 1 | |
Natural variantiVAR_002221 | 140 | G → E in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908732EnsemblClinVar. | 1 | |
Natural variantiVAR_002222 | 142 | R → Q in a pancreatic ductal adenocarcinoma sample; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs61732239EnsemblClinVar. | 1 | |
Natural variantiVAR_002223 | 149 | R → Q in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908737EnsemblClinVar. | 1 | |
Natural variantiVAR_002224 | 149 | R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908733EnsemblClinVar. | 1 | |
Natural variantiVAR_002225 | 152 | L → M in an individual with partial ADA deficiency but no immunodeficiency; 1,5% of activity. 1 PublicationCorresponds to variant dbSNP:rs121908728EnsemblClinVar. | 1 | |
Natural variantiVAR_002226 | 156 | R → C in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908735EnsemblClinVar. | 1 | |
Natural variantiVAR_002227 | 156 | R → H in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908722EnsemblClinVar. | 1 | |
Natural variantiVAR_002228 | 177 | V → M in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908719EnsemblClinVar. | 1 | |
Natural variantiVAR_002229 | 179 | A → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908727EnsemblClinVar. | 1 | |
Natural variantiVAR_002230 | 199 | Q → P in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908734EnsemblClinVar. | 1 | |
Natural variantiVAR_002231 | 211 | R → C in ADASCID; late onset; 4% of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908740EnsemblClinVar. | 1 | |
Natural variantiVAR_002232 | 211 | R → H in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908716EnsemblClinVar. | 1 | |
Natural variantiVAR_002233 | 215 | A → T in ADASCID; 8% of activity. 2 PublicationsCorresponds to variant dbSNP:rs114025668EnsemblClinVar. | 1 | |
Natural variantiVAR_002234 | 216 | G → R in ADASCID; severe. 1 PublicationCorresponds to variant dbSNP:rs121908723EnsemblClinVar. | 1 | |
Natural variantiVAR_002235 | 233 | T → I in an individual with partial ADA deficiency but no immunodeficiency; 20% of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908729EnsemblClinVar. | 1 | |
Natural variantiVAR_002236 | 274 | P → L in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908738EnsemblClinVar. | 1 | |
Natural variantiVAR_002237 | 291 | S → L in ADASCID. 2 PublicationsCorresponds to variant dbSNP:rs121908721EnsemblClinVar. | 1 | |
Natural variantiVAR_002238 | 297 | P → Q in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908718EnsemblClinVar. | 1 | |
Natural variantiVAR_002239 | 304 | L → R in ADASCID; loss of activity. Corresponds to variant dbSNP:rs199422327EnsemblClinVar. | 1 | |
Natural variantiVAR_002240 | 329 | A → V in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908715EnsemblClinVar. | 1 | |
Natural variantiVAR_002241 | 337 | Missing in ADASCID. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X02994 mRNA Translation: CAA26734.1 X02189 , X02190, X02191, X02192, X02193, X02194, X02195, X02196, X02197, X02198, X02199 Genomic DNA Translation: CAA26130.1 Sequence problems. M13792 Genomic DNA Translation: AAA78791.1 AL139352 Genomic DNA No translation available. Z97053 Genomic DNA No translation available. AK223397 mRNA Translation: BAD97117.1 BC007678 mRNA Translation: AAH07678.1 BC040226 mRNA Translation: AAH40226.1 |
CCDSi | CCDS13335.1 |
PIRi | A91032, DUHUA |
RefSeqi | NP_000013.2, NM_000022.3 |
Genome annotation databases
Ensembli | ENST00000372874; ENSP00000361965; ENSG00000196839 |
GeneIDi | 100 |
KEGGi | hsa:100 |
MANE-Selecti | ENST00000372874.9; ENSP00000361965.4; NM_000022.4; NP_000013.2 |
UCSCi | uc002xmj.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
ADAbase ADA mutation db |
Wikipedia Adenosine deaminase entry |
Mendelian genes adenosine deaminase (ADA) Leiden Open Variation Database (LOVD) |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X02994 mRNA Translation: CAA26734.1 X02189 , X02190, X02191, X02192, X02193, X02194, X02195, X02196, X02197, X02198, X02199 Genomic DNA Translation: CAA26130.1 Sequence problems. M13792 Genomic DNA Translation: AAA78791.1 AL139352 Genomic DNA No translation available. Z97053 Genomic DNA No translation available. AK223397 mRNA Translation: BAD97117.1 BC007678 mRNA Translation: AAH07678.1 BC040226 mRNA Translation: AAH40226.1 |
CCDSi | CCDS13335.1 |
PIRi | A91032, DUHUA |
RefSeqi | NP_000013.2, NM_000022.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3IAR | X-ray | 1.52 | A | 5-363 | [»] | |
SMRi | P00813 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 106614, 39 interactors |
CORUMi | P00813 |
DIPi | DIP-371N |
IntActi | P00813, 7 interactors |
STRINGi | 9606.ENSP00000361965 |
Chemistry databases
BindingDBi | P00813 |
ChEMBLi | CHEMBL1910 |
DrugBanki | DB07711, (2S,3R)-3-(6-amino-9H-purin-9-yl)nonan-2-ol DB07783, 1-((1R)-1-(HYDROXYMETHYL)-3-{6-[(3-PHENYLPROPANOYL)AMINO]-1H-INDOL-1-YL}PROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE DB07786, 1-((1R,2S)-1-{2-[2-(4-CHLOROPHENYL)-1,3-BENZOXAZOL-7-YL]ETHYL}-2-HYDROXYPROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE DB04218, 1-Deaza-Adenosine DB07785, 1-{(1R,2S)-2-HYDROXY-1-[2-(2-NAPHTHYLOXY)ETHYL]PROPYL}-1H-IMIDAZONE-4-CARBOXAMIDE DB03015, 6-hydroxy-1,6-dihydro purine nucleoside DB02472, 7,8-dihydroinosine DB00640, Adenosine DB00975, Dipyridamole DB14598, Edetate calcium disodium anhydrous DB14600, Edetate disodium anhydrous DB00974, Edetic acid DB05057, Erdosteine DB03220, FR-234938 DB02616, FR117016 DB02096, FR221647 DB03572, FR230513 DB02830, FR236913 DB03370, FR239087 DB04440, Nebularine DB01280, Nelarabine DB00552, Pentostatin DB00277, Theophylline DB00194, Vidarabine |
DrugCentrali | P00813 |
GuidetoPHARMACOLOGYi | 1230 |
PTM databases
GlyGeni | P00813, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P00813 |
MetOSitei | P00813 |
PhosphoSitePlusi | P00813 |
SwissPalmi | P00813 |
Genetic variation databases
BioMutai | ADA |
DMDMi | 113339 |
Proteomic databases
EPDi | P00813 |
jPOSTi | P00813 |
MassIVEi | P00813 |
MaxQBi | P00813 |
PaxDbi | P00813 |
PeptideAtlasi | P00813 |
PRIDEi | P00813 |
ProteomicsDBi | 51289 |
TopDownProteomicsi | P00813 |
Protocols and materials databases
Antibodypediai | 700, 499 antibodies from 43 providers |
CPTCi | P00813, 1 antibody |
DNASUi | 100 |
Genome annotation databases
Ensembli | ENST00000372874; ENSP00000361965; ENSG00000196839 |
GeneIDi | 100 |
KEGGi | hsa:100 |
MANE-Selecti | ENST00000372874.9; ENSP00000361965.4; NM_000022.4; NP_000013.2 |
UCSCi | uc002xmj.4, human |
Organism-specific databases
CTDi | 100 |
DisGeNETi | 100 |
GeneCardsi | ADA |
GeneReviewsi | ADA |
HGNCi | HGNC:186, ADA |
HPAi | ENSG00000196839, Group enriched (intestine, lymphoid tissue) |
MalaCardsi | ADA |
MIMi | 102700, phenotype 608958, gene |
neXtProti | NX_P00813 |
OpenTargetsi | ENSG00000196839 |
Orphaneti | 39041, Omenn syndrome 277, Severe combined immunodeficiency due to adenosine deaminase deficiency |
PharmGKBi | PA24503 |
VEuPathDBi | HostDB:ENSG00000196839 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1097, Eukaryota |
GeneTreei | ENSGT00950000183113 |
InParanoidi | P00813 |
OMAi | NHFTIHA |
OrthoDBi | 1045809at2759 |
PhylomeDBi | P00813 |
TreeFami | TF314270 |
Enzyme and pathway databases
BRENDAi | 3.5.4.4, 2681 |
PathwayCommonsi | P00813 |
Reactomei | R-HSA-74217, Purine salvage |
SABIO-RKi | P00813 |
SignaLinki | P00813 |
SIGNORi | P00813 |
Miscellaneous databases
BioGRID-ORCSi | 100, 10 hits in 1046 CRISPR screens |
ChiTaRSi | ADA, human |
EvolutionaryTracei | P00813 |
GeneWikii | Adenosine_deaminase |
GenomeRNAii | 100 |
Pharosi | P00813, Tclin |
PROi | PR:P00813 |
RNActi | P00813, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196839, Expressed in duodenum and 176 other tissues |
ExpressionAtlasi | P00813, baseline and differential |
Genevisiblei | P00813, HS |
Family and domain databases
CDDi | cd01320, ADA, 1 hit |
HAMAPi | MF_00540, A_deaminase, 1 hit |
InterProi | View protein in InterPro IPR006650, A/AMP_deam_AS IPR028893, A_deaminase IPR001365, A_deaminase_dom IPR006330, Ado/ade_deaminase IPR032466, Metal_Hydrolase |
PANTHERi | PTHR11409, PTHR11409, 1 hit |
Pfami | View protein in Pfam PF00962, A_deaminase, 1 hit |
SUPFAMi | SSF51556, SSF51556, 1 hit |
TIGRFAMsi | TIGR01430, aden_deam, 1 hit |
PROSITEi | View protein in PROSITE PS00485, A_DEAMINASE, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ADA_HUMAN | |
Accessioni | P00813Primary (citable) accession number: P00813 Secondary accession number(s): Q53F92, Q6LA59 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 23, 2022 | |
This is version 236 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families