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P00813

- ADA_HUMAN

UniProt

P00813 - ADA_HUMAN

Protein

Adenosine deaminase

Gene

ADA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 180 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    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.1 Publication

    Catalytic activityi

    Adenosine + H2O = inosine + NH3.

    Cofactori

    Binds 1 zinc ion per subunit.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi15 – 151Zinc; catalytic
    Metal bindingi17 – 171Zinc; catalytic
    Binding sitei17 – 171Substrate
    Binding sitei19 – 191Substrate
    Binding sitei184 – 1841Substrate; via amide nitrogen
    Metal bindingi214 – 2141Zinc; catalytic
    Active sitei217 – 2171Proton donorCurated
    Sitei238 – 2381Important for catalytic activityBy similarity
    Metal bindingi295 – 2951Zinc; catalytic
    Binding sitei296 – 2961Substrate

    GO - Molecular functioni

    1. adenosine deaminase activity Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. purine nucleoside binding Source: Ensembl
    4. zinc ion binding Source: UniProtKB

    GO - Biological processi

    1. adenosine catabolic process Source: UniProtKB
    2. aging Source: Ensembl
    3. cell adhesion Source: UniProtKB-KW
    4. dATP catabolic process Source: Ensembl
    5. deoxyadenosine catabolic process Source: Ensembl
    6. embryonic digestive tract development Source: Ensembl
    7. germinal center B cell differentiation Source: Ensembl
    8. histamine secretion Source: Ensembl
    9. hypoxanthine salvage Source: RefGenome
    10. inosine biosynthetic process Source: UniProtKB
    11. liver development Source: Ensembl
    12. lung alveolus development Source: Ensembl
    13. negative regulation of adenosine receptor signaling pathway Source: UniProtKB
    14. negative regulation of circadian sleep/wake cycle, non-REM sleep Source: Ensembl
    15. negative regulation of inflammatory response Source: Ensembl
    16. negative regulation of leukocyte migration Source: Ensembl
    17. negative regulation of mature B cell apoptotic process Source: Ensembl
    18. negative regulation of mucus secretion Source: Ensembl
    19. negative regulation of penile erection Source: Ensembl
    20. negative regulation of thymocyte apoptotic process Source: Ensembl
    21. nucleobase-containing small molecule metabolic process Source: Reactome
    22. Peyer's patch development Source: Ensembl
    23. placenta development Source: Ensembl
    24. positive regulation of alpha-beta T cell differentiation Source: Ensembl
    25. positive regulation of B cell proliferation Source: Ensembl
    26. positive regulation of calcium-mediated signaling Source: Ensembl
    27. positive regulation of germinal center formation Source: Ensembl
    28. positive regulation of heart rate Source: Ensembl
    29. positive regulation of smooth muscle contraction Source: Ensembl
    30. positive regulation of T cell differentiation in thymus Source: Ensembl
    31. positive regulation of T cell receptor signaling pathway Source: Ensembl
    32. purine-containing compound salvage Source: Reactome
    33. purine nucleobase metabolic process Source: Reactome
    34. purine nucleotide salvage Source: UniProtKB
    35. purine ribonucleoside monophosphate biosynthetic process Source: InterPro
    36. regulation of cell-cell adhesion mediated by integrin Source: UniProtKB
    37. response to drug Source: Ensembl
    38. response to hydrogen peroxide Source: Ensembl
    39. response to hypoxia Source: UniProtKB
    40. response to morphine Source: Ensembl
    41. response to vitamin E Source: Ensembl
    42. small molecule metabolic process Source: Reactome
    43. T cell activation Source: UniProtKB
    44. trophectodermal cell differentiation Source: Ensembl
    45. xanthine biosynthetic process Source: Ensembl

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Cell adhesion, Nucleotide metabolism

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    BioCyciMetaCyc:HS02191-MONOMER.
    ReactomeiREACT_1923. Purine salvage.
    SABIO-RKP00813.
    SignaLinkiP00813.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Adenosine deaminase (EC:3.5.4.4)
    Alternative name(s):
    Adenosine aminohydrolase
    Gene namesi
    Name:ADA
    Synonyms:ADA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:186. ADA.

    Subcellular locationi

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

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-SubCell
    2. cell surface Source: UniProtKB
    3. cytoplasm Source: HPA
    4. cytoplasmic membrane-bounded vesicle lumen Source: UniProtKB-SubCell
    5. cytosol Source: Reactome
    6. dendrite cytoplasm Source: Ensembl
    7. external side of plasma membrane Source: UniProtKB
    8. extracellular space Source: Ensembl
    9. lysosome Source: UniProtKB
    10. membrane Source: UniProtKB
    11. neuronal cell body Source: Ensembl
    12. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasm, Cytoplasmic vesicle, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151H → D in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908725 [ dbSNP | Ensembl ].
    VAR_002210
    Natural varianti20 – 201G → R in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908724 [ dbSNP | Ensembl ].
    VAR_002211
    Natural varianti74 – 741G → C in ADASCID; delayed-onset. 1 Publication
    Corresponds to variant rs121908730 [ dbSNP | Ensembl ].
    VAR_002212
    Natural varianti76 – 761R → W in ADASCID. 1 Publication
    Corresponds to variant rs121908736 [ dbSNP | Ensembl ].
    VAR_002213
    Natural varianti83 – 831A → D in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908726 [ dbSNP | Ensembl ].
    VAR_002215
    Natural varianti101 – 1011R → L in ADASCID. 1 Publication
    Corresponds to variant rs121908720 [ dbSNP | Ensembl ].
    VAR_002216
    Natural varianti101 – 1011R → Q in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs28930970 [ dbSNP | Ensembl ].
    VAR_002218
    Natural varianti101 – 1011R → W in ADASCID. 1 Publication
    Corresponds to variant rs28930969 [ dbSNP | Ensembl ].
    VAR_002217
    Natural varianti107 – 1071L → P in ADASCID. 1 Publication
    Corresponds to variant rs121908739 [ dbSNP | Ensembl ].
    VAR_002219
    Natural varianti129 – 1291V → M in ADASCID; delayed-onset. 1 Publication
    Corresponds to variant rs121908731 [ dbSNP | Ensembl ].
    VAR_002220
    Natural varianti140 – 1401G → E in ADASCID. 1 Publication
    Corresponds to variant rs121908732 [ dbSNP | Ensembl ].
    VAR_002221
    Natural varianti149 – 1491R → Q in ADASCID. 1 Publication
    Corresponds to variant rs121908737 [ dbSNP | Ensembl ].
    VAR_002223
    Natural varianti149 – 1491R → W in ADASCID. 1 Publication
    Corresponds to variant rs121908733 [ dbSNP | Ensembl ].
    VAR_002224
    Natural varianti156 – 1561R → C in ADASCID. 1 Publication
    Corresponds to variant rs121908735 [ dbSNP | Ensembl ].
    VAR_002226
    Natural varianti156 – 1561R → H in ADASCID. 1 Publication
    Corresponds to variant rs121908722 [ dbSNP | Ensembl ].
    VAR_002227
    Natural varianti177 – 1771V → M in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908719 [ dbSNP | Ensembl ].
    VAR_002228
    Natural varianti179 – 1791A → D in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908727 [ dbSNP | Ensembl ].
    VAR_002229
    Natural varianti199 – 1991Q → P in ADASCID; delayed-onset. 1 Publication
    Corresponds to variant rs121908734 [ dbSNP | Ensembl ].
    VAR_002230
    Natural varianti211 – 2111R → C in ADASCID; late onset. 1 Publication
    Corresponds to variant rs121908740 [ dbSNP | Ensembl ].
    VAR_002231
    Natural varianti211 – 2111R → H in ADASCID. 1 Publication
    Corresponds to variant rs121908716 [ dbSNP | Ensembl ].
    VAR_002232
    Natural varianti215 – 2151A → T in ADASCID. 1 Publication
    Corresponds to variant rs114025668 [ dbSNP | Ensembl ].
    VAR_002233
    Natural varianti216 – 2161G → R in ADASCID; severe. 1 Publication
    Corresponds to variant rs121908723 [ dbSNP | Ensembl ].
    VAR_002234
    Natural varianti274 – 2741P → L in ADASCID. 1 Publication
    Corresponds to variant rs121908738 [ dbSNP | Ensembl ].
    VAR_002236
    Natural varianti291 – 2911S → L in ADASCID. 2 Publications
    Corresponds to variant rs121908721 [ dbSNP | Ensembl ].
    VAR_002237
    Natural varianti297 – 2971P → Q in ADASCID. 1 Publication
    Corresponds to variant rs121908718 [ dbSNP | Ensembl ].
    VAR_002238
    Natural varianti304 – 3041L → R in ADASCID; loss of activity.
    VAR_002239
    Natural varianti329 – 3291A → V in ADASCID. 1 Publication
    Corresponds to variant rs121908715 [ dbSNP | Ensembl ].
    VAR_002240
    Natural varianti337 – 3371Missing in ADASCID.
    VAR_002241

    Keywords - Diseasei

    Disease mutation, Hereditary hemolytic anemia, SCID

    Organism-specific databases

    MIMi102700. phenotype.
    Orphaneti39041. Omenn syndrome.
    277. Severe combined immunodeficiency due to adenosine deaminase deficiency.
    PharmGKBiPA24503.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 363362Adenosine deaminasePRO_0000194352Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei54 – 541N6-acetyllysine1 Publication
    Modified residuei232 – 2321N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP00813.
    PaxDbiP00813.
    PeptideAtlasiP00813.
    PRIDEiP00813.

    PTM databases

    PhosphoSiteiP00813.

    Expressioni

    Tissue specificityi

    Found in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues.

    Gene expression databases

    ArrayExpressiP00813.
    BgeeiP00813.
    CleanExiHS_ADA.
    GenevestigatoriP00813.

    Organism-specific databases

    HPAiCAB004307.
    HPA001399.
    HPA023884.

    Interactioni

    Subunit structurei

    Interacts with DPP4 (extracellular domain).5 Publications

    Protein-protein interaction databases

    BioGridi106614. 9 interactions.
    DIPiDIP-371N.
    IntActiP00813. 2 interactions.
    MINTiMINT-5000852.
    STRINGi9606.ENSP00000361965.

    Structurei

    Secondary structure

    1
    363
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi11 – 133
    Helixi18 – 203
    Helixi24 – 3411
    Helixi43 – 508
    Helixi58 – 625
    Helixi63 – 675
    Helixi69 – 724
    Helixi76 – 9116
    Turni92 – 943
    Beta strandi95 – 1028
    Helixi104 – 1074
    Beta strandi109 – 1113
    Helixi116 – 1183
    Helixi126 – 14419
    Beta strandi147 – 1559
    Helixi159 – 1613
    Helixi162 – 17110
    Turni172 – 1765
    Beta strandi177 – 1848
    Helixi191 – 1933
    Helixi195 – 20713
    Beta strandi210 – 21910
    Helixi221 – 2299
    Beta strandi234 – 2385
    Helixi240 – 2445
    Helixi246 – 2549
    Beta strandi258 – 2614
    Helixi263 – 2686
    Beta strandi270 – 2723
    Helixi279 – 2857
    Beta strandi290 – 2923
    Helixi297 – 3004
    Helixi304 – 31512
    Helixi319 – 33113
    Beta strandi333 – 3353
    Helixi337 – 35115
    Helixi355 – 3628

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1M7Mmodel-A1-363[»]
    3IARX-ray1.52A5-363[»]
    ProteinModelPortaliP00813.
    SMRiP00813. Positions 5-363.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP00813.

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1816.
    HOGENOMiHOG000218816.
    HOVERGENiHBG001718.
    InParanoidiP00813.
    KOiK01488.
    OMAiELHCHLF.
    OrthoDBiEOG7GN2MZ.
    PhylomeDBiP00813.
    TreeFamiTF314270.

    Family and domain databases

    HAMAPiMF_00540. A_deaminase.
    InterProiIPR006650. A/AMP_deam_AS.
    IPR001365. A/AMP_deaminase_dom.
    IPR028893. A_deaminase.
    IPR006330. Ado/ade_deaminase.
    [Graphical view]
    PfamiPF00962. A_deaminase. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR01430. aden_deam. 1 hit.
    PROSITEiPS00485. A_DEAMINASE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P00813-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAQTPAFDKP KVELHVHLDG SIKPETILYY GRRRGIALPA NTAEGLLNVI    50
    GMDKPLTLPD FLAKFDYYMP AIAGCREAIK RIAYEFVEMK AKEGVVYVEV 100
    RYSPHLLANS KVEPIPWNQA EGDLTPDEVV ALVGQGLQEG ERDFGVKARS 150
    ILCCMRHQPN WSPKVVELCK KYQQQTVVAI DLAGDETIPG SSLLPGHVQA 200
    YQEAVKSGIH RTVHAGEVGS AEVVKEAVDI LKTERLGHGY HTLEDQALYN 250
    RLRQENMHFE ICPWSSYLTG AWKPDTEHAV IRLKNDQANY SLNTDDPLIF 300
    KSTLDTDYQM TKRDMGFTEE EFKRLNINAA KSSFLPEDEK RELLDLLYKA 350
    YGMPPSASAG QNL 363
    Length:363
    Mass (Da):40,764
    Last modified:January 23, 2007 - v3
    Checksum:i786BC5085CA9AFCB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti340 – 3401K → R in BAD97117. 1 PublicationCurated

    Polymorphismi

    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81D → N in allele ADA*2; in about 10% of the population; 20% to 30% decrease in activity; affects duration and intensity of deep sleep. 1 Publication
    Corresponds to variant rs73598374 [ dbSNP | Ensembl ].
    VAR_002209
    Natural varianti15 – 151H → D in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908725 [ dbSNP | Ensembl ].
    VAR_002210
    Natural varianti20 – 201G → R in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908724 [ dbSNP | Ensembl ].
    VAR_002211
    Natural varianti74 – 741G → C in ADASCID; delayed-onset. 1 Publication
    Corresponds to variant rs121908730 [ dbSNP | Ensembl ].
    VAR_002212
    Natural varianti76 – 761R → W in ADASCID. 1 Publication
    Corresponds to variant rs121908736 [ dbSNP | Ensembl ].
    VAR_002213
    Natural varianti80 – 801K → R.1 Publication
    Corresponds to variant rs11555566 [ dbSNP | Ensembl ].
    VAR_002214
    Natural varianti83 – 831A → D in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908726 [ dbSNP | Ensembl ].
    VAR_002215
    Natural varianti101 – 1011R → L in ADASCID. 1 Publication
    Corresponds to variant rs121908720 [ dbSNP | Ensembl ].
    VAR_002216
    Natural varianti101 – 1011R → Q in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs28930970 [ dbSNP | Ensembl ].
    VAR_002218
    Natural varianti101 – 1011R → W in ADASCID. 1 Publication
    Corresponds to variant rs28930969 [ dbSNP | Ensembl ].
    VAR_002217
    Natural varianti107 – 1071L → P in ADASCID. 1 Publication
    Corresponds to variant rs121908739 [ dbSNP | Ensembl ].
    VAR_002219
    Natural varianti129 – 1291V → M in ADASCID; delayed-onset. 1 Publication
    Corresponds to variant rs121908731 [ dbSNP | Ensembl ].
    VAR_002220
    Natural varianti140 – 1401G → E in ADASCID. 1 Publication
    Corresponds to variant rs121908732 [ dbSNP | Ensembl ].
    VAR_002221
    Natural varianti142 – 1421R → Q in a pancreatic ductal adenocarcinoma sample; somatic mutation. 2 Publications
    Corresponds to variant rs61732239 [ dbSNP | Ensembl ].
    VAR_002222
    Natural varianti149 – 1491R → Q in ADASCID. 1 Publication
    Corresponds to variant rs121908737 [ dbSNP | Ensembl ].
    VAR_002223
    Natural varianti149 – 1491R → W in ADASCID. 1 Publication
    Corresponds to variant rs121908733 [ dbSNP | Ensembl ].
    VAR_002224
    Natural varianti152 – 1521L → M in an individual with partial ADA deficiency but no immunodeficiency; 1,5% of activity. 1 Publication
    Corresponds to variant rs121908728 [ dbSNP | Ensembl ].
    VAR_002225
    Natural varianti156 – 1561R → C in ADASCID. 1 Publication
    Corresponds to variant rs121908735 [ dbSNP | Ensembl ].
    VAR_002226
    Natural varianti156 – 1561R → H in ADASCID. 1 Publication
    Corresponds to variant rs121908722 [ dbSNP | Ensembl ].
    VAR_002227
    Natural varianti177 – 1771V → M in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908719 [ dbSNP | Ensembl ].
    VAR_002228
    Natural varianti179 – 1791A → D in ADASCID; loss of activity. 1 Publication
    Corresponds to variant rs121908727 [ dbSNP | Ensembl ].
    VAR_002229
    Natural varianti199 – 1991Q → P in ADASCID; delayed-onset. 1 Publication
    Corresponds to variant rs121908734 [ dbSNP | Ensembl ].
    VAR_002230
    Natural varianti211 – 2111R → C in ADASCID; late onset. 1 Publication
    Corresponds to variant rs121908740 [ dbSNP | Ensembl ].
    VAR_002231
    Natural varianti211 – 2111R → H in ADASCID. 1 Publication
    Corresponds to variant rs121908716 [ dbSNP | Ensembl ].
    VAR_002232
    Natural varianti215 – 2151A → T in ADASCID. 1 Publication
    Corresponds to variant rs114025668 [ dbSNP | Ensembl ].
    VAR_002233
    Natural varianti216 – 2161G → R in ADASCID; severe. 1 Publication
    Corresponds to variant rs121908723 [ dbSNP | Ensembl ].
    VAR_002234
    Natural varianti233 – 2331T → I in an individual with partial ADA deficiency but no immunodeficiency; 20% of activity. 1 Publication
    Corresponds to variant rs121908729 [ dbSNP | Ensembl ].
    VAR_002235
    Natural varianti274 – 2741P → L in ADASCID. 1 Publication
    Corresponds to variant rs121908738 [ dbSNP | Ensembl ].
    VAR_002236
    Natural varianti291 – 2911S → L in ADASCID. 2 Publications
    Corresponds to variant rs121908721 [ dbSNP | Ensembl ].
    VAR_002237
    Natural varianti297 – 2971P → Q in ADASCID. 1 Publication
    Corresponds to variant rs121908718 [ dbSNP | Ensembl ].
    VAR_002238
    Natural varianti304 – 3041L → R in ADASCID; loss of activity.
    VAR_002239
    Natural varianti329 – 3291A → V in ADASCID. 1 Publication
    Corresponds to variant rs121908715 [ dbSNP | Ensembl ].
    VAR_002240
    Natural varianti337 – 3371Missing in ADASCID.
    VAR_002241

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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, Z97053 Genomic DNA. Translation: CAH73885.1.
    Z97053, AL139352 Genomic DNA. Translation: CAB09782.2.
    AK223397 mRNA. Translation: BAD97117.1.
    BC007678 mRNA. Translation: AAH07678.1.
    BC040226 mRNA. Translation: AAH40226.1.
    CCDSiCCDS13335.1.
    PIRiA91032. DUHUA.
    RefSeqiNP_000013.2. NM_000022.2.
    UniGeneiHs.654536.

    Genome annotation databases

    EnsembliENST00000372874; ENSP00000361965; ENSG00000196839.
    GeneIDi100.
    KEGGihsa:100.
    UCSCiuc002xmj.3. human.

    Polymorphism databases

    DMDMi113339.

    Keywords - Coding sequence diversityi

    Polymorphism

    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:
    EMBL
    GenBank
    DDBJ
    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 , Z97053 Genomic DNA. Translation: CAH73885.1 .
    Z97053 , AL139352 Genomic DNA. Translation: CAB09782.2 .
    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_000022.2.
    UniGenei Hs.654536.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1M7M model - A 1-363 [» ]
    3IAR X-ray 1.52 A 5-363 [» ]
    ProteinModelPortali P00813.
    SMRi P00813. Positions 5-363.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106614. 9 interactions.
    DIPi DIP-371N.
    IntActi P00813. 2 interactions.
    MINTi MINT-5000852.
    STRINGi 9606.ENSP00000361965.

    Chemistry

    BindingDBi P00813.
    ChEMBLi CHEMBL1910.
    DrugBanki DB00640. Adenosine.
    DB00242. Cladribine.
    DB00975. Dipyridamole.
    DB00199. Erythromycin.
    DB01073. Fludarabine.
    DB00249. Idoxuridine.
    DB01280. Nelarabine.
    DB00552. Pentostatin.
    DB00277. Theophylline.
    DB00194. Vidarabine.
    GuidetoPHARMACOLOGYi 1230.

    PTM databases

    PhosphoSitei P00813.

    Polymorphism databases

    DMDMi 113339.

    Proteomic databases

    MaxQBi P00813.
    PaxDbi P00813.
    PeptideAtlasi P00813.
    PRIDEi P00813.

    Protocols and materials databases

    DNASUi 100.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372874 ; ENSP00000361965 ; ENSG00000196839 .
    GeneIDi 100.
    KEGGi hsa:100.
    UCSCi uc002xmj.3. human.

    Organism-specific databases

    CTDi 100.
    GeneCardsi GC20M043248.
    GeneReviewsi ADA.
    HGNCi HGNC:186. ADA.
    HPAi CAB004307.
    HPA001399.
    HPA023884.
    MIMi 102700. phenotype.
    608958. gene.
    neXtProti NX_P00813.
    Orphaneti 39041. Omenn syndrome.
    277. Severe combined immunodeficiency due to adenosine deaminase deficiency.
    PharmGKBi PA24503.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1816.
    HOGENOMi HOG000218816.
    HOVERGENi HBG001718.
    InParanoidi P00813.
    KOi K01488.
    OMAi ELHCHLF.
    OrthoDBi EOG7GN2MZ.
    PhylomeDBi P00813.
    TreeFami TF314270.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS02191-MONOMER.
    Reactomei REACT_1923. Purine salvage.
    SABIO-RK P00813.
    SignaLinki P00813.

    Miscellaneous databases

    EvolutionaryTracei P00813.
    GeneWikii Adenosine_deaminase.
    GenomeRNAii 100.
    NextBioi 377.
    PROi P00813.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P00813.
    Bgeei P00813.
    CleanExi HS_ADA.
    Genevestigatori P00813.

    Family and domain databases

    HAMAPi MF_00540. A_deaminase.
    InterProi IPR006650. A/AMP_deam_AS.
    IPR001365. A/AMP_deaminase_dom.
    IPR028893. A_deaminase.
    IPR006330. Ado/ade_deaminase.
    [Graphical view ]
    Pfami PF00962. A_deaminase. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR01430. aden_deam. 1 hit.
    PROSITEi PS00485. A_DEAMINASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human adenosine deaminase. cDNA and complete primary amino acid sequence."
      Daddona P.E., Shewach D.S., Kelley W.N., Argos P., Markham A.F., Orkin S.H.
      J. Biol. Chem. 259:12101-12106(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Sequence of human adenosine deaminase cDNA including the coding region and a small intron."
      Wiginton D.A., Adrian G.S., Hutton J.J.
      Nucleic Acids Res. 12:2439-2446(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Adenosine deaminase: characterization and expression of a gene with a remarkable promoter."
      Valerio D., Duyvesteyn M.G.C., Dekker B.M.M., Weeda G., Berkvens T.M., van der Voorn L., van Ormondt H., van der Eb A.J.
      EMBO J. 4:437-443(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Thymus.
    6. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain and Placenta.
    8. Bienvenut W.V.
      Submitted (AUG-2004) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-11, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: B-cell lymphoma.
    9. "Molecular cloning of human adenosine deaminase gene sequences."
      Orkin S.H., Daddona P.E., Shewach D.S., Markham A.F., Bruns G.A., Goff S.C., Kelley W.N.
      J. Biol. Chem. 258:12753-12756(1983) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 141-363.
    10. "Direct association of adenosine deaminase with a T cell activation antigen, CD26."
      Kameoka J., Tanaka T., Nojima Y., Schlossman S.F., Morimoto C.
      Science 261:466-469(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DPP4, SUBCELLULAR LOCATION.
    11. "Binding of adenosine deaminase to the lymphocyte surface via CD26."
      De Meester I., Vanham G., Kestens L., Vanhoof G., Bosmans E., Gigase P., Scharpe S.
      Eur. J. Immunol. 24:566-570(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DPP4.
    12. "Molecular characterization of dipeptidyl peptidase activity in serum: soluble CD26/dipeptidyl peptidase IV is responsible for the release of X-Pro dipeptides."
      Durinx C., Lambeir A.M., Bosmans E., Falmagne J.B., Berghmans R., Haemers A., Scharpe S., De Meester I.
      Eur. J. Biochem. 267:5608-5613(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DPP4.
    13. "Regulation of epithelial and lymphocyte cell adhesion by adenosine deaminase-CD26 interaction."
      Gines S., Marino M., Mallol J., Canela E.I., Morimoto C., Callebaut C., Hovanessian A., Casado V., Lluis C., Franco R.
      Biochem. J. 361:203-209(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    14. "N-linked glycosylation of dipeptidyl peptidase IV (CD26): effects on enzyme activity, homodimer formation, and adenosine deaminase binding."
      Aertgeerts K., Ye S., Shi L., Prasad S.G., Witmer D., Chi E., Sang B.C., Wijnands R.A., Webb D.R., Swanson R.V.
      Protein Sci. 13:145-154(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH APP4.
    15. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    16. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-54 AND LYS-232, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. "The crystal structure of human adenosine deaminase."
      Structural genomics consortium (SGC)
      Submitted (AUG-2009) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.52 ANGSTROMS) OF 5-363 IN COMPLEX WITH NICKEL IONS AND 2-DEAOXYADENOSINE, COFACTOR.
    19. Cited for: VARIANTS ADASCID TRP-76; PRO-107; GLN-149; CYS-211; THR-215 AND LEU-274.
    20. "An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover."
      Hirschhorn R., Yang D.R., Israni A.
      Ann. Hum. Genet. 58:1-9(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ADA*2 ASN-8.
    21. "Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines."
      Adrian G.S., Wiginton D.A., Hutton J.
      Mol. Cell. Biol. 4:1712-1717(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ADASCID.
    22. "Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency."
      Bonthron D.T., Markham A.F., Ginsburg D., Orkin S.H.
      J. Clin. Invest. 76:894-897(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ADASCID GLN-101.
    23. "Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts."
      Akeson A.L., Wiginton D.A., Dusing M.R., States J.C., Hutton J.J.
      J. Biol. Chem. 263:16291-16296(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ADASCID TRP-101; HIS-211 AND VAL-329.
    24. "Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency."
      Hirschhorn R., Tzall S., Ellenbogen A., Orkin S.H.
      J. Clin. Invest. 83:497-501(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ADASCID GLN-297.
    25. "Identification of two new missense mutations (R156C and S291L) in two ADA-SCID patients unusual for response to therapy with partial exchange transfusions."
      Hirschhorn R.
      Hum. Mutat. 1:166-168(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ADASCID CYS-156 AND LEU-291.
    26. "Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype."
      Santisteban I., Arredondo-Vega F.X., Kelly S., Mary A., Fischer A., Hummell D.S., Lawton A., Sorensen R.U., Stiehm E.R., Uribe L., Weinberg K., Hershfield M.S.
      J. Clin. Invest. 92:2291-2302(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ADASCID LEU-101; HIS-156; MET-177; ARG-216 AND LEU-291.
    27. "Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID)."
      Yang D.R., Huie M.L., Hirschhorn R.
      Clin. Immunol. Immunopathol. 70:171-175(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ADASCID ARG-20.
    28. "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."
      Santisteban I., Arredondo-Vega F.X., Kelly S., Loubser M., Meydan N., Roifman C., Howell P.L., Bowen T., Weinberg K.I., Schroeder M.L., Hershfield M.S.
      Hum. Mol. Genet. 4:2081-2087(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-80 AND GLN-142.
    29. "Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site."
      Santisteban I., Arredondo-Vega F.X., Kelly S., Debre M., Fisher A., Perignon J.L., Hilman B., Eldahr J., Dreyfus D.H., Gelfand E.W., Howell P.L., Hershfield M.S.
      Hum. Mutat. 5:243-250(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ADASCID ASP-15; ASP-83 AND ASP-179.
    30. "Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes."
      Hirschhorn R., Borkowsky W., Jiang C.-K., Yang D.R., Jenkins T.
      Hum. Genet. 100:22-29(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MET-152 AND ILE-233.
    31. "Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del."
      Arrendondo-Vega F.X., Santisteban I., Notarangelo L.D., El Dahr J., Buckley R., Roifman C., Conley M.E., Hershfield M.S.
      Hum. Mutat. 11:482-482(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ADASCID CYS-74; MET-129; GLU-140; TRP-149 AND PRO-199.
    32. "A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans."
      Retey J.V., Adam M., Honegger E., Khatami R., Luhmann U.F.O., Jung H.H., Berger W., Landolt H.-P.
      Proc. Natl. Acad. Sci. U.S.A. 102:15676-15681(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: EFFECT OF VARIANT ADA*2 ASN-8 ON SLEEP.
    33. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-142.

    Entry informationi

    Entry nameiADA_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 180 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3