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P00813

- ADA_HUMAN

UniProt

P00813 - ADA_HUMAN

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Protein

Adenosine deaminase

Gene

ADA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. purine nucleoside binding Source: Ensembl
  3. 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
Complete GO annotation...

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-KW
  2. cell surface Source: UniProtKB
  3. cytoplasm Source: HPA
  4. cytoplasmic vesicle Source: UniProtKB-KW
  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
Complete GO annotation...

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

BgeeiP00813.
CleanExiHS_ADA.
ExpressionAtlasiP00813. baseline and differential.
GenevestigatoriP00813.

Organism-specific databases

HPAiCAB004307.
HPA001399.
HPA023884.

Interactioni

Subunit structurei

Interacts with DPP4 (extracellular domain).5 Publications

Protein-protein interaction databases

BioGridi106614. 11 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.
GeneTreeiENSGT00730000111151.
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

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

Chemistry

BindingDBi P00813.
ChEMBLi CHEMBL1910.
DrugBanki DB00640. Adenosine.
DB00975. Dipyridamole.
DB00974. Edetic Acid.
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.
GeneTreei ENSGT00730000111151.
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

Bgeei P00813.
CleanExi HS_ADA.
ExpressionAtlasi P00813. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 181 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