Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P00813 (ADA_HUMAN)

Protein

Adenosine deaminase

Gene

ADA

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

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 Publications

Catalytic activityi

Adenosine + H2O = inosine + NH3.3 Publications

Cofactori

Zn2+1 PublicationNote: Binds 1 zinc ion per subunit.1 Publication

Activity regulationi

Inhibited by Cu2+ and Hg2+, coformycin, deoxycoformycin (dCF), 2-deoxyadenosine, 6-methylaminopurine riboside, 2-3-iso-propylidene-adenosine and erythro-9-(2-hydroxy-3-nonyl)adenine.2 Publications

Kineticsi

  1. KM=37 µM for adenosine (at 25 degrees Celsius and pH 5.5)1 Publication
  1. Vmax=41 µmol/min/mg enzyme1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi15Zinc; catalytic1 Publication1
Metal bindingi17Zinc; catalytic1 Publication1
Binding sitei17SubstrateCombined sources1 Publication1
Binding sitei19SubstrateCombined sources1 Publication1
Sitei58Important for interaction with adenosine receptors and increasing their affinity for agonists1 Publication1
Sitei62Important for interaction with adenosine receptors and increasing their affinity for agonists1 Publication1
Binding sitei184Substrate; via amide nitrogenCombined sources1 Publication1
Metal bindingi214Zinc; catalytic1 Publication1
Active sitei217Proton donorBy similarity1
Sitei238Important for catalytic activityBy similarity1
Metal bindingi295Zinc; catalytic1 Publication1
Binding sitei296SubstrateCombined sources1 Publication1

GO - Molecular functioni

  • adenosine deaminase activity Source: UniProtKB
  • purine nucleoside binding Source: Ensembl
  • zinc ion binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase
Biological processCell adhesion, Nucleotide metabolism
LigandMetal-binding, Zinc

Enzyme and pathway databases

BioCyciMetaCyc:HS02191-MONOMER
BRENDAi3.5.4.4 2681
ReactomeiR-HSA-74217 Purine salvage
SABIO-RKiP00813
SignaLinkiP00813

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000196839.12
HGNCiHGNC:186 ADA
MIMi608958 gene
neXtProtiNX_P00813

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoplasmic vesicle, Lysosome, 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)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:102700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00221015H → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908725EnsemblClinVar.1
Natural variantiVAR_00221120G → R in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908724EnsemblClinVar.1
Natural variantiVAR_00221274G → C in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908730EnsemblClinVar.1
Natural variantiVAR_00221376R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908736EnsemblClinVar.1
Natural variantiVAR_00221583A → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908726EnsemblClinVar.1
Natural variantiVAR_07695497Y → 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_002216101R → L in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908714EnsemblClinVar.1
Natural variantiVAR_002218101R → Q in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908714EnsemblClinVar.1
Natural variantiVAR_002217101R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908717EnsemblClinVar.1
Natural variantiVAR_076955106L → 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_002219107L → P in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908739EnsemblClinVar.1
Natural variantiVAR_002220129V → M in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908731EnsemblClinVar.1
Natural variantiVAR_002221140G → E in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908732EnsemblClinVar.1
Natural variantiVAR_002223149R → Q in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908737EnsemblClinVar.1
Natural variantiVAR_002224149R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908733EnsemblClinVar.1
Natural variantiVAR_002226156R → C in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908735EnsemblClinVar.1
Natural variantiVAR_002227156R → H in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908722EnsemblClinVar.1
Natural variantiVAR_002228177V → M in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908719EnsemblClinVar.1
Natural variantiVAR_002229179A → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908727EnsemblClinVar.1
Natural variantiVAR_002230199Q → P in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908734EnsemblClinVar.1
Natural variantiVAR_002231211R → C in ADASCID; late onset; 4% of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908740EnsemblClinVar.1
Natural variantiVAR_002232211R → H in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908716EnsemblClinVar.1
Natural variantiVAR_002233215A → T in ADASCID; 8% of activity. 2 PublicationsCorresponds to variant dbSNP:rs114025668EnsemblClinVar.1
Natural variantiVAR_002234216G → R in ADASCID; severe. 1 PublicationCorresponds to variant dbSNP:rs121908723EnsemblClinVar.1
Natural variantiVAR_002236274P → L in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908738EnsemblClinVar.1
Natural variantiVAR_002237291S → L in ADASCID. 2 PublicationsCorresponds to variant dbSNP:rs121908721EnsemblClinVar.1
Natural variantiVAR_002238297P → Q in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908718EnsemblClinVar.1
Natural variantiVAR_002239304L → R in ADASCID; loss of activity. Corresponds to variant dbSNP:rs199422327EnsemblClinVar.1
Natural variantiVAR_002240329A → V in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908715EnsemblClinVar.1
Natural variantiVAR_002241337Missing in ADASCID. 1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi58L → A: Decreases enzyme activity by reducing substrate affinity and maximum velocity; abolishes ADORA1 and ADORA2A modulator function. 1 Publication1
Mutagenesisi60D → A: Moderately reduces enzyme activity; reduces ADORA1 and ADORA2A modulation. 1 Publication1
Mutagenesisi61F → A: Decreases enzyme activity by reducing maximum velocity; reduces ADORA1 modulation. 1 Publication1
Mutagenesisi62L → A: Decreases enzyme activity by reducing substrate affinity and maximum velocity; abolishes ADORA1 and ADORA2A modulator function. 1 Publication1
Mutagenesisi64K → A: Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication1
Mutagenesisi65F → A: Decreases enzyme activity by reducing substrate affinity and maximum velocity; reduces ADORA1 and ADORA2A modulation. 1 Publication1
Mutagenesisi66D → A: No change in enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication1
Mutagenesisi69M → A: Decreases enzyme activity by reducing maximum velocity; reduces ADORA2A modulation. 1 Publication1
Mutagenesisi115I → A: No change in enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication1
Mutagenesisi118N → A: Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication1
Mutagenesisi155M → A: Decreases enzyme activity by reducing substrate affinity and maximum velocity. 1 Publication1
Mutagenesisi157H → A: Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation. 1 Publication1
Mutagenesisi184G → Q: Moderately reduces enzyme activity. 1 Publication1
Mutagenesisi185D → A: Moderately reduces enzyme activity. 1 Publication1
Mutagenesisi194L → A: No change in enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia, SCID

Organism-specific databases

DisGeNETi100
GeneReviewsiADA
MalaCardsiADA
MIMi102700 phenotype
OpenTargetsiENSG00000196839
Orphaneti39041 Omenn syndrome
277 Severe combined immunodeficiency due to adenosine deaminase deficiency
PharmGKBiPA24503

Chemistry databases

ChEMBLiCHEMBL1910
DrugBankiDB07783 1-((1R)-1-(HYDROXYMETHYL)-3-{6-[(3-PHENYLPROPANOYL)AMINO]-1H-INDOL-1-YL}PROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE
DB04218 1-Deaza-Adenosine
DB00640 Adenosine
DB00975 Dipyridamole
DB00974 Edetic Acid
DB05057 Erdosteine
DB02616 FR117016
DB02096 FR221647
DB03572 FR230513
DB03220 FR233623
DB02830 FR236913
DB03370 FR239087
DB01280 Nelarabine
DB00552 Pentostatin
DB04440 Purine Riboside
DB00277 Theophylline
DB00194 Vidarabine
GuidetoPHARMACOLOGYi1230

Polymorphism and mutation databases

BioMutaiADA
DMDMi113339

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00001943522 – 363Adenosine deaminaseAdd BLAST362

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1
Modified residuei54N6-acetyllysineCombined sources1
Modified residuei232N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP00813
MaxQBiP00813
PaxDbiP00813
PeptideAtlasiP00813
PRIDEiP00813
ProteomicsDBi51289
TopDownProteomicsiP00813

PTM databases

iPTMnetiP00813
PhosphoSitePlusiP00813
SwissPalmiP00813

Expressioni

Tissue specificityi

Found in all tissues, occurs in large amounts in T-lymphocytes (PubMed:20959412). Expressed at the time of weaning in gastrointestinal tissues.1 Publication

Inductioni

Up-regulated by hypoxia.1 Publication

Gene expression databases

BgeeiENSG00000196839 Expressed in 158 organ(s), highest expression level in duodenum
CleanExiHS_ADA
ExpressionAtlasiP00813 baseline and differential
GenevisibleiP00813 HS

Organism-specific databases

HPAiCAB004307
HPA001399
HPA023884

Interactioni

Subunit structurei

Interacts with DPP4 (via extracellular domain) (PubMed:10951221, PubMed:14691230, PubMed:7907293, PubMed:8101391, PubMed:15016824). Interacts with PLG (via Kringle 4 domain); the interaction stimulates PLG activation when in complex with DPP4 (PubMed:15016824).5 Publications

Protein-protein interaction databases

BioGridi106614, 24 interactors
CORUMiP00813
DIPiDIP-371N
IntActiP00813, 5 interactors
STRINGi9606.ENSP00000361965

Chemistry databases

BindingDBiP00813

Structurei

Secondary structure

1363
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP00813
SMRiP00813
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00813

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni126 – 143Required for binding to DDP41 PublicationAdd BLAST18

Sequence similaritiesi

Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.Curated

Phylogenomic databases

eggNOGiKOG1097 Eukaryota
COG1816 LUCA
GeneTreeiENSGT00730000111151
HOGENOMiHOG000218816
HOVERGENiHBG001718
InParanoidiP00813
KOiK01488
OMAiMCFLRDE
OrthoDBiEOG091G0NL8
PhylomeDBiP00813
TreeFamiTF314270

Family and domain databases

CDDicd01320 ADA, 1 hit
HAMAPiMF_00540 A_deaminase, 1 hit
InterProiView protein in InterPro
IPR006650 A/AMP_deam_AS
IPR001365 A/AMP_deaminase_dom
IPR028893 A_deaminase
IPR006330 Ado/ade_deaminase
IPR032466 Metal_Hydrolase
PfamiView protein in Pfam
PF00962 A_deaminase, 1 hit
SUPFAMiSSF51556 SSF51556, 1 hit
TIGRFAMsiTIGR01430 aden_deam, 1 hit
PROSITEiView protein in PROSITE
PS00485 A_DEAMINASE, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GWI4F5GWI4_HUMAN
Adenosine deaminase isoform 2
ADA
339Annotation score:
F5GXW0F5GXW0_HUMAN
Adenosine deaminase
ADA
263Annotation score:
F5GYD4F5GYD4_HUMAN
Adenosine deaminase
ADA
75Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti340K → R in BAD97117 (Ref. 5) Curated1

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.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0022098D → N Polymorphism; 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_00221015H → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908725EnsemblClinVar.1
Natural variantiVAR_00221120G → R in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908724EnsemblClinVar.1
Natural variantiVAR_00221274G → C in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908730EnsemblClinVar.1
Natural variantiVAR_00221376R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908736EnsemblClinVar.1
Natural variantiVAR_00221480K → R1 PublicationCorresponds to variant dbSNP:rs11555566EnsemblClinVar.1
Natural variantiVAR_00221583A → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908726EnsemblClinVar.1
Natural variantiVAR_07695497Y → 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_002216101R → L in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908714EnsemblClinVar.1
Natural variantiVAR_002218101R → Q in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908714EnsemblClinVar.1
Natural variantiVAR_002217101R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908717EnsemblClinVar.1
Natural variantiVAR_076955106L → 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_002219107L → P in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908739EnsemblClinVar.1
Natural variantiVAR_002220129V → M in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908731EnsemblClinVar.1
Natural variantiVAR_002221140G → E in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908732EnsemblClinVar.1
Natural variantiVAR_002222142R → Q in a pancreatic ductal adenocarcinoma sample; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs61732239EnsemblClinVar.1
Natural variantiVAR_002223149R → Q in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908737EnsemblClinVar.1
Natural variantiVAR_002224149R → W in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908733EnsemblClinVar.1
Natural variantiVAR_002225152L → M in an individual with partial ADA deficiency but no immunodeficiency; 1,5% of activity. 1 PublicationCorresponds to variant dbSNP:rs121908728EnsemblClinVar.1
Natural variantiVAR_002226156R → C in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908735EnsemblClinVar.1
Natural variantiVAR_002227156R → H in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908722EnsemblClinVar.1
Natural variantiVAR_002228177V → M in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908719EnsemblClinVar.1
Natural variantiVAR_002229179A → D in ADASCID; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121908727EnsemblClinVar.1
Natural variantiVAR_002230199Q → P in ADASCID; delayed-onset. 1 PublicationCorresponds to variant dbSNP:rs121908734EnsemblClinVar.1
Natural variantiVAR_002231211R → C in ADASCID; late onset; 4% of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908740EnsemblClinVar.1
Natural variantiVAR_002232211R → H in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908716EnsemblClinVar.1
Natural variantiVAR_002233215A → T in ADASCID; 8% of activity. 2 PublicationsCorresponds to variant dbSNP:rs114025668EnsemblClinVar.1
Natural variantiVAR_002234216G → R in ADASCID; severe. 1 PublicationCorresponds to variant dbSNP:rs121908723EnsemblClinVar.1
Natural variantiVAR_002235233T → I in an individual with partial ADA deficiency but no immunodeficiency; 20% of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908729EnsemblClinVar.1
Natural variantiVAR_002236274P → L in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908738EnsemblClinVar.1
Natural variantiVAR_002237291S → L in ADASCID. 2 PublicationsCorresponds to variant dbSNP:rs121908721EnsemblClinVar.1
Natural variantiVAR_002238297P → Q in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908718EnsemblClinVar.1
Natural variantiVAR_002239304L → R in ADASCID; loss of activity. Corresponds to variant dbSNP:rs199422327EnsemblClinVar.1
Natural variantiVAR_002240329A → V in ADASCID. 1 PublicationCorresponds to variant dbSNP:rs121908715EnsemblClinVar.1
Natural variantiVAR_002241337Missing 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
CCDSiCCDS13335.1
PIRiA91032 DUHUA
RefSeqiNP_000013.2, NM_000022.3
UniGeneiHs.654536

Genome annotation databases

EnsembliENST00000372874; ENSP00000361965; ENSG00000196839
GeneIDi100
KEGGihsa:100
UCSCiuc002xmj.4 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS13335.1
PIRiA91032 DUHUA
RefSeqiNP_000013.2, NM_000022.3
UniGeneiHs.654536

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M7Mmodel-A1-363[»]
3IARX-ray1.52A5-363[»]
ProteinModelPortaliP00813
SMRiP00813
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106614, 24 interactors
CORUMiP00813
DIPiDIP-371N
IntActiP00813, 5 interactors
STRINGi9606.ENSP00000361965

Chemistry databases

BindingDBiP00813
ChEMBLiCHEMBL1910
DrugBankiDB07783 1-((1R)-1-(HYDROXYMETHYL)-3-{6-[(3-PHENYLPROPANOYL)AMINO]-1H-INDOL-1-YL}PROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE
DB04218 1-Deaza-Adenosine
DB00640 Adenosine
DB00975 Dipyridamole
DB00974 Edetic Acid
DB05057 Erdosteine
DB02616 FR117016
DB02096 FR221647
DB03572 FR230513
DB03220 FR233623
DB02830 FR236913
DB03370 FR239087
DB01280 Nelarabine
DB00552 Pentostatin
DB04440 Purine Riboside
DB00277 Theophylline
DB00194 Vidarabine
GuidetoPHARMACOLOGYi1230

PTM databases

iPTMnetiP00813
PhosphoSitePlusiP00813
SwissPalmiP00813

Polymorphism and mutation databases

BioMutaiADA
DMDMi113339

Proteomic databases

EPDiP00813
MaxQBiP00813
PaxDbiP00813
PeptideAtlasiP00813
PRIDEiP00813
ProteomicsDBi51289
TopDownProteomicsiP00813

Protocols and materials databases

DNASUi100
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372874; ENSP00000361965; ENSG00000196839
GeneIDi100
KEGGihsa:100
UCSCiuc002xmj.4 human

Organism-specific databases

CTDi100
DisGeNETi100
EuPathDBiHostDB:ENSG00000196839.12
GeneCardsiADA
GeneReviewsiADA
HGNCiHGNC:186 ADA
HPAiCAB004307
HPA001399
HPA023884
MalaCardsiADA
MIMi102700 phenotype
608958 gene
neXtProtiNX_P00813
OpenTargetsiENSG00000196839
Orphaneti39041 Omenn syndrome
277 Severe combined immunodeficiency due to adenosine deaminase deficiency
PharmGKBiPA24503
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1097 Eukaryota
COG1816 LUCA
GeneTreeiENSGT00730000111151
HOGENOMiHOG000218816
HOVERGENiHBG001718
InParanoidiP00813
KOiK01488
OMAiMCFLRDE
OrthoDBiEOG091G0NL8
PhylomeDBiP00813
TreeFamiTF314270

Enzyme and pathway databases

BioCyciMetaCyc:HS02191-MONOMER
BRENDAi3.5.4.4 2681
ReactomeiR-HSA-74217 Purine salvage
SABIO-RKiP00813
SignaLinkiP00813

Miscellaneous databases

ChiTaRSiADA human
EvolutionaryTraceiP00813
GeneWikiiAdenosine_deaminase
GenomeRNAii100
PROiPR:P00813
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196839 Expressed in 158 organ(s), highest expression level in duodenum
CleanExiHS_ADA
ExpressionAtlasiP00813 baseline and differential
GenevisibleiP00813 HS

Family and domain databases

CDDicd01320 ADA, 1 hit
HAMAPiMF_00540 A_deaminase, 1 hit
InterProiView protein in InterPro
IPR006650 A/AMP_deam_AS
IPR001365 A/AMP_deaminase_dom
IPR028893 A_deaminase
IPR006330 Ado/ade_deaminase
IPR032466 Metal_Hydrolase
PfamiView protein in Pfam
PF00962 A_deaminase, 1 hit
SUPFAMiSSF51556 SSF51556, 1 hit
TIGRFAMsiTIGR01430 aden_deam, 1 hit
PROSITEiView protein in PROSITE
PS00485 A_DEAMINASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiADA_HUMAN
AccessioniPrimary (citable) accession number: P00813
Secondary accession number(s): Q53F92, Q6LA59
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 217 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again