ADA
entrez
100
canonical
uniprot
P00813
canonical
ensembl
ENSG00000196839
resolver
ensp
ENSP00000361965
resolver
ensp
ENSP00000441818
resolver
enst
ENST00000372874
resolver
enst
ENST00000537820
resolver
genesymbol
ADA
resolver
genesymbol_syn
ADA1
resolver
hgnc
HGNC:186
resolver
uniprot
A0A0S2Z381
resolver
uniprot
A0A0S2Z3A7
resolver
uniprot
F5GWI4
resolver
uniprot
Q53F92
resolver
uniprot
Q6LA59
resolver
uniprot_entry
A0A0S2Z381_HUMAN
resolver
uniprot_entry
A0A0S2Z3A7_HUMAN
resolver
uniprot_entry
ADA_HUMAN
resolver
uniprot_entry
F5GWI4_HUMAN
resolver
uniprot_sec
Q53F92
resolver
uniprot_sec
Q6LA59
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by Cu(2+) and Hg(2+), coformycin, deoxycoformycin (dCF), 2-deoxyadenosine, 6-methylaminopurine riboside, 2-3-iso-propylidene-adenosine, pentostatin, naringin and erythro-9-(2-hydroxy-3-nonyl)adenine (EHNA). {ECO:0000269|PubMed:16670267, ECO:0000269|PubMed:26038697, ECO:0000269|PubMed:8452534}.
uniprot
proteins
amino_acid_sequence
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:10200056, ECO:0000269|PubMed:1284479, ECO:0000269|PubMed:2166947, ECO:0000269|PubMed:2783588, ECO:0000269|PubMed:3007108, ECO:0000269|PubMed:3182793, ECO:0000269|PubMed:3839802, ECO:0000269|PubMed:6208479, ECO:0000269|PubMed:7599635, ECO:0000269|PubMed:8227344, ECO:0000269|PubMed:8299233, ECO:0000269|PubMed:9361033}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.4.4
uniprot
proteins
function
FUNCTION: Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:16670267, PubMed:23193172, PubMed:26166670, PubMed:8452534, PubMed:9361033). 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). Also responsible for the deamination of cordycepin (3'-deoxyadenosine), a fungal natural product that shows antitumor, antibacterial, antifungal, antivirus, and immune regulation properties (PubMed:26038697). {ECO:0000250|UniProtKB:P03958, ECO:0000250|UniProtKB:P56658, ECO:0000269|PubMed:11772392, ECO:0000269|PubMed:15016824, ECO:0000269|PubMed:16670267, ECO:0000269|PubMed:20959412, ECO:0000269|PubMed:21919946, ECO:0000269|PubMed:23193172, ECO:0000269|PubMed:26038697, ECO:0000269|PubMed:26166670, ECO:0000269|PubMed:8452534, ECO:0000269|PubMed:9361033}.
uniprot
proteins
mass_dalton
40764
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="L->A: Decreases enzyme activity by reducing substrate affinity and maximum velocity; abolishes ADORA1 and ADORA2A modulator function."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 60; /note="D->A: Moderately reduces enzyme activity; reduces ADORA1 and ADORA2A modulation."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 61; /note="F->A: Decreases enzyme activity by reducing maximum velocity; reduces ADORA1 modulation."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 62; /note="L->A: Decreases enzyme activity by reducing substrate affinity and maximum velocity; abolishes ADORA1 and ADORA2A modulator function."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 64; /note="K->A: Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 65; /note="F->A: Decreases enzyme activity by reducing substrate affinity and maximum velocity; reduces ADORA1 and ADORA2A modulation."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 66; /note="D->A: No change in enzyme activity; no change in ADORA1 and ADORA2A modulation."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 69; /note="M->A: Decreases enzyme activity by reducing maximum velocity; reduces ADORA2A modulation."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 115; /note="I->A: No change in enzyme activity; no change in ADORA1 and ADORA2A modulation."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 118; /note="N->A: Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 155; /note="M->A: Decreases enzyme activity by reducing substrate affinity and maximum velocity."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 157; /note="H->A: Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 184; /note="G->Q: Moderately reduces enzyme activity."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 185; /note="D->A: Moderately reduces enzyme activity."; /evidence="ECO:0000269|PubMed:23193172"; MUTAGEN 194; /note="L->A: No change in enzyme activity."; /evidence="ECO:0000269|PubMed:23193172
uniprot
proteins
protein_family
Adenosine and AMP deaminases family
uniprot
proteins
protein_family
Metallo-dependent hydrolases superfamily
uniprot
proteins
pubmed
10200056
uniprot
proteins
pubmed
10951221
uniprot
proteins
pubmed
11772392
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
1284479
uniprot
proteins
pubmed
14691230
uniprot
proteins
pubmed
15016824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16221767
uniprot
proteins
pubmed
16670267
uniprot
proteins
pubmed
18772397
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20959412
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2166947
uniprot
proteins
pubmed
21734253
uniprot
proteins
pubmed
21919946
uniprot
proteins
pubmed
23193172
uniprot
proteins
pubmed
26038697
uniprot
proteins
pubmed
26166670
uniprot
proteins
pubmed
2783588
uniprot
proteins
pubmed
3007108
uniprot
proteins
pubmed
3028473
uniprot
proteins
pubmed
3182793
uniprot
proteins
pubmed
3839456
uniprot
proteins
pubmed
3839802
uniprot
proteins
pubmed
6090454
uniprot
proteins
pubmed
6208479
uniprot
proteins
pubmed
6546794
uniprot
proteins
pubmed
6688808
uniprot
proteins
pubmed
7599635
uniprot
proteins
pubmed
7907293
uniprot
proteins
pubmed
8031011
uniprot
proteins
pubmed
8101391
uniprot
proteins
pubmed
8227344
uniprot
proteins
pubmed
8299233
uniprot
proteins
pubmed
8452534
uniprot
proteins
pubmed
8589684
uniprot
proteins
pubmed
9225964
uniprot
proteins
pubmed
9361033
uniprot
proteins
sequence_length
363
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11772392, ECO:0000269|PubMed:8101391}; Peripheral membrane protein; Extracellular side. Cell junction {ECO:0000269|PubMed:11772392}. Cytoplasmic vesicle lumen {ECO:0000250|UniProtKB:P03958}. Cytoplasm {ECO:0000250}. Lysosome {ECO:0000269|PubMed:8452534}. Note=Colocalized with DPP4 at the cell surface. {ECO:0000269|PubMed:11772392}.
uniprot
proteins