Details for: ADA

Gene ID: 100

Symbol: ADA

Ensembl ID: ENSG00000196839

Description: adenosine deaminase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 69.4975
    Cell Significance Index: -10.8100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 29.7595
    Cell Significance Index: -12.0900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 25.4867
    Cell Significance Index: -13.1100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 19.0158
    Cell Significance Index: -12.7600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 10.7930
    Cell Significance Index: 275.7300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.1569
    Cell Significance Index: -11.2900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.0334
    Cell Significance Index: -11.9700
  • Cell Name: centroblast (CL0009112)
    Fold Change: 2.7775
    Cell Significance Index: 6.4800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.0904
    Cell Significance Index: -5.6000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.0704
    Cell Significance Index: 133.5700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.5636
    Cell Significance Index: 45.9200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2086
    Cell Significance Index: 119.5600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.1052
    Cell Significance Index: 130.3400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1030
    Cell Significance Index: 66.2200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0102
    Cell Significance Index: 192.2500
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.8725
    Cell Significance Index: 5.5700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6527
    Cell Significance Index: 14.1400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.6509
    Cell Significance Index: 4.4100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.5137
    Cell Significance Index: 10.9800
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.4438
    Cell Significance Index: 3.6700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4353
    Cell Significance Index: 47.3500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.4109
    Cell Significance Index: 8.0200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.3771
    Cell Significance Index: 4.1000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.3342
    Cell Significance Index: 8.9400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3070
    Cell Significance Index: 8.8500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2380
    Cell Significance Index: 6.6500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2296
    Cell Significance Index: 158.8000
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.2284
    Cell Significance Index: 1.6400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2272
    Cell Significance Index: 15.7100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.2228
    Cell Significance Index: 11.2600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.1224
    Cell Significance Index: 1.3900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0884
    Cell Significance Index: 1.8500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0530
    Cell Significance Index: 33.1100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0437
    Cell Significance Index: 8.6800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.0424
    Cell Significance Index: 0.7500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0420
    Cell Significance Index: 1.0500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0269
    Cell Significance Index: 0.7700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0248
    Cell Significance Index: 3.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0233
    Cell Significance Index: 21.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0206
    Cell Significance Index: 3.5100
  • Cell Name: colonocyte (CL1000347)
    Fold Change: 0.0186
    Cell Significance Index: 0.1100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0182
    Cell Significance Index: 8.0300
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.0110
    Cell Significance Index: 0.0600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0072
    Cell Significance Index: 13.3000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0021
    Cell Significance Index: 1.1500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0011
    Cell Significance Index: -1.6400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0012
    Cell Significance Index: -0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0020
    Cell Significance Index: -3.8200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0030
    Cell Significance Index: -0.4800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0080
    Cell Significance Index: -5.9100
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0083
    Cell Significance Index: -0.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0099
    Cell Significance Index: -13.4100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0112
    Cell Significance Index: -6.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0146
    Cell Significance Index: -11.0600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0161
    Cell Significance Index: -10.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0174
    Cell Significance Index: -3.6600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0175
    Cell Significance Index: -12.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0182
    Cell Significance Index: -0.6400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0193
    Cell Significance Index: -0.4100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0210
    Cell Significance Index: -6.0400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0224
    Cell Significance Index: -4.0300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0261
    Cell Significance Index: -3.8000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0266
    Cell Significance Index: -12.0900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0267
    Cell Significance Index: -3.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0300
    Cell Significance Index: -3.8800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0310
    Cell Significance Index: -11.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0359
    Cell Significance Index: -7.2000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0452
    Cell Significance Index: -3.2000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0548
    Cell Significance Index: -6.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0644
    Cell Significance Index: -2.9200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0686
    Cell Significance Index: -7.0100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0741
    Cell Significance Index: -1.2400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0801
    Cell Significance Index: -9.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0807
    Cell Significance Index: -9.2500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0842
    Cell Significance Index: -4.3900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0873
    Cell Significance Index: -2.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0915
    Cell Significance Index: -5.6100
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.1042
    Cell Significance Index: -1.7900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1085
    Cell Significance Index: -5.1000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1096
    Cell Significance Index: -11.4200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1146
    Cell Significance Index: -8.8000
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.1271
    Cell Significance Index: -0.7900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1341
    Cell Significance Index: -1.9300
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.1396
    Cell Significance Index: -1.2000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1397
    Cell Significance Index: -4.4800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1548
    Cell Significance Index: -11.5400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1577
    Cell Significance Index: -8.1900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1603
    Cell Significance Index: -5.5700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1622
    Cell Significance Index: -12.8500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1625
    Cell Significance Index: -6.6600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1817
    Cell Significance Index: -12.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1830
    Cell Significance Index: -10.2700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1967
    Cell Significance Index: -12.0900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1975
    Cell Significance Index: -12.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2011
    Cell Significance Index: -9.3800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2077
    Cell Significance Index: -2.9800
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.2129
    Cell Significance Index: -3.6700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2273
    Cell Significance Index: -3.4300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2554
    Cell Significance Index: -6.3700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Enzyme Activity**: ADA is a 2'-deoxyadenosine deaminase, which means it catalyzes the removal of the 2'-hydroxyl group from deoxyadenosine, resulting in the formation of inosine and deoxyinosine. 2. **Subcellular Location**: ADA is primarily found in the cytosol of cells, with some expression in the nucleus and on the surface of cells. 3. **Cellular Expression**: ADA is expressed in various cell types, including pro-T cells, pre-B cells, and mature B cells, as well as in germ cells and tonsil germinal center B cells. 4. **Regulatory Mechanisms**: ADA is regulated by various mechanisms, including feedback inhibition by its substrates and products, as well as post-translational modifications. **Pathways and Functions** 1. **Purine Salvage Pathway**: ADA is a key component of the purine salvage pathway, which involves the reutilization of purine bases from nucleic acids to synthesize new nucleotides. 2. **Adenosine Metabolism**: ADA plays a crucial role in the breakdown of adenosine, a purine nucleoside that acts as a signaling molecule in various cellular processes. 3. **Immune Function**: ADA is essential for the development and function of immune cells, including T cells and B cells, and is involved in the regulation of immune responses, including inflammation and apoptosis. 4. **Catabolic Processes**: ADA is also involved in the catabolism of other purine-containing compounds, such as inosine and hypoxanthine. **Clinical Significance** 1. **Severe Combined Immunodeficiency (SCID)**: Mutations or deficiencies in the ADA gene can lead to SCID, a severe immunodeficiency disorder characterized by impaired T cell and B cell function. 2. **Adenosine Deaminase Deficiency**: ADA deficiency is a genetic disorder that affects the breakdown of adenosine and deoxyadenosine, leading to an accumulation of toxic metabolites and impaired immune function. 3. **Therapeutic Applications**: Enzyme replacement therapy (ERT) and gene therapy have been developed to treat ADA deficiency, providing a potential treatment option for patients with this disorder. 4. **Cancer Research**: ADA has been implicated in various cancer-related processes, including tumorigenesis, metastasis, and resistance to chemotherapy. In conclusion, ADA is a critical enzyme involved in the regulation of purine metabolism, immune function, and various catabolic processes. Its deficiency or dysfunction can lead to severe immunodeficiency disorders, highlighting the importance of this enzyme in maintaining immune homeostasis.

Genular Protein ID: 1289082863

Symbol: ADA_HUMAN

Name: Adenosine deaminase

UniProtKB Accession Codes:

P00813 Q53F92 Q6LA59

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CPTC 1 CTD 1 ChEBI 20 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 25 DrugCentral 1 EC 2 EMBL 18 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 67 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HAMAP 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 6 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 6090454

Title: Human adenosine deaminase. cDNA and complete primary amino acid sequence.

PubMed ID: 6090454

DOI: 10.1016/s0021-9258(20)71325-6

PubMed ID: 6546794

Title: Sequence of human adenosine deaminase cDNA including the coding region and a small intron.

PubMed ID: 6546794

DOI: 10.1093/nar/12.5.2439

PubMed ID: 3839456

Title: Adenosine deaminase: characterization and expression of a gene with a remarkable promoter.

PubMed ID: 3839456

DOI: 10.1002/j.1460-2075.1985.tb03648.x

PubMed ID: 3028473

Title: Complete sequence and structure of the gene for human adenosine deaminase.

PubMed ID: 3028473

DOI: 10.1021/bi00373a017

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 6688808

Title: Molecular cloning of human adenosine deaminase gene sequences.

PubMed ID: 6688808

DOI: 10.1016/s0021-9258(17)44027-0

PubMed ID: 8452534

Title: Demonstration of adenosine deaminase activity in human fibroblast lysosomes.

PubMed ID: 8452534

DOI: 10.1042/bj2900457

PubMed ID: 8101391

Title: Direct association of adenosine deaminase with a T cell activation antigen, CD26.

PubMed ID: 8101391

DOI: 10.1126/science.8101391

PubMed ID: 7907293

Title: Binding of adenosine deaminase to the lymphocyte surface via CD26.

PubMed ID: 7907293

DOI: 10.1002/eji.1830240311

PubMed ID: 10951221

Title: Molecular characterization of dipeptidyl peptidase activity in serum: soluble CD26/dipeptidyl peptidase IV is responsible for the release of X-Pro dipeptides.

PubMed ID: 10951221

DOI: 10.1046/j.1432-1327.2000.01634.x

PubMed ID: 11772392

Title: Regulation of epithelial and lymphocyte cell adhesion by adenosine deaminase-CD26 interaction.

PubMed ID: 11772392

DOI: 10.1042/0264-6021:3610203

PubMed ID: 15016824

Title: Cell surface adenosine deaminase binds and stimulates plasminogen activation on 1-LN human prostate cancer cells.

PubMed ID: 15016824

DOI: 10.1074/jbc.m401023200

PubMed ID: 14691230

Title: N-linked glycosylation of dipeptidyl peptidase IV (CD26): effects on enzyme activity, homodimer formation, and adenosine deaminase binding.

PubMed ID: 14691230

DOI: 10.1110/ps.03352504

PubMed ID: 16670267

Title: Endothelial catabolism of extracellular adenosine during hypoxia: the role of surface adenosine deaminase and CD26.

PubMed ID: 16670267

DOI: 10.1182/blood-2006-02-001016

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 20959412

Title: Adenosine deaminase potentiates the generation of effector, memory, and regulatory CD4+ T cells.

PubMed ID: 20959412

DOI: 10.1189/jlb.1009696

PubMed ID: 21919946

Title: Adenosine deaminase activity in fertile and infertile men.

PubMed ID: 21919946

DOI: 10.1111/j.1439-0272.2011.01231.x

PubMed ID: 23193172

Title: The catalytic site structural gate of adenosine deaminase allosterically modulates ligand binding to adenosine receptors.

PubMed ID: 23193172

DOI: 10.1096/fj.12-212621

PubMed ID: 26038697

Title: Inhibition of adenosine deaminase (ADA)-mediated metabolism of cordycepin by natural substances.

PubMed ID: 26038697

DOI: 10.1002/prp2.121

PubMed ID: 2166947

Title: Hot spot mutations in adenosine deaminase deficiency.

PubMed ID: 2166947

DOI: 10.1073/pnas.87.16.6171

PubMed ID: 8031011

Title: An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.

PubMed ID: 8031011

DOI: 10.1111/j.1469-1809.1994.tb00720.x

PubMed ID: 6208479

Title: Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.

PubMed ID: 6208479

DOI: 10.1128/mcb.4.9.1712-1717.1984

PubMed ID: 3839802

Title: Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

PubMed ID: 3839802

DOI: 10.1172/jci112050

PubMed ID: 3182793

Title: Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.

PubMed ID: 3182793

DOI: 10.1016/s0021-9258(18)37591-4

PubMed ID: 2783588

Title: Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

PubMed ID: 2783588

DOI: 10.1172/jci113909

PubMed ID: 1284479

Title: Identification of two new missense mutations (R156C and S291L) in two ADA-SCID patients unusual for response to therapy with partial exchange transfusions.

PubMed ID: 1284479

DOI: 10.1002/humu.1380010214

PubMed ID: 8227344

Title: 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.

PubMed ID: 8227344

DOI: 10.1172/jci116833

PubMed ID: 8299233

Title: Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).

PubMed ID: 8299233

DOI: 10.1006/clin.1994.1026

PubMed ID: 8589684

Title: 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.

PubMed ID: 8589684

DOI: 10.1093/hmg/4.11.2081

PubMed ID: 7599635

Title: Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.

PubMed ID: 7599635

DOI: 10.1002/humu.1380050309

PubMed ID: 9225964

Title: Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.

PubMed ID: 9225964

DOI: 10.1007/s004390050460

PubMed ID: 9361033

Title: An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

PubMed ID: 9361033

DOI: 10.1093/hmg/6.13.2271

PubMed ID: 10200056

Title: 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.

PubMed ID: 10200056

PubMed ID: 16221767

Title: A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans.

PubMed ID: 16221767

DOI: 10.1073/pnas.0505414102

PubMed ID: 18772397

Title: Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.

PubMed ID: 18772397

DOI: 10.1126/science.1164368

PubMed ID: 21734253

Title: Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans.

PubMed ID: 21734253

DOI: 10.1093/cercor/bhr173

PubMed ID: 26166670

Title: The Role of G22 A Adenosine Deaminase 1 Gene Polymorphism and the Activities of ADA Isoenzymes in Fertile and Infertile Men.

PubMed ID: 26166670

DOI: 10.1016/j.urology.2015.06.034

Sequence Information:

  • Length: 363
  • Mass: 40764
  • Checksum: 786BC5085CA9AFCB
  • Sequence:
    • MAQTPAFDKP KVELHVHLDG SIKPETILYY GRRRGIALPA NTAEGLLNVI GMDKPLTLPD 
FLAKFDYYMP AIAGCREAIK RIAYEFVEMK AKEGVVYVEV RYSPHLLANS KVEPIPWNQA 
EGDLTPDEVV ALVGQGLQEG ERDFGVKARS ILCCMRHQPN WSPKVVELCK KYQQQTVVAI 
DLAGDETIPG SSLLPGHVQA YQEAVKSGIH RTVHAGEVGS AEVVKEAVDI LKTERLGHGY 
HTLEDQALYN RLRQENMHFE ICPWSSYLTG AWKPDTEHAV IRLKNDQANY SLNTDDPLIF 
KSTLDTDYQM TKRDMGFTEE EFKRLNINAA KSSFLPEDEK RELLDLLYKA YGMPPSASAG 
QNL

Genular Protein ID: 440028438

Symbol: F5GWI4_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5GWI4

Database IDs:

ARBA 9 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 2 GO 7 Gene3D 1 GeneTree 1 HGNC 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 339
  • Mass: 38293
  • Checksum: 04B0ABF8FDAFF9BF
  • Sequence:
    • MAQTPAFDKP KVELHVHLDG SIKPETILYY GRRRGIALPA NTAEGLLNVI GMDKPLTLPD 
FLAKFDYYMP AIAGCREAIK RIAYEFVEMK AKEGVVYVEV RYSPHLLANS KVEPIPWNQA 
EGDLTPDEVV ALVGQGLQEG ERDFGVKARS ILCCMRHQPN WSPKVVELCK KYQQQTVVAI 
DLAGDETIPG SSLLPGHVQA YQAVDILKTE RLGHGYHTLE DQALYNRLRQ ENMHFEICPW 
SSYLTGAWKP DTEHAVIRLK NDQANYSLNT DDPLIFKSTL DTDYQMTKRD MGFTEEEFKR 
LNINAAKSSF LPEDEKRELL DLLYKAYGMP PSASAGQNL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.