{ "uniprot_canonical_ac": "P00813-1", "uniprot_ac": "P00813", "uniprot_id": "ADA_HUMAN", "mass": { "chemical_mass": 40764.0, "monoisotopic_mass": 40764.0 }, "refseq": { "ac": "NP_000013", "name": "adenosine deaminase isoform 1", "summary": "This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013" }, "gene_names": [ { "name": "ADA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00813", "id": "P00813" }, { "name": "ADA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013", "id": "NP_000013" }, { "name": "ADA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00813", "id": "P00813" }, { "name": "ADA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013", "id": "NP_000013" } ], "protein_names": [ { "name": "Adenosine deaminase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00813" }, { "name": "3.5.4.4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00813" }, { "name": "Adenosine aminohydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00813" }, { "name": "adenosine aminohydrolase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013", "id": "NP_000013" }, { "name": "adenosine deaminase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013", "id": "NP_000013" } ], "function": [ { "annotation": "Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:8452534, PubMed:16670267, PubMed:23193172, PubMed:9361033, PubMed:26166670). 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).", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813#function" }, { "database": "PubMed", "id": "20959412", "url": "https://glygen.org/publication/PubMed/20959412" }, { "database": "PubMed", "id": "9361033", "url": "https://glygen.org/publication/PubMed/9361033" }, { "database": "PubMed", "id": "16670267", "url": "https://glygen.org/publication/PubMed/16670267" }, { "database": "PubMed", "id": "8452534", "url": "https://glygen.org/publication/PubMed/8452534" }, { "database": "UniProtKB", "id": "P56658", "url": "https://www.uniprot.org/uniprot/P56658#function" }, { "database": "PubMed", "id": "26166670", "url": "https://glygen.org/publication/PubMed/26166670" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" }, { "database": "PubMed", "id": "11772392", "url": "https://glygen.org/publication/PubMed/11772392" }, { "database": "UniProtKB", "id": "P03958", "url": "https://www.uniprot.org/uniprot/P03958#function" }, { "database": "PubMed", "id": "21919946", "url": "https://glygen.org/publication/PubMed/21919946" }, { "database": "PubMed", "id": "15016824", "url": "https://glygen.org/publication/PubMed/15016824" } ] }, { "annotation": "Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013" }, { "database": "PubMed", "id": "37685949", "url": "https://glygen.org/publication/PubMed/37685949" } ] }, { "annotation": "Correlation of serum adenosine deaminase activity with disease activity in patients with primary Sjogren's syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_000013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013" }, { "database": "PubMed", "id": "37127120", "url": "https://glygen.org/publication/PubMed/37127120" } ] }, { "annotation": "Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.", "evidence": [ { "database": "RefSeq", "id": "NP_000013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013" }, { "database": "PubMed", "id": "37154862", "url": "https://glygen.org/publication/PubMed/37154862" } ] }, { "annotation": "Optimized expression and purification of a human adenosine deaminase in E. coli and characterization of its Asp8Asn variant.", "evidence": [ { "database": "RefSeq", "id": "NP_000013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013" }, { "database": "PubMed", "id": "37683902", "url": "https://glygen.org/publication/PubMed/37683902" } ] }, { "annotation": "The Activity of Adenosine Deaminase and Dipeptidyl Peptidase IV in Children With Attention Deficit Hyperactivity Disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_000013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013" }, { "database": "PubMed", "id": "37695015", "url": "https://glygen.org/publication/PubMed/37695015" } ] }, { "annotation": "This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019].", "evidence": [ { "database": "RefSeq", "id": "NP_000013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000013" } ] } ], "disease": [ { "disease_id": "DOID:5810", "recommended_name": { "id": "DOID:5810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5810", "name": "adenosine deaminase deficiency", "description": "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP." }, "synonyms": [ { "id": "DOID:5810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5810", "name": "ADA", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", "description": "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "ADA", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "ADA deficiency", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "ADA-SCID", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "SCID due to ADA deficiency", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "SCID due to ADA deficiency, early-onset", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "SCID due to adenosine deaminase deficiency", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "adenosine deaminase deficiency", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "adenosine deaminase deficient severe combined immunodeficiency", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "SCID due to ADA deficiency, delayed onset", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "SCID due to ADA deficiency, late-onset", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "adenosine deaminase deficiency, partial", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "partial ADA deficiency", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "severe combined immunodeficiency due to ADA deficiency", "description": "" }, { "id": "MONDO:0007064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007064", "name": "severe combined immunodeficiency due to adenosine deaminase deficiency", "description": "" }, { "id": "MIM:102700", "resource": "MIM", "url": "https://www.omim.org/entry/102700", "name": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency", "description": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency" } ], "evidence": [ { "id": "102700", "database": "MIM", "url": "https://www.omim.org/entry/102700" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 115, "end_pos": 115, "sequence_org": "I", "sequence_mut": "A", "comment": "No change in enzyme activity; no change in ADORA1 and ADORA2A modulation.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 118, "end_pos": 118, "sequence_org": "N", "sequence_mut": "A", "comment": "Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 155, "end_pos": 155, "sequence_org": "M", "sequence_mut": "A", "comment": "Decreases enzyme activity by reducing substrate affinity and maximum velocity.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 157, "end_pos": 157, "sequence_org": "H", "sequence_mut": "A", "comment": "Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 184, "end_pos": 184, "sequence_org": "G", "sequence_mut": "Q", "comment": "Moderately reduces enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 185, "end_pos": 185, "sequence_org": "D", "sequence_mut": "A", "comment": "Moderately reduces enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 194, "end_pos": 194, "sequence_org": "L", "sequence_mut": "A", "comment": "No change in enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 58, "end_pos": 58, "sequence_org": "L", "sequence_mut": "A", "comment": "Decreases enzyme activity by reducing substrate affinity and maximum velocity; abolishes ADORA1 and ADORA2A modulator function.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 60, "end_pos": 60, "sequence_org": "D", "sequence_mut": "A", "comment": "Moderately reduces enzyme activity; reduces ADORA1 and ADORA2A modulation.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 61, "end_pos": 61, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases enzyme activity by reducing maximum velocity; reduces ADORA1 modulation.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "L", "sequence_mut": "A", "comment": "Decreases enzyme activity by reducing substrate affinity and maximum velocity; abolishes ADORA1 and ADORA2A modulator function.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 64, "end_pos": 64, "sequence_org": "K", "sequence_mut": "A", "comment": "Moderately reduces enzyme activity; no change in ADORA1 and ADORA2A modulation.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 65, "end_pos": 65, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases enzyme activity by reducing substrate affinity and maximum velocity; reduces ADORA1 and ADORA2A modulation.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 66, "end_pos": 66, "sequence_org": "D", "sequence_mut": "A", "comment": "No change in enzyme activity; no change in ADORA1 and ADORA2A modulation.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] }, { "start_pos": 69, "end_pos": 69, "sequence_org": "M", "sequence_mut": "A", "comment": "Decreases enzyme activity by reducing maximum velocity; reduces ADORA2A modulation.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" }, { "database": "PubMed", "id": "23193172", "url": "https://glygen.org/publication/PubMed/23193172" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "65.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "72.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "72.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "68.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "76.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196839", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196839" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00813", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00813" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00813", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00813" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://www.uniprot.org/uniprot/F5GWI4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXW0", "url": "https://www.uniprot.org/uniprot/F5GXW0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXW0-1", "url": "https://www.uniprot.org/uniprot/F5GXW0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYD4", "url": "https://www.uniprot.org/uniprot/F5GYD4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYD4-1", "url": "https://www.uniprot.org/uniprot/F5GYD4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00813-1", "url": "https://www.uniprot.org/uniprot/P00813-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 363, "header": "sp|P00813-1|ADA_HUMAN Isoform 1 of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=3 CANONICAL=P00813-1" }, "isoforms": [ { "isoform_ac": "A0A0S2Z3B9-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 209, "header": "tr|A0A0S2Z3B9-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695991.1", "url": "https://www.ensembl.org/id/ENST00000695991.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512314.1", "url": "https://www.ensembl.org/id/ENSP00000512314.1" } ] } }, { "isoform_ac": "A0A0S2Z3T6-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIALWTYSRQSGWDTATTPWKTRPFITGCGRKTCTSRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 188, "header": "tr|A0A0S2Z3T6-1|A0A0S2Z3T6_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695889.1", "url": "https://www.ensembl.org/id/ENST00000695889.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512240.1", "url": "https://www.ensembl.org/id/ENSP00000512240.1" } ] } }, { "isoform_ac": "A0A8Q3SI46-1", "url": "", "sequence": { "sequence": "MSTPDRHLVLCPAPTECSVNGSSFVRQRYGGERQGAQVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 389, "header": "tr|A0A8Q3SI46-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651228, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695927.1", "url": "https://www.ensembl.org/id/ENST00000695927.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512270.1", "url": "https://www.ensembl.org/id/ENSP00000512270.1" } ] } }, { "isoform_ac": "A0A8Q3SI64-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 233, "header": "tr|A0A8Q3SI64-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695995.1", "url": "https://www.ensembl.org/id/ENST00000695995.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512318.1", "url": "https://www.ensembl.org/id/ENSP00000512318.1" } ] } }, { "isoform_ac": "A0A8Q3SI69-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEAQK", "length": 254, "header": "tr|A0A8Q3SI69-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44621139, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695994.1", "url": "https://www.ensembl.org/id/ENST00000695994.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512317.1", "url": "https://www.ensembl.org/id/ENSP00000512317.1" } ] } }, { "isoform_ac": "A0A8Q3SIA9-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGRSSFLVLVFYDFYNILGTTSCLIFLLL", "length": 386, "header": "tr|A0A8Q3SIA9-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619863, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696058.1", "url": "https://www.ensembl.org/id/ENST00000696058.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512361.1", "url": "https://www.ensembl.org/id/ENSP00000512361.1" } ] } }, { "isoform_ac": "A0A8Q3SIC0-1", "url": "", "sequence": { "sequence": "MSTPDRHLVLCPAPTECSVNGSSFVRQRYGGERQGAQVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 388, "header": "tr|A0A8Q3SIC0-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651228, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696082.1", "url": "https://www.ensembl.org/id/ENST00000696082.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512380.1", "url": "https://www.ensembl.org/id/ENSP00000512380.1" } ] } }, { "isoform_ac": "A0A8Q3SIC7-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGRSSFLVLVFYDFYNILGTTSCLIFLLL", "length": 387, "header": "tr|A0A8Q3SIC7-1|A0A8Q3SIC7_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619863, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695993.1", "url": "https://www.ensembl.org/id/ENST00000695993.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512316.1", "url": "https://www.ensembl.org/id/ENSP00000512316.1" } ] } }, { "isoform_ac": "A0A8Q3SIE4-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKTEFRSCCPGWSAMARPRLTATFASQVQVILLPQPPKWNCMST", "length": 53, "header": "tr|A0A8Q3SIE4-1|A0A8Q3SIE4_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44636270, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696059.1", "url": "https://www.ensembl.org/id/ENST00000696059.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512362.1", "url": "https://www.ensembl.org/id/ENSP00000512362.1" } ] } }, { "isoform_ac": "A0A8Q3SIG8-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAEPLKTPLLQAFTLWSHPNSVGLSNIFTFIPSKKTMISIVSY", "length": 400, "header": "tr|A0A8Q3SIG8-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619721, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696080.1", "url": "https://www.ensembl.org/id/ENST00000696080.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512379.1", "url": "https://www.ensembl.org/id/ENSP00000512379.1" } ] } }, { "isoform_ac": "A0A8Q3SIH0-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQHGQGRACRGPPARAPMTWLSPFQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 386, "header": "tr|A0A8Q3SIH0-1|A0A8Q3SIH0_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696060.1", "url": "https://www.ensembl.org/id/ENST00000696060.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512363.1", "url": "https://www.ensembl.org/id/ENSP00000512363.1" } ] } }, { "isoform_ac": "A0A8Q3SJ25-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIALWTYSRQSGWDTATTPWKTRPFITGCGRKTCTSRSAPGPATSLVPGSRTRSMQSFGSKMTRLTTRSTQMTRSSSSPPWTLITR", "length": 156, "header": "tr|A0A8Q3SJ25-1|A0A8Q3SJ25_HUMAN Computationally mapped isoform of adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44621065, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695891.1", "url": "https://www.ensembl.org/id/ENST00000695891.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512241.1", "url": "https://www.ensembl.org/id/ENSP00000512241.1" } ] } }, { "isoform_ac": "A0A8Q3SJ50-1", "url": "", "sequence": { "sequence": "XWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGRFLSGLLGSCPVLAPVWLSVGLLARCPSILGQRHECVMTPWFLGPGWEQRLIRSVCFL", "length": 235, "header": "tr|A0A8Q3SJ50-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44624329, "end_pos": 44620122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696005.1", "url": "https://www.ensembl.org/id/ENST00000696005.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512324.1", "url": "https://www.ensembl.org/id/ENSP00000512324.1" } ] } }, { "isoform_ac": "A0A8Q3SJ57-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIGLPGGYQKDRL", "length": 83, "header": "tr|A0A8Q3SJ57-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44626567, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696038.1", "url": "https://www.ensembl.org/id/ENST00000696038.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512344.1", "url": "https://www.ensembl.org/id/ENSP00000512344.1" } ] } }, { "isoform_ac": "A0A8Q3SJ63-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 362, "header": "tr|A0A8Q3SJ63-1|A0A8Q3SJ63_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696061.1", "url": "https://www.ensembl.org/id/ENST00000696061.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512364.1", "url": "https://www.ensembl.org/id/ENSP00000512364.1" } ] } }, { "isoform_ac": "A0A8Q3WKW4-1", "url": "", "sequence": { "sequence": "XLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAEPTSRAEPLKTPLLQAFTLWSHPNSVGLSNIFTFIPSKKTMISIVSY", "length": 125, "header": "tr|A0A8Q3WKW4-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44621147, "end_pos": 44619719, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695956.1", "url": "https://www.ensembl.org/id/ENST00000695956.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512285.1", "url": "https://www.ensembl.org/id/ENSP00000512285.1" } ] } }, { "isoform_ac": "A0A8Q3WKX5-1", "url": "", "sequence": { "sequence": "VELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAELVPQGGGAV", "length": 119, "header": "tr|A0A8Q3WKX5-1|A0A8Q3WKX5_HUMAN Computationally mapped isoform of adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44636288, "end_pos": 44624302, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696007.1", "url": "https://www.ensembl.org/id/ENST00000696007.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512326.1", "url": "https://www.ensembl.org/id/ENSP00000512326.1" } ] } }, { "isoform_ac": "A0A8Q3WKX8-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEAQK", "length": 239, "header": "tr|A0A8Q3WKX8-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44621139, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696006.1", "url": "https://www.ensembl.org/id/ENST00000696006.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512325.1", "url": "https://www.ensembl.org/id/ENSP00000512325.1" } ] } }, { "isoform_ac": "A0A8Q3WKY2-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGRFLSGLLGSCPVLAPVWLSVGLLARCPSILGQRHECVMTPWFLGPGWEQRLIRSVCFL", "length": 417, "header": "tr|A0A8Q3WKY2-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44620123, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696017.1", "url": "https://www.ensembl.org/id/ENST00000696017.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512333.1", "url": "https://www.ensembl.org/id/ENSP00000512333.1" } ] } }, { "isoform_ac": "A0A8Q3WKZ1-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQHGQGRACRGPPARAPMTWLSPFQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGRFLSGLLGSCPVLAPVWLSVGLLARCPSILGQRHECVMTPWFLGPGWEQRLIRSVCFL", "length": 441, "header": "tr|A0A8Q3WKZ1-1|A0A8Q3WKZ1_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44620123, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696076.1", "url": "https://www.ensembl.org/id/ENST00000696076.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512375.1", "url": "https://www.ensembl.org/id/ENSP00000512375.1" } ] } }, { "isoform_ac": "A0A8Q3WKZ4-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKTEFRSCCPGWSAMARPRLTATFASQVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 388, "header": "tr|A0A8Q3WKZ4-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696063.1", "url": "https://www.ensembl.org/id/ENST00000696063.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512366.1", "url": "https://www.ensembl.org/id/ENSP00000512366.1" } ] } }, { "isoform_ac": "A0A8Q3WKZ5-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 338, "header": "tr|A0A8Q3WKZ5-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695949.1", "url": "https://www.ensembl.org/id/ENST00000695949.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512281.1", "url": "https://www.ensembl.org/id/ENSP00000512281.1" } ] } }, { "isoform_ac": "A0A8Q3WKZ6-1", "url": "", "sequence": { "sequence": "MDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 312, "header": "tr|A0A8Q3WKZ6-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44629111, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536076.2", "url": "https://www.ensembl.org/id/ENST00000536076.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000512234.1", "url": "https://www.ensembl.org/id/ENSP00000512234.1" } ] } }, { "isoform_ac": "A0A8Q3WKZ9-1", "url": "", "sequence": { "sequence": "MSSPPPPTPDELLQVLQATAGPPRKFLNYTIMVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 384, "header": "tr|A0A8Q3WKZ9-1|A0A8Q3WKZ9_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44652195, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696062.1", "url": "https://www.ensembl.org/id/ENST00000696062.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512365.1", "url": "https://www.ensembl.org/id/ENSP00000512365.1" } ] } }, { "isoform_ac": "A0A8Q3WL01-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 362, "header": "tr|A0A8Q3WL01-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696078.1", "url": "https://www.ensembl.org/id/ENST00000696078.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512377.1", "url": "https://www.ensembl.org/id/ENSP00000512377.1" } ] } }, { "isoform_ac": "A0A8Q3WL06-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAELWTYSRQSGWDTATTPWKTRPFITGCGRKTCTSRSAPGPATSLVPGSRTRSMQSFGSKMTRLTTRSTQMTRSSSSPPWTLITR", "length": 204, "header": "tr|A0A8Q3WL06-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44621065, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696104.1", "url": "https://www.ensembl.org/id/ENST00000696104.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512399.1", "url": "https://www.ensembl.org/id/ENSP00000512399.1" } ] } }, { "isoform_ac": "A0A8Q3WL32-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGSQLQARSGTVRTWRPQH", "length": 48, "header": "tr|A0A8Q3WL32-1|A0A8Q3WL32_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44636058, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696075.1", "url": "https://www.ensembl.org/id/ENST00000696075.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512374.1", "url": "https://www.ensembl.org/id/ENSP00000512374.1" } ] } }, { "isoform_ac": "A0A8Q3WLJ0-1", "url": "", "sequence": { "sequence": "MDKPLTLPDFLAKFDYYMPAIALWTYSRQSGWDTATTPWKTRPFITGCGRKTCTSRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 137, "header": "tr|A0A8Q3WLJ0-1|A0A8Q3WLJ0_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44629111, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696065.1", "url": "https://www.ensembl.org/id/ENST00000696065.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512368.1", "url": "https://www.ensembl.org/id/ENSP00000512368.1" } ] } }, { "isoform_ac": "A0A8Q3WLK2-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNDVLNGPPFPHLRMGISLP", "length": 178, "header": "tr|A0A8Q3WLK2-1|A0A8Q3WLK2_HUMAN Computationally mapped isoform of adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44624670, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696105.1", "url": "https://www.ensembl.org/id/ENST00000696105.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512400.1", "url": "https://www.ensembl.org/id/ENSP00000512400.1" } ] } }, { "isoform_ac": "A0A8Q3WM09-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 361, "header": "tr|A0A8Q3WM09-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696077.1", "url": "https://www.ensembl.org/id/ENST00000696077.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512376.1", "url": "https://www.ensembl.org/id/ENSP00000512376.1" } ] } }, { "isoform_ac": "A0A8Q3WM58-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAELVPQGGGAV", "length": 130, "header": "tr|A0A8Q3WM58-1|A0A8Q3WM58_HUMAN Computationally mapped isoform of adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44624302, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695957.1", "url": "https://www.ensembl.org/id/ENST00000695957.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512286.1", "url": "https://www.ensembl.org/id/ENSP00000512286.1" } ] } }, { "isoform_ac": "A0A8Q3WM84-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAEPLKTPLLQAFTLWSHPNSVGLSNIFTFIPSKKTMISIVSY", "length": 399, "header": "tr|A0A8Q3WM84-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619721, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696079.1", "url": "https://www.ensembl.org/id/ENST00000696079.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512378.1", "url": "https://www.ensembl.org/id/ENSP00000512378.1" } ] } }, { "isoform_ac": "F5GWI4-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 339, "header": "tr|F5GWI4-1|ADA_HUMAN Computationally mapped isoform of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537820.2", "url": "https://www.ensembl.org/id/ENST00000537820.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000441818.1", "url": "https://www.ensembl.org/id/ENSP00000441818.1" } ] } }, { "isoform_ac": "F5GXW0-1", "url": "", "sequence": { "sequence": 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isoform of adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=1 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44623072, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539235.6", "url": "https://www.ensembl.org/id/ENST00000539235.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000446464.1", "url": "https://www.ensembl.org/id/ENSP00000446464.1" } ] } }, { "isoform_ac": "P00813-1", "url": "", "sequence": { "sequence": "MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL", "length": 363, "header": "sp|P00813-1|ADA_HUMAN Isoform 1 of Adenosine deaminase OS=Homo sapiens OX=9606 GN=ADA PE=1 SV=3 CANONICAL=P00813-1" }, "locus": { "chromosome": "20", "start_pos": 44651607, "end_pos": 44619837, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372874.9", "url": "https://www.ensembl.org/id/ENST00000372874.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000361965.4", "url": "https://www.ensembl.org/id/ENSP00000361965.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P00813", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00813" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "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. Mutations in brief no. 142. Online.", "journal": "Human mutation", "date": "1998", "authors": "Arrendondo-Vega FX, Santisteban I, Notarangelo LD, El Dahr J, Buckley R, Roifman C, Conley ME, Hershfield MS", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "10200056", "url": "https://glygen.org/publication/PubMed/10200056" } ] }, { "title": "Molecular characterization of dipeptidyl peptidase activity in serum: soluble CD26/dipeptidyl peptidase IV is responsible for the release of X-Pro dipeptides.", "journal": "Eur. J. Biochem.", "date": "2000", "authors": "Durinx C, Lambeir A M, Bosmans E, Falmagne J B, Berghmans R, Haemers A, Scharp\u00e9 S, De Meester I", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "10951221", "url": "https://glygen.org/publication/PubMed/10951221" } ] }, { "title": "Structural basis for substrate specificities of cellular deoxyribonucleoside kinases.", "journal": "Nature structural biology", "date": "2001", "authors": "Johansson K, Ramaswamy S, Ljungcrantz C, Knecht W, Piskur J, Munch-Petersen B, Eriksson S, Eklund H", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "11427893", "url": "https://glygen.org/publication/PubMed/11427893" } ] }, { "title": "Regulation of epithelial and lymphocyte cell adhesion by adenosine deaminase-CD26 interaction.", "journal": "The Biochemical journal", "date": "2002-01-15", "authors": "Gin\u00e9s Silvia, Mari\u00f1o Marta, Mallol Josefa, Canela Enric I, Morimoto Chikao, Callebaut Christian, Hovanessian Ara, Casad\u00f3 Vicent, Lluis Carmen, Franco Rafael", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "11772392", "url": "https://glygen.org/publication/PubMed/11772392" } ] }, { "title": "NADPH-dependent GMP reductase isoenzyme of human (GMPR2). Expression, purification, and kinetic properties.", "journal": "The international journal of biochemistry & cell biology", "date": "2002", "authors": "Deng Y, Wang Z, Ying K, Gu S, Ji C, Huang Y, Gu X, Wang Y, Xu Y, Li Y, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "12009299", "url": "https://glygen.org/publication/PubMed/12009299" } ] }, { "title": "Activation and deactivation of a broad-spectrum antiviral drug by a single enzyme: adenosine deaminase catalyzes two consecutive deamination reactions.", "journal": "Antimicrobial agents and chemotherapy", "date": "2003", "authors": "Wu JZ, Walker H, Lau JY, Hong Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "12499231", "url": "https://glygen.org/publication/PubMed/12499231" } ] }, { "title": "Structural analysis of the activation of ribavirin analogs by NDP kinase: comparison with other ribavirin targets.", "journal": "Molecular pharmacology", "date": "2003", "authors": "Gallois-Montbrun S, Chen Y, Dutartre H, Sophys M, Morera S, Guerreiro C, Schneider B, Mulard L, Janin J, Veron M, Deville-Bonne D, Canard B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "12606760", "url": "https://glygen.org/publication/PubMed/12606760" } ] }, { "title": "Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.", "journal": "Human mutation", "date": "1992", "authors": "Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "1284479", "url": "https://glygen.org/publication/PubMed/1284479" } ] }, { "title": "Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Bausch-Jurken MT, Mahnke-Zizelman DK, Morisaki T, Sabina RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "1429593", "url": "https://glygen.org/publication/PubMed/1429593" } ] }, { "title": "N-linked glycosylation of dipeptidyl peptidase IV (CD26): effects on enzyme activity, homodimer formation, and adenosine deaminase binding.", "journal": "Protein Sci.", "date": "2004", "authors": "Aertgeerts K, Ye S, Shi L, Prasad SG, Witmer D, Chi E, Sang BC, Wijnands RA, Webb DR, Swanson RV", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "14691230", "url": "https://glygen.org/publication/PubMed/14691230" } ] }, { "title": "Cell surface 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Biol.", "date": "1984", "authors": "Adrian G S, Wiginton D A, Hutton J J", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "6208479", "url": "https://glygen.org/publication/PubMed/6208479" } ] }, { "title": "Effects of mutational loss of adenosine kinase and deoxycytidine kinase on deoxyATP accumulation and deoxyadenosine toxicity in cultured CEM human T-lymphoblastoid cells.", "journal": "The Journal of biological chemistry", "date": "1982", "authors": "Hershfield MS, Fetter JE, Small WC, Bagnara AS, Williams SR, Ullman B, Martin DW Jr, Wasson DB, Carson DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "6281270", "url": "https://glygen.org/publication/PubMed/6281270" } ] }, { "title": "Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1983", "authors": "Jolly DJ, Okayama H, Berg P, Esty AC, Filpula D, Bohlen P, Johnson GG, Shively JE, Hunkapillar T, Friedmann T", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "6300847", "url": "https://glygen.org/publication/PubMed/6300847" } ] }, { "title": "Sequence of human adenosine deaminase cDNA including the coding region and a small intron.", "journal": "Nucleic Acids Res.", "date": "1984", "authors": "Wiginton D A, Adrian G S, Hutton J J", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "6546794", "url": "https://glygen.org/publication/PubMed/6546794" } ] }, { "title": "Molecular cloning of human adenosine deaminase gene sequences.", "journal": "J. Biol. Chem.", "date": "1983", "authors": "Orkin S H, Daddona P E, Shewach D S, Markham A F, Bruns G A, Goff S C, Kelley W N", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "6688808", "url": "https://glygen.org/publication/PubMed/6688808" } ] }, { "title": "Characterization of purine nucleoside phosphorylase from human granulocytes and its metabolism of deoxyribonucleosides.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Wiginton DA, Coleman MS, Hutton JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "6771276", "url": "https://glygen.org/publication/PubMed/6771276" } ] }, { "title": "Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.", "journal": "Human mutation", "date": "1995", "authors": "Santisteban I, Arredondo-Vega FX, Kelly S, Debre M, Fischer A, Perignon JL, Hilman B, elDahr J, Dreyfus DH, Gelfand EW, et al.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "7599635", "url": "https://glygen.org/publication/PubMed/7599635" } ] }, { "title": "Binding of adenosine deaminase to the lymphocyte surface via CD26.", "journal": "Eur. J. Immunol.", "date": "1994", "authors": "De Meester I, Vanham G, Kestens L, Vanhoof G, Bosmans E, Gigase P, Scharp\u00e9 S", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "7907293", "url": "https://glygen.org/publication/PubMed/7907293" } ] }, { "title": "An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.", "journal": "Annals of human genetics", "date": "1994", "authors": "Hirschhorn R, Yang DR, Israni A", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "8031011", "url": "https://glygen.org/publication/PubMed/8031011" } ] }, { "title": "Direct association of adenosine deaminase with a T cell activation antigen, CD26.", "journal": "Science", "date": "1993", "authors": "Kameoka J, Tanaka T, Nojima Y, Schlossman S F, Morimoto C", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "8101391", "url": "https://glygen.org/publication/PubMed/8101391" } ] }, { "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.", "journal": "The Journal of clinical investigation", "date": "1993", "authors": "Santisteban I, Arredondo-Vega FX, Kelly S, Mary A, Fischer A, Hummell DS, Lawton A, Sorensen RU, Stiehm ER, Uribe L, et al.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "8227344", "url": "https://glygen.org/publication/PubMed/8227344" } ] }, { "title": "Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).", "journal": "Clinical immunology and immunopathology", "date": "1994", "authors": "Yang DR, Huie ML, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "8299233", "url": "https://glygen.org/publication/PubMed/8299233" } ] }, { "title": "Demonstration of adenosine deaminase activity in human fibroblast lysosomes.", "journal": "The Biochemical journal", "date": "1993-03-01", "authors": "Lindley E R, Pisoni R L", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "8452534", "url": "https://glygen.org/publication/PubMed/8452534" } ] }, { "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.", "journal": "Human molecular genetics", "date": "1995", "authors": "Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML, et al.", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "8589684", "url": "https://glygen.org/publication/PubMed/8589684" } ] }, { "title": "Cellular phosphorylation of anti-HIV nucleosides. Role of nucleoside diphosphate kinase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Bourdais J, Biondi R, Sarfati S, Guerreiro C, Lascu I, Janin J, Veron M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "8626464", "url": "https://glygen.org/publication/PubMed/8626464" } ] }, { "title": "Cloning and expression of human deoxyguanosine kinase cDNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Johansson M, Karlsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-74217", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74217" } ], "reference": [ { "type": "PubMed", "id": "8692979", "url": "https://glygen.org/publication/PubMed/8692979" } ] }, { "title": "Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.", "journal": "Human genetics", "date": "1997", "authors": "Hirschhorn R, Borkowsky W, Jiang CK, Yang DR, Jenkins T", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "9225964", "url": "https://glygen.org/publication/PubMed/9225964" } ] }, { "title": "An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.", "journal": "Human molecular genetics", "date": "1997", "authors": "Jiang C, Hong R, Horowitz SD, Kong X, Hirschhorn R", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "reference": [ { "type": "PubMed", "id": "9361033", "url": "https://glygen.org/publication/PubMed/9361033" } ] }, { "title": "Ribavirin uptake by human erythrocytes 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"P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "response to purine-containing compound", "id": "GO:0014074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014074", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "purine-containing compound salvage", "id": "GO:0043101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043101", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle contraction", "id": "GO:0045987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045987", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "inosine biosynthetic process", "id": "GO:0046103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046103", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "negative regulation of leukocyte migration", "id": "GO:0002686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002686", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "adenosine metabolic process", "id": "GO:0046085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046085", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "negative regulation of mucus secretion", "id": "GO:0070256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070256", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation in thymus", "id": "GO:0033089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033089", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "trophectodermal cell differentiation", "id": "GO:0001829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001829", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "germinal center B cell differentiation", "id": "GO:0002314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002314", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "positive regulation of germinal center formation", "id": "GO:0002636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002636", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "negative regulation of mature B cell apoptotic process", "id": "GO:0002906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002906", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "deoxyadenosine catabolic process", "id": "GO:0006157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006157", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "purine nucleotide salvage", "id": "GO:0032261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032261", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion mediated by integrin", "id": "GO:0033632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033632", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "hypoxanthine salvage", "id": "GO:0043103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043103", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "dATP catabolic process", "id": "GO:0046061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046061", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "xanthine biosynthetic process", "id": "GO:0046111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046111", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell differentiation", "id": "GO:0046638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046638", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "Peyer's patch development", "id": "GO:0048541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048541", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "positive regulation of T cell receptor signaling pathway", "id": "GO:0050862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050862", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "negative regulation of adenosine receptor signaling pathway", "id": "GO:0060169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060169", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "negative regulation of penile erection", "id": "GO:0060407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060407", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "negative regulation of thymocyte apoptotic process", "id": "GO:0070244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070244", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "AMP catabolic process", "id": "GO:0006196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006196", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "alpha-beta T cell differentiation", "id": "GO:0046632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046632", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "mucus secretion", "id": "GO:0070254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070254", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "AMP salvage", "id": "GO:0044209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044209", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "response to inorganic substance", "id": "GO:0010035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010035", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "germinal center formation", "id": "GO:0002467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002467", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "thymocyte apoptotic process", "id": "GO:0070242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070242", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "allantoin metabolic process", "id": "GO:0000255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000255", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "penile erection", "id": "GO:0043084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043084", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "amide catabolic process", "id": "GO:0043605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043605", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "GMP salvage", "id": "GO:0032263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032263", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "dAMP catabolic process", "id": "GO:0046059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046059", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" }, { "name": "mature B cell apoptotic process", "id": "GO:0002901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002901", "evidence": [ { "database": "UniProtKB", "id": "P00813", "url": "https://www.uniprot.org/uniprot/P00813" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 160, "end_pos": 162, "annotation": "n_glycosylation_sequon" }, { "start_pos": 289, "end_pos": 291, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "24408", "name": "", "equation": "adenosine + H(+) + H2O = inosine + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q920P6-1", "P00813-1", "Q9NZK5-1", "Q8IV20-1", "P03958-1", "Q8BZT9-1", "Q553U5-1", "Q54KF3-1", "Q8IQR3-1", "Q9VVK5-1", "Q9VFS1-1", "Q9VVK4-1", "Q7KGG1-1", "Q9VFS0-1" ], "evidence": [ { "id": "24408", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24408" } ] }, { "id": "28190", "name": "", "equation": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q920P6-1", "P00813-1", "P03958-1" ], "evidence": [ { "id": "28190", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/28190" } ] }, { "id": "R-HSA-74241", "name": "ADA catalyzes the deamination of (deoxy)adenosine", "equation": "", "summary": "Cytosolic adenosine deaminase (ADA) catalyzes the hydrolysis of 2'deoxyadenosine and adenosine to yield deoxyinosine and inosine, respectively, plus ammonia (Akeson et al. 1988). Unpublished crystallographic data (PDB 3IAR) indicate that the human enzyme is a monomer.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00813-1" ], "evidence": [ { "id": "R-HSA-74241", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74241" } ] }, { "id": "R-HSA-9734745", "name": "Defective ADA does not deaminate (deoxy)adenosine", "equation": "", "summary": "Normally in humans, adenosine and deoxyadenosine can be deaminated to inosine and deoxyinosine, catalyzed by ADA (adenosine deaminase). In the absence of ADA activity, however, accumulated nucleosides disrupt lymphoid cell function, leading to severe combined immunodeficiency. Here, we have annotated the failure of normal adenosine and deoxyadenosine deamination due to three missense mutant alleles of ADA, identified in patients with severe combined immunodeficiency and shown to encode unstable or catalytically inactive forms of ADA protein (Hirschhorn et al. 1989, 1990).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00813-1" ], "evidence": [ { "id": "R-HSA-9734745", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9734745" } ] }, { "id": "R-HSA-9754964", "name": "ADA deamidates RBV", "equation": "", "summary": "Ribavirin (RBV) undergoes hydrolytic deamination to its carboxylic acid derivative (RBV-COOH, ICN3297), which does not possess any antiviral activity. The reaction is catalyzed by adenosine deaminase (ADA). As the amount of detectable RBV-COOH is low, deamination is not important in RBV catabolism (Miller et al, 1977; Wu et al, 2003).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-9755025" ], "enzyme_list": [ "P00813-1" ], "evidence": [ { "id": "R-HSA-9754964", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9754964" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-9755025", "participant_name": "RBV-COOH [cytosol]", "crossref": [ { "id": "189551", "database": "ChEBI", "url": "" }, { "id": "189551", "database": "ChEBI", "url": "" }, { "id": "189551", "database": "ChEBI", "url": "" }, { "id": "189551", "database": "ChEBI", "url": "" }, { "id": "189551", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P00813", "gene_name": "ADA", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "P00813", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00813" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "P00813", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00813" } ] } ] }, { "uniprot_ac": "P03958", "gene_name": "Ada", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "P03958", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03958" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "P03958", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03958" } ] } ] }, { "uniprot_ac": "Q54KF3", "gene_name": "ada", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q54KF3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KF3" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q54KF3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54KF3" } ] } ] }, { "uniprot_ac": "Q553U5", "gene_name": "ADA2", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q553U5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q553U5" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q553U5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q553U5" } ] } ] }, { "uniprot_ac": "Q7KGG1", "gene_name": "Adgf-E", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q7KGG1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KGG1" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q7KGG1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KGG1" } ] } ] }, { "uniprot_ac": "Q8BZT9", "gene_name": "Lacc1", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q8BZT9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZT9" } ] }, { "ec_number": "2.4.2.1", "activity": "a purine 2'-deoxy-D-ribonucleoside + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + a purine nucleobase.", "evidence": [ { "id": "Q8BZT9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZT9" } ] }, { "ec_number": "2.4.2.28", "activity": "phosphate + S-methyl-5'-thioadenosine = adenine + S-methyl-5-thio-alpha-D-ribose 1-phosphate.", "evidence": [ { "id": "Q8BZT9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZT9" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "Q8BZT9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BZT9" } ] } ] }, { "uniprot_ac": "Q8IQR3", "gene_name": "Adgf-A2", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q8IQR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IQR3" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q8IQR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IQR3" } ] } ] }, { "uniprot_ac": "Q8IV20", "gene_name": "LACC1", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q8IV20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IV20" } ] }, { "ec_number": "2.4.2.1", "activity": "a purine 2'-deoxy-D-ribonucleoside + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + a purine nucleobase.", "evidence": [ { "id": "Q8IV20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IV20" } ] }, { "ec_number": "2.4.2.28", "activity": "phosphate + S-methyl-5'-thioadenosine = adenine + S-methyl-5-thio-alpha-D-ribose 1-phosphate.", "evidence": [ { "id": "Q8IV20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IV20" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "Q8IV20", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IV20" } ] } ] }, { "uniprot_ac": "Q920P6", "gene_name": "Ada", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q920P6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q920P6" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q920P6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q920P6" } ] } ] }, { "uniprot_ac": "Q9NZK5", "gene_name": "ADA2", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q9NZK5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NZK5" } ] } ] }, { "uniprot_ac": "Q9VFS0", "gene_name": "Adgf-C", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q9VFS0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VFS0" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q9VFS0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VFS0" } ] } ] }, { "uniprot_ac": "Q9VFS1", "gene_name": "Adgf-D", "activity": [ { "ec_number": "3.5.4.4", "activity": "2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+).", "evidence": [ { "id": "Q9VFS1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VFS1" } ] }, { "ec_number": "3.5.4.4", "activity": "", "evidence": [ { "id": "Q9VFS1", "database": 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"cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 160, "end_pos": 162 }, { "start_pos": 289, "end_pos": 291 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 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