{ "uniprot_canonical_ac": "P06280-1", "uniprot_ac": "P06280", "uniprot_id": "AGAL_HUMAN", "mass": { "chemical_mass": 48767.0, "monoisotopic_mass": 48767.0 }, "refseq": { "ac": "NP_000160", "name": "alpha-galactosidase A isoform b precursor", "summary": "This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160" }, "gene_names": [ { "name": "GLA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P06280", "id": "P06280" }, { "name": "GALA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160", "id": "NP_000160" }, { "name": "GLA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160", "id": "NP_000160" } ], "protein_names": [ { "name": "Alpha-galactosidase A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P06280" }, { "name": "3.2.1.22", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06280" }, { "name": "Alpha-D-galactosidase A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06280" }, { "name": "Alpha-D-galactoside galactohydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06280" }, { "name": "Galactosylgalactosylglucosylceramidase GLA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06280" }, { "name": "Melibiase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06280" }, { "name": "alpha-D-galactosidase A; alpha-gal A; melibiase; alpha-D-galactoside galactohydrolase 1; agalsidase alfa; alpha-galactosidase A; galactosylgalactosylglucosylceramidase GLA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160", "id": "NP_000160" }, { "name": "alpha-galactosidase A isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160", "id": "NP_000160" } ], "function": [ { "annotation": "All reported non-canonical splice site variants in GLA cause aberrant splicing.", "evidence": [ { "database": "RefSeq", "id": "NP_000160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160" }, { "database": "PubMed", "id": "37254000", "url": "https://glygen.org/publication/PubMed/37254000" } ] }, { "annotation": "C.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160" }, { "database": "PubMed", "id": "37774431", "url": "https://glygen.org/publication/PubMed/37774431" } ] }, { "annotation": "Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome.", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280#function" }, { "database": "PubMed", "id": "8804427", "url": "https://glygen.org/publication/PubMed/8804427" }, { "database": "PubMed", "id": "10838196", "url": "https://glygen.org/publication/PubMed/10838196" } ] }, { "annotation": "Enzymatic properties and clinical associations of serum alpha-galactosidase A in Parkinson's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160" }, { "database": "PubMed", "id": "37496179", "url": "https://glygen.org/publication/PubMed/37496179" } ] }, { "annotation": "Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.", "evidence": [ { "database": "RefSeq", "id": "NP_000160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160" }, { "database": "PubMed", "id": "38047356", "url": "https://glygen.org/publication/PubMed/38047356" } ] }, { "annotation": "Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.", "evidence": [ { "database": "RefSeq", "id": "NP_000160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160" }, { "database": "PubMed", "id": "37097439", "url": "https://glygen.org/publication/PubMed/37097439" } ] }, { "annotation": "This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160" } ] } ], "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease 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Pathway" ] }, { "id": "48020", "url": "https://www.rhea-db.org/rhea/48020", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P06280", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A3B3IRU3", "url": "https://www.uniprot.org/uniprot/A0A3B3IRU3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IRU3-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IRU3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IUC4", "url": "https://www.uniprot.org/uniprot/A0A3B3IUC4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IUC4-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IUC4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A669KB83", "url": "https://www.uniprot.org/uniprot/A0A669KB83", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A669KB83-1", "url": "https://www.uniprot.org/uniprot/A0A669KB83-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFA9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFA9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFA9-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFA9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGG0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGG0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGG0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGG0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHD1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHD1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHD1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHD1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHM8", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHM8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHM8-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHM8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QW02", "url": "https://www.uniprot.org/uniprot/A0AA34QW02", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AA34QW02-1", "url": "https://www.uniprot.org/uniprot/A0AA34QW02-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06280-1", "url": "https://www.uniprot.org/uniprot/P06280-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYN5", "url": "https://www.uniprot.org/uniprot/V9GYN5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYN5-1", "url": "https://www.uniprot.org/uniprot/V9GYN5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL", "length": 429, "header": "sp|P06280-1|AGAL_HUMAN Isoform 1 of Alpha-galactosidase A OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=1 CANONICAL=P06280-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IRU3-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADAQLYRNPTVLQSLAKFC", "length": 199, "header": "tr|A0A3B3IRU3-1|AGAL_HUMAN Computationally mapped isoform of Alpha-galactosidase A OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=1 CANONICAL=P06280-1" }, "locus": { "chromosome": "X", "start_pos": 101407903, "end_pos": 101398897, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000480513.6", "url": "https://www.ensembl.org/id/ENST00000480513.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000497055.1", "url": "https://www.ensembl.org/id/ENSP00000497055.1" } ] } }, { "isoform_ac": "A0A3B3IUC4-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHDLGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL", "length": 470, "header": "tr|A0A3B3IUC4-1|AGAL_HUMAN Computationally mapped isoform of Alpha-galactosidase A OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=1 CANONICAL=P06280-1" }, "locus": { "chromosome": "X", "start_pos": 101407903, "end_pos": 101397812, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649178.1", "url": "https://www.ensembl.org/id/ENST00000649178.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498186.1", "url": "https://www.ensembl.org/id/ENSP00000498186.1" } ] } }, { "isoform_ac": "A0A669KB83-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGESRLSIGHRERSIFIPAFPQYTHHLCTTSSEQSQQSGRL", "length": 222, "header": "tr|A0A669KB83-1|A0A669KB83_HUMAN Computationally mapped isoform of Alpha-galactosidase OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=2 CANONICAL=P06280-1" }, "locus": {} }, { "isoform_ac": "A0A6Q8PFA9-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL", "length": 417, "header": "tr|A0A6Q8PFA9-1|AGAL_HUMAN Computationally mapped isoform of Alpha-galactosidase A OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=1 CANONICAL=P06280-1" }, "locus": { "chromosome": "X", "start_pos": 101407903, "end_pos": 101397812, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676156.1", "url": "https://www.ensembl.org/id/ENST00000676156.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501730.1", "url": "https://www.ensembl.org/id/ENSP00000501730.1" } ] } }, { "isoform_ac": "A0A6Q8PGG0-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL", "length": 363, "header": "tr|A0A6Q8PGG0-1|AGAL_HUMAN Computationally mapped isoform of Alpha-galactosidase A OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=1 CANONICAL=P06280-1" }, "locus": { "chromosome": "X", "start_pos": 101407903, "end_pos": 101397812, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675592.1", "url": "https://www.ensembl.org/id/ENST00000675592.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502239.1", "url": "https://www.ensembl.org/id/ENSP00000502239.1" } ] } }, { "isoform_ac": "A0A6Q8PHD1-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQVNKSIYFKMALYTQYQLCLGPKSIFFPCS", "length": 362, "header": "tr|A0A6Q8PHD1-1|AGAL_HUMAN Computationally mapped isoform of Alpha-galactosidase A OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=2 CANONICAL=P06280-1" }, "locus": { "chromosome": "X", "start_pos": 101407903, "end_pos": 101398283, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674634.2", "url": "https://www.ensembl.org/id/ENST00000674634.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000502629.2", "url": "https://www.ensembl.org/id/ENSP00000502629.2" } ] } }, { "isoform_ac": "A0A6Q8PHM8-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMVKT", "length": 270, "header": "tr|A0A6Q8PHM8-1|AGAL_HUMAN Computationally mapped isoform of Alpha-galactosidase A OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=1 CANONICAL=P06280-1" }, "locus": { "chromosome": "X", "start_pos": 101407903, "end_pos": 101398776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676372.1", "url": "https://www.ensembl.org/id/ENST00000676372.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502805.1", "url": "https://www.ensembl.org/id/ENSP00000502805.1" } ] } }, { "isoform_ac": "A0AA34QW02-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHDLGSPQPPPPSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL", "length": 454, "header": "tr|A0AA34QW02-1|AGAL_HUMAN Computationally mapped isoform of Alpha-galactosidase A OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=1 CANONICAL=P06280-1" }, "locus": {} }, { "isoform_ac": "P06280-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL", "length": 429, "header": "sp|P06280-1|AGAL_HUMAN Isoform 1 of Alpha-galactosidase A OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=1 CANONICAL=P06280-1" }, "locus": { "chromosome": "X", "start_pos": 101407903, "end_pos": 101397812, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000218516.4", "url": "https://www.ensembl.org/id/ENST00000218516.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000218516.4", "url": "https://www.ensembl.org/id/ENSP00000218516.4" } ] } }, { "isoform_ac": "V9GYN5-1", "url": "", "sequence": { "sequence": "MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKSSTLFGSIC", "length": 222, "header": "tr|V9GYN5-1|V9GYN5_HUMAN Computationally mapped isoform of Alpha-galactosidase OS=Homo sapiens OX=9606 GN=GLA PE=1 SV=1 CANONICAL=P06280-1" }, "locus": { "chromosome": "X", "start_pos": 101407903, "end_pos": 101399774, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000493905.6", "url": "https://www.ensembl.org/id/ENST00000493905.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000476935.1", "url": "https://www.ensembl.org/id/ENSP00000476935.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G11870QZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 139, "start_aa": "Asn", "end_pos": 139, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn139", "evidence": [ { "id": "1005", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1005" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G12313PD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 139, "start_aa": "Asn", "end_pos": 139, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn139", "evidence": [ { "id": "1005", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1005" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G15169WU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 139, "start_aa": "Asn", "end_pos": 139, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn139", "evidence": [ { "id": "1005", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1005" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G47012YE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 139, "start_aa": "Asn", "end_pos": 139, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn139", "evidence": [ { "id": "1005", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1005" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 139, "start_aa": "Asn", "end_pos": 139, "end_aa": "Asn", 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"reference": [ { "type": "PubMed", "id": "9105656", "url": "https://glygen.org/publication/PubMed/9105656" } ] }, { "title": "Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A.", "journal": "Biochimica et biophysica acta", "date": "1997-06-20", "authors": "Yadao F, Hechtman P, Kaplan F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "9217013", "url": "https://glygen.org/publication/PubMed/9217013" } ] }, { "title": "Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.", "journal": "Human mutation", "date": "1997", "authors": "Wenger DA, Rafi MA, Luzi P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "9338580", "url": 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"UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "oligosaccharide metabolic process", "id": "GO:0009311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009311", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "glycoside catabolic process", "id": "GO:0016139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016139", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "glycosylceramide catabolic process", "id": "GO:0046477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046477", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "glycosphingolipid catabolic process", "id": "GO:0046479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046479", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "negative regulation of nitric-oxide synthase activity", "id": "GO:0051001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051001", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "azurophil granule lumen", "id": "GO:0035578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "P06280", "url": "https://www.uniprot.org/uniprot/P06280" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 139, "end_pos": 141, "annotation": "n_glycosylation_sequon" }, { "start_pos": 192, "end_pos": 194, "annotation": "n_glycosylation_sequon" }, { "start_pos": 215, "end_pos": 217, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "21112", "name": "", "equation": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06280-1", "P51569-1" ], "evidence": [ { "id": "21112", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/21112" } ] }, { "id": "48020", "name": "", "equation": "a globoside Gb3Cer + H2O = a beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide + D-galactose", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06280-1", "P51569-1" ], "evidence": [ { "id": "48020", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/48020" } ] }, { "id": "R-HSA-1605736", "name": "GLA hydrolyzes PSAP(195-273):Gb3Cer:PE", "equation": "", "summary": "Alpha-galactosidase A (GLA) (Bishop et al. 1986) removes the terminal galactose residue from glycolipids or glycoproteins, mobilized by PSAP(195-273) (Saposin B), resulting in galactose and an alcohol. An example is the Fabry disease substrate globotriaosylceramide (Gb3Cer) which is hydrolysed to form galactose and lactosylceramide. GLA functions as a homodimer (Garman & Garboczi 2004) and defects in this enzyme lead to Fabry disease (FD) (MIM:301500), a rare X-linked sphingolipidosis disease where glycolipids such as Gb3Cer accumulate in many tissues (Garman & Garboczi 2004, Eng et al. 1993, Shabeer et al. 2006).; Researchers also observed elevated Gb3Cer in prosaposin deficiency (PSAPD, MIM: 611721) cases, a rare disease with low levels of all saposins. Saposin B (PSAP(195-273)) is an essential cofactor to the reaction (Bradova et al., 1993).", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06280-1" ], "evidence": [ { "id": "R-HSA-1605736", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1605736" } ] }, { "id": "R-HSA-6798751", "name": "Exocytosis of azurophil granule lumen proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).; ; MPO reacts with H2O2 formed by NADPH oxidase, increasing its toxicity by formation of hypochlorous acid and other chlorination products, tyrosine radicals and reactive nitrogen intermediates which attack the surface of microbes (Klebanoff et al. 2013).;", "cellular_location": "extracellular region, azurophil granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q05655-1", "P07686-1", "P12724-1", "P04066-1", "Q92820-1", "Q6XQN6-1", "Q99536-1", "Q9BRF8-1", "Q9UHL4-1", "P08246-1", "P34059-1", "P15586-1", "P24158-1", "Q9Y2J8-1", "P10619-1", "O00584-1", "P53396-1", "P55072-1", "P06280-1", "P28482-1", "Q9NZK5-1", "P20933-1", "P05089-1", "P15289-1", "P15848-1", "P16278-1", "Q9H7Z7-1", "P53634-1", "P08311-1", "Q9BTY2-1", "P00387-1", "P30041-1", "P05164-1", "Q8NBS9-1", "P11216-1", "P10153-1", "P61626-1", "P08236-1", "P42685-1", "P07478-1", "O00754-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6798751", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798751" } ] }, { "id": "R-HSA-9841189", "name": "GLA hydrolyzes PSAP(195-273):Gal2Cer:PE", "equation": "", "summary": "Alpha-galactosidase A (GLA) (Bishop et al. 1986) removes the terminal galactose residue from glycolipids or glycoproteins, mobilized by PSAP(195-273) (Saposin B), resulting in galactose and an alcohol. An example is the Fabry disease substrate digalactosylceramide (Gal2Cer) which is hydrolysed to form galactose and galactosylceramide (GalCer) (Dean & Sweeley, 1979). GLA functions as a homodimer (Garman & Garboczi 2004) and defects in this enzyme lead to Fabry disease (FD) (MIM:301500), a rare X-linked sphingolipidosis disease where glycolipids such as Gal2Cer accumulate in many tissues (Garman & Garboczi 2004, Eng et al. 1993, Shabeer et al. 2006).; Researchers also observed elevated Gal2Cer in prosaposin deficiency (PSAPD, MIM: 611721) cases, a rare disease with low levels of all saposins. Saposin B (PSAP(195-273)) is an essential cofactor to the reaction (Bradova et al., 1993; Kase et al., 1996)", "cellular_location": "lysosomal lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06280-1" ], "evidence": [ { "id": "R-HSA-9841189", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9841189" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00584", "gene_name": "RNASET2", "activity": [ { "ec_number": "4.6.1.19", "activity": "a ribonucleotidyl-ribonucleotide-RNA + H2O = a 3'-end 3'-phospho-ribonucleotide-RNA + a 5'-end dephospho-ribonucleoside-RNA + H(+).", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] }, { "ec_number": "4.6.1.19", "activity": "", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] } ] }, { "uniprot_ac": "O00754", "gene_name": "MAN2B1", "activity": [ { "ec_number": "3.2.1.24", "activity": "Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] }, { "ec_number": "3.2.1.24", "activity": "", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] } ] }, { "uniprot_ac": "P00387", "gene_name": "CYB5R3", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] } ] }, { "uniprot_ac": "P04066", "gene_name": "FUCA1", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] } ] }, { "uniprot_ac": "P05089", "gene_name": "ARG1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] } ] }, { "uniprot_ac": "P05164", "gene_name": "MPO", "activity": [ { "ec_number": "1.11.2.2", "activity": "chloride + H(+) + H2O2 = H2O + hypochlorous acid.", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] }, { "ec_number": "1.11.2.2", "activity": "", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] } ] }, { "uniprot_ac": "P06280", "gene_name": "GLA", "activity": [ { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose.", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] } ] }, { "uniprot_ac": "P07478", "gene_name": "PRSS2", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] } ] }, { "uniprot_ac": "P07686", "gene_name": "HEXB", "activity": [ { "ec_number": "3.2.1.52", "activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] }, { "ec_number": "3.2.1.52", "activity": "", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P08246", "gene_name": "ELANE", "activity": [ { "ec_number": "3.4.21.37", "activity": "Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] }, { "ec_number": "3.4.21.37", "activity": "", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] } ] }, { "uniprot_ac": "P08311", "gene_name": "CTSG", "activity": [ { "ec_number": "3.4.21.20", "activity": "Specificity similar to chymotrypsin C.", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] }, { "ec_number": "3.4.21.20", "activity": "", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] } ] }, { "uniprot_ac": "P10153", "gene_name": "RNASE2", "activity": [ { "ec_number": "4.6.1.18", "activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] }, { "ec_number": "4.6.1.18", "activity": "", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] } ] }, { "uniprot_ac": "P10619", "gene_name": "CTSA", "activity": [ { "ec_number": "3.4.16.-", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "Release of a C-terminal amino acid with broad specificity.", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] } ] }, { "uniprot_ac": "P11216", "gene_name": "PYGB", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] } ] }, { "uniprot_ac": "P12724", "gene_name": "RNASE3", "activity": [ { "ec_number": "3.1.27.-", "activity": "", "evidence": [ { "id": "P12724", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12724" } ] } ] }, { "uniprot_ac": "P15289", "gene_name": "ARSA", "activity": [ { "ec_number": "3.1.6.8", "activity": "H2O + N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H(+) + sulfate.", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] }, { "ec_number": "3.1.6.8", "activity": "", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P20933", "gene_name": "AGA", "activity": [ { "ec_number": "3.5.1.26", "activity": "H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine.", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] }, { "ec_number": "3.5.1.26", "activity": "", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] } ] }, { "uniprot_ac": "P24158", "gene_name": "PRTN3", "activity": [ { "ec_number": "3.4.21.76", "activity": "Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-.", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] }, { "ec_number": "3.4.21.76", "activity": "", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P30041", "gene_name": "PRDX6", "activity": [ { "ec_number": "1.11.1.27", "activity": "a hydroperoxide + 2 glutathione = an alcohol + glutathione disulfide + H2O.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "1.11.1.27", "activity": "", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] } ] }, { "uniprot_ac": "P34059", "gene_name": "GALNS", "activity": [ { "ec_number": "3.1.6.4", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] }, { "ec_number": "3.1.6.4", "activity": "", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] } ] }, { "uniprot_ac": "P42685", "gene_name": "FRK", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] } ] }, { "uniprot_ac": "P51569", "gene_name": "Gla", "activity": [ { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P51569", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51569" } ] }, { "ec_number": "3.2.1.22", "activity": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose.", "evidence": [ { "id": "P51569", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51569" } ] }, { "ec_number": "3.2.1.22", "activity": "", "evidence": [ { "id": "P51569", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51569" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P53634", "gene_name": "CTSC", "activity": [ { "ec_number": "3.4.14.1", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro.", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] }, { "ec_number": "3.4.14.1", "activity": "", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P61626", "gene_name": "LYZ", "activity": [ { "ec_number": "3.2.1.17", "activity": "Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] }, { "ec_number": "3.2.1.17", "activity": "", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] } ] }, { "uniprot_ac": "Q05655", "gene_name": "PRKCD", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] }, { "ec_number": "2.7.11.13", "activity": "", "evidence": [ { "id": "Q05655", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05655" } ] } ] }, { "uniprot_ac": "Q6XQN6", "gene_name": "NAPRT", "activity": [ { "ec_number": "6.3.4.21", "activity": "5-phospho-alpha-D-ribose 1-diphosphate + ATP + H2O + nicotinate = ADP + diphosphate + nicotinate beta-D-ribonucleotide + phosphate.", "evidence": [ { "id": "Q6XQN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] }, { "ec_number": "6.3.4.21", "activity": "", "evidence": [ { "id": "Q6XQN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6XQN6" } ] } ] }, { "uniprot_ac": "Q8NBS9", "gene_name": "TXNDC5", "activity": [ { "ec_number": "1.8.4.-", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] } ] }, { "uniprot_ac": "Q92820", "gene_name": "GGH", "activity": [ { "ec_number": "3.4.19.9", "activity": "(6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + (n-1) H2O = (6S)-5,6,7,8-tetrahydrofolate + (n-1) L-glutamate.", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] }, { "ec_number": "3.4.19.9", "activity": "", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] } ] }, { "uniprot_ac": "Q99536", "gene_name": "VAT1", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q99536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99536" } ] } ] }, { "uniprot_ac": "Q9BRF8", "gene_name": "CPPED1", "activity": [ { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "Q9BRF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRF8" } ] } ] }, { "uniprot_ac": "Q9BTY2", "gene_name": "FUCA2", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] } ] }, { "uniprot_ac": "Q9H7Z7", "gene_name": "PTGES2", "activity": [ { "ec_number": "5.3.99.3", "activity": "prostaglandin H2 = prostaglandin E2.", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] }, { "ec_number": "5.3.99.3", "activity": "", "evidence": [ { "id": "Q9H7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7Z7" } ] } ] }, { "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": "Q9UHL4", "gene_name": "DPP7", "activity": [ { "ec_number": "3.4.14.2", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-, preferentially when Yaa is Ala or Pro. Substrates are oligopeptides, preferentially tripeptides.", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] }, { "ec_number": "3.4.14.2", "activity": "", "evidence": [ { "id": "Q9UHL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHL4" } ] } ] }, { "uniprot_ac": "Q9Y2J8", "gene_name": "PADI2", "activity": [ { "ec_number": "3.5.3.15", "activity": "H2O + L-arginyl-[protein] = L-citrullyl-[protein] + NH4(+).", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] }, { "ec_number": "3.5.3.15", "activity": "", "evidence": [ { "id": "Q9Y2J8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2J8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 139, 192, 215 ], "o_linked_sites": [], "snv_sites": [ 139, 141, 192, 215, 216, 230, 244, 265, 298, 409, 427 ], "glycation_sites": [], "phosphorylation_sites": [ 371 ], "sequon_annotation_sites": [ { "start_pos": 139, "end_pos": 141 }, { "start_pos": 192, "end_pos": 194 }, { "start_pos": 215, "end_pos": 217 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 26 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 18 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "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", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 23 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 18 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "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", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 159 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }