{ "uniprot_canonical_ac": "Q8NBK3-1", "uniprot_ac": "Q8NBK3", "uniprot_id": "SUMF1_HUMAN", "mass": { "chemical_mass": 40556.0, "monoisotopic_mass": 40556.0 }, "refseq": { "ac": "NP_001158146", "name": "formylglycine-generating enzyme isoform 2 precursor", "summary": "This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146" }, "gene_names": [ { "name": "SUMF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8NBK3", "id": "Q8NBK3" }, { "name": "AAPA3037; FGE; UNQ3037", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146", "id": "NP_001158146" }, { "name": "PRO9852", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8NBK3", "id": "Q8NBK3" }, { "name": "PSEC0152", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8NBK3", "id": "Q8NBK3" }, { "name": "SUMF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146", "id": "NP_001158146" } ], "protein_names": [ { "name": "Formylglycine-generating enzyme", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8NBK3" }, { "name": "1.8.3.7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NBK3" }, { "name": "C-alpha-formylglycine-generating enzyme 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NBK3" }, { "name": "FGE", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NBK3" }, { "name": "FGly-generating enzyme; C-alpha-formylglycine-generating enzyme 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146", "id": "NP_001158146" }, { "name": "Sulfatase-modifying factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NBK3" }, { "name": "formylglycine-generating enzyme isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146", "id": "NP_001158146" } ], "function": [ { "annotation": "A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_001158146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146" }, { "database": "PubMed", "id": "32621519", "url": "https://glygen.org/publication/PubMed/32621519" } ] }, { "annotation": "Association between SUMF1 polymorphisms and COVID-19 severity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001158146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146" }, { "database": "PubMed", "id": "37344788", "url": "https://glygen.org/publication/PubMed/37344788" } ] }, { "annotation": "Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001158146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146" }, { "database": "PubMed", "id": "32414121", "url": "https://glygen.org/publication/PubMed/32414121" } ] }, { "annotation": "Mutational analysis of SUMF1 in 20 Multiple sulfatase deficiency patients of different ethnic origin", "evidence": [ { "database": "RefSeq", "id": "NP_001158146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146" }, { "database": "PubMed", "id": "15146462", "url": "https://glygen.org/publication/PubMed/15146462" } ] }, { "annotation": "Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001158146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146" }, { "database": "PubMed", "id": "32749716", "url": "https://glygen.org/publication/PubMed/32749716" } ] }, { "annotation": "Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756, PubMed:21224894). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15907468, PubMed:15657036).", "evidence": [ { "database": "UniProtKB", "id": "Q8NBK3", "url": "https://www.uniprot.org/uniprot/Q8NBK3#function" }, { "database": "PubMed", "id": "16368756", "url": "https://glygen.org/publication/PubMed/16368756" }, { "database": "PubMed", "id": "15907468", "url": "https://glygen.org/publication/PubMed/15907468" }, { "database": "PubMed", "id": "21224894", "url": "https://glygen.org/publication/PubMed/21224894" }, { "database": "PubMed", "id": "15657036", "url": "https://glygen.org/publication/PubMed/15657036" }, { "database": "PubMed", "id": "25931126", "url": "https://glygen.org/publication/PubMed/25931126" }, { "database": "PubMed", "id": "12757706", "url": "https://glygen.org/publication/PubMed/12757706" } ] }, { "annotation": "This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001158146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146" } ] } ], "disease": [ { "disease_id": "DOID:0050441", "recommended_name": { "id": "DOID:0050441", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050441", "name": "mucosulfatidosis", "description": "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes." }, "synonyms": [ { "id": "DOID:0050441", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050441", "name": "Sulfatidosis, Juvenile, Austin Type", "description": "" }, { "id": "DOID:0050441", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050441", "name": "multiple sulfatase deficiency disease", "description": "" }, { "id": "MONDO:0010088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088", "name": "mucosulfatidosis", "description": "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." }, { "id": "MONDO:0010088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088", "name": "MSD", "description": "" }, { "id": "MONDO:0010088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088", "name": "juvenile sulfatidosis, Austin type", "description": "" }, { "id": "MONDO:0010088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088", "name": "mucosulfatidosis", "description": "" }, { "id": "MONDO:0010088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088", "name": "multiple sulfatase deficiency disease", "description": "" }, { "id": "MONDO:0010088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088", "name": "sulfatidosis, juvenile, Austin type", "description": "" }, { "id": "MONDO:0010088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088", "name": "juvenile sulfatidosis", "description": "" }, { "id": "MONDO:0010088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088", "name": "multiple sulfatase deficiency", "description": "" }, { "id": "MONDO:0010088", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088", "name": "sulfatidosis juvenile, Austin type", "description": "" }, { "id": "MIM:272200", "resource": "MIM", "url": "https://www.omim.org/entry/272200", "name": "Multiple sulfatase deficiency", "description": "Multiple sulfatase deficiency" } ], "evidence": [ { "id": "0010088", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010088" }, { "id": "272200", "database": "MIM", "url": "https://www.omim.org/entry/272200" } ] } ], "snv": [ { "evidence": [ { "id": "rs757829905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757829905" }, { "id": "rs757829905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757829905" }, { "id": "rs757829905", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757829905#frequency_tab" }, { "id": "rs757829905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757829905" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 143, "end_pos": 143, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "3", "chr_pos": "4452893", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777356483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777356483" }, { "id": "rs777356483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777356483" }, { "id": "rs777356483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777356483" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 271, "end_pos": 271, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTG->NTS).", "chr_id": "3", "chr_pos": "4417157", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8NBK3", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NBK3" } ], "glycoeffect": [], "start_pos": 298, "end_pos": 298, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "4410927", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A298", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "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", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "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, 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", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": 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"url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs755056347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755056347" }, { "id": "rs755056347", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755056347" }, { "id": "rs755056347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755056347" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 309, "end_pos": 309, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HHS->NHS).", "chr_id": "3", "chr_pos": "4410894", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H309", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 333, "end_pos": 333, "sequence_org": "S", 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"0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144455" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144455" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144455" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.1", "present": "HIGH", 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"significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q8NBK3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NBK3" } ], "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": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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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": "Q8NBK3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NBK3" } ], "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://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NBK3" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q8NBK3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NBK3" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBK3", "url": "https://www.uniprot.org/uniprot/Q8NBK3" } ], "common_name": "Human" } ], "gene": [ { "name": "SUMF1", "url": "https://www.uniprot.org/uniprot/Q8NBK3", "locus": { "chromosome": "3", "start_pos": 3700814, "end_pos": 4467273, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000144455", "url": "https://www.ensembl.org/id/ENSG00000144455" } ] } } ], "crossref": [ { "id": "ENSG00000144455", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144455", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q8NBK3", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NBK3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "1.8.3.7", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.8.3.7&UniProtAcc=Q8NBK3", "database": "BRENDA", 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"https://www.ebi.ac.uk/interpro/entry/IPR016187", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042095", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042095", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:285362", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:285362", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "272200", "url": "http://www.omim.org/entry/272200", "database": "MIM", "categories": [ "Other" ] }, { "id": "607939", "url": "http://www.omim.org/entry/607939", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q8NBK3", "url": "https://www.nextprot.org/entry/NX_Q8NBK3", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q8NBK3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NBK3", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WTADLWD", "url": "https://omabrowser.org/oma/group/WTADLWD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5399900at2759", "url": "http://www.orthodb.org/?query=5399900at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23150", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23150", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23150:SF19", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23150:SF19", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1Y1E", "url": "https://www.rcsb.org/structure/1Y1E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Y1F", "url": "https://www.rcsb.org/structure/1Y1F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Y1G", "url": "https://www.rcsb.org/structure/1Y1G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Y1H", "url": 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"categories": [ "3D Structure" ] }, { "id": "2HI8", "url": "https://www.rcsb.org/structure/2HI8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2HIB", "url": "https://www.rcsb.org/structure/2HIB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF03781", "url": "http://pfam.xfam.org/family/PF03781", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q8NBK3", "url": "https://pharos.nih.gov/targets/Q8NBK3", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q8NBK3", "url": "http://purl.obolibrary.org/obo/PR_Q8NBK3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1663150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1663150", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001158146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "51152", "url": "https://www.rhea-db.org/rhea/51152", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "Q8NBK3", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "E9PF05", "url": "https://www.uniprot.org/uniprot/E9PF05", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PF05-1", "url": "https://www.uniprot.org/uniprot/E9PF05-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXA0", "url": "https://www.uniprot.org/uniprot/F5GXA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXA0-1", "url": "https://www.uniprot.org/uniprot/F5GXA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NBK3", "url": "https://www.uniprot.org/uniprot/Q8NBK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NBK3-1", "url": "https://www.uniprot.org/uniprot/Q8NBK3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NBK3-2", "url": "https://www.uniprot.org/uniprot/Q8NBK3-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NBK3-3", "url": "https://www.uniprot.org/uniprot/Q8NBK3-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NBK3-4", "url": "https://www.uniprot.org/uniprot/Q8NBK3-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NBK3-5", "url": "https://www.uniprot.org/uniprot/Q8NBK3-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD", "length": 374, "header": "sp|Q8NBK3-1|SUMF1_HUMAN Isoform 1 of Formylglycine-generating enzyme OS=Homo sapiens OX=9606 GN=SUMF1 PE=1 SV=3 CANONICAL=Q8NBK3-1" }, "isoforms": [ { "isoform_ac": "E9PF05-1", "url": "", "sequence": { "sequence": "MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD", "length": 242, "header": "tr|E9PF05-1|SUMF1_HUMAN Computationally mapped isoform of Formylglycine-generating enzyme OS=Homo sapiens OX=9606 GN=SUMF1 PE=1 SV=1 CANONICAL=Q8NBK3-1" }, "locus": { "chromosome": "3", "start_pos": 4467245, "end_pos": 4362147, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458465.6", "url": "https://www.ensembl.org/id/ENST00000458465.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000410060.2", "url": "https://www.ensembl.org/id/ENSP00000410060.2" } ] } }, { "isoform_ac": "F5GXA0-1", "url": "", "sequence": { "sequence": "MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSQEYYDPYFQDVASEMLRRHTASRWKAFSSLEPCCSIRRHQQYAAIERLTCGKFELRCASLRKIDCLNTNIACSYSMRQDGPRLHCVD", "length": 426, "header": "tr|F5GXA0-1|SUMF1_HUMAN Computationally mapped isoform of Formylglycine-generating enzyme OS=Homo sapiens OX=9606 GN=SUMF1 PE=1 SV=1 CANONICAL=Q8NBK3-1" }, "locus": { "chromosome": "3", "start_pos": 4467245, "end_pos": 3827423, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448413.5", "url": "https://www.ensembl.org/id/ENST00000448413.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404384.1", "url": "https://www.ensembl.org/id/ENSP00000404384.1" } ] } }, { "isoform_ac": "Q8NBK3-1", "url": "", "sequence": { "sequence": "MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD", "length": 374, "header": "sp|Q8NBK3-1|SUMF1_HUMAN Isoform 1 of Formylglycine-generating enzyme OS=Homo sapiens OX=9606 GN=SUMF1 PE=1 SV=3 CANONICAL=Q8NBK3-1" }, "locus": { "chromosome": "3", "start_pos": 4467245, "end_pos": 4362147, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000272902.10", "url": "https://www.ensembl.org/id/ENST00000272902.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000272902.5", "url": "https://www.ensembl.org/id/ENSP00000272902.5" } ] } }, { "isoform_ac": "Q8NBK3-2", "url": "", "sequence": { "sequence": "MVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD", "length": 284, "header": "sp|Q8NBK3-2|SUMF1_HUMAN Isoform 2 of Formylglycine-generating enzyme OS=Homo sapiens OX=9606 GN=SUMF1 PE=1 SV=3 CANONICAL=Q8NBK3-1" }, "locus": {} }, { "isoform_ac": "Q8NBK3-3", "url": "", "sequence": { "sequence": "MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSQEYYDPYFQDVASEMLRRHTASRWKAFSSLEPCCSIRRHQQYAAIERLTCGKFELRCASLRKIDCLNTNIACSYSMRQHGPRLHCVD", "length": 426, "header": "sp|Q8NBK3-3|SUMF1_HUMAN Isoform 3 of Formylglycine-generating enzyme OS=Homo sapiens OX=9606 GN=SUMF1 PE=1 SV=3 CANONICAL=Q8NBK3-1" }, "locus": {} }, { "isoform_ac": "Q8NBK3-4", "url": "", "sequence": { "sequence": "MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD", "length": 349, "header": "sp|Q8NBK3-4|SUMF1_HUMAN Isoform 4 of Formylglycine-generating enzyme OS=Homo sapiens OX=9606 GN=SUMF1 PE=1 SV=3 CANONICAL=Q8NBK3-1" }, "locus": { "chromosome": "3", "start_pos": 4467245, "end_pos": 4362147, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383843.9", "url": "https://www.ensembl.org/id/ENST00000383843.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000373355.5", "url": "https://www.ensembl.org/id/ENSP00000373355.5" } ] } }, { "isoform_ac": "Q8NBK3-5", "url": "", "sequence": { "sequence": "MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD", "length": 354, "header": "sp|Q8NBK3-5|SUMF1_HUMAN Isoform 5 of Formylglycine-generating enzyme OS=Homo sapiens OX=9606 GN=SUMF1 PE=1 SV=3 CANONICAL=Q8NBK3-1" }, "locus": { "chromosome": "3", "start_pos": 4467245, "end_pos": 4362147, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000405420.2", "url": "https://www.ensembl.org/id/ENST00000405420.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000384977.2", "url": "https://www.ensembl.org/id/ENSP00000384977.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "1772", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1772" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "1772", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1772" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "1772", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1772" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "1772", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1772" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "Q8NBK3", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "Q8NBK3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBK3#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "15907468", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15907468" }, { "id": "15657036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15657036" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 142, "start_aa": "Ser", "end_pos": 142, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser142", "evidence": [ { "id": "Q8NBK3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NBK3" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.", "journal": "Genomics", "date": "1999", "authors": "Monti E, Preti A, Rossi E, Ballabio A, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10191093", "url": "https://glygen.org/publication/PubMed/10191093" } ] }, { "title": "An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "Regis S, Filocamo M, Corsolini F, Caroli F, Keulemans JL, van Diggelen OP, Gatti R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10196694", "url": "https://glygen.org/publication/PubMed/10196694" } ] }, { "title": "Structural and membrane-binding properties of saposin D.", "journal": "European journal of biochemistry", "date": "1999-07", "authors": "Tatti M, Salvioli R, Ciaffoni F, Pucci P, Andolfo A, Amoresano A, Vaccaro A M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10406958", "url": "https://glygen.org/publication/PubMed/10406958" } ] }, { "title": "Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids.", "journal": "FEBS letters", "date": "2000", "authors": "Salvioli R, Tatti M, Ciaffoni F, Vaccaro AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10781797", "url": "https://glygen.org/publication/PubMed/10781797" } ] }, { "title": "Cloning and characterization of the mammalian brain-specific, Mg2+-dependent neutral sphingomyelinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Hofmann K, Tomiuk S, Wolff G, Stoffel W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10823942", "url": "https://glygen.org/publication/PubMed/10823942" } ] }, { "title": "Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane.", "journal": "The Biochemical journal", "date": "2000", "authors": "Monti E, Bassi MT, Papini N, Riboni M, Manzoni M, Venerando B, Croci G, Preti A, Ballabio A, Tettamanti G, Borsani G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10861246", "url": "https://glygen.org/publication/PubMed/10861246" } ] }, { "title": "Degradation of membrane-bound ganglioside GM1. Stimulation by bis(monoacylglycero)phosphate and the activator proteins SAP-B and GM2-AP.", "journal": "The Journal of biological chemistry", "date": "2000-11-17", "authors": "Wilkening G, Linke T, Uhlhorn-Dierks G, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10942779", "url": "https://glygen.org/publication/PubMed/10942779" } ] }, { "title": "Human acid ceramidase gene: novel mutations in Farber disease.", "journal": "Molecular genetics and metabolism", "date": "2000", "authors": "Zhang Z, Mandal AK, Mital A, Popescu N, Zimonjic D, Moser A, Moser H, Mukherjee AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "10993717", "url": "https://glygen.org/publication/PubMed/10993717" } ] }, { "title": "Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.", "journal": "Molecular genetics and metabolism", "date": "2001-05", "authors": "Whitfield P D, Sharp P C, Johnson D W, Nelson P, Meikle P J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11350180", "url": "https://glygen.org/publication/PubMed/11350180" } ] }, { "title": "Molecular cloning and expression of human bile acid beta-glucosidase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matern H, Boermans H, Lottspeich F, Matern S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11489889", "url": "https://glygen.org/publication/PubMed/11489889" } ] }, { "title": "Physiological substrates for human lysosomal beta -hexosaminidase S.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Hepbildikler ST, Sandhoff R, Kolzer M, Proia RL, Sandhoff K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11707436", "url": "https://glygen.org/publication/PubMed/11707436" } ] }, { "title": "Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides.", "journal": "European journal of biochemistry", "date": "2002", "authors": "Berrin JG, McLauchlan WR, Needs P, Williamson G, Puigserver A, Kroon PA, Juge N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "11784319", "url": "https://glygen.org/publication/PubMed/11784319" } ] }, { "title": "Study of interaction of GM2 activator protein with GM2 using circular dichroism and fluorescence spectroscopy.", "journal": "Neurochemical research", "date": "2002-08", "authors": "Ravasi Daniela, Masserini Massimo, Vecchio Giuseppe, Li Yu-Teh, Li Su-Chen", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12374214", "url": "https://glygen.org/publication/PubMed/12374214" } ] }, { "title": "Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B.", "journal": "Protein expression and purification", "date": "2003-01", "authors": "Ahn Victoria E, Faull Kym F, Whitelegge Julian P, Higginson Jason, Fluharty Arvan L, Priv\u00e9 Gilbert G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12510003", "url": "https://glygen.org/publication/PubMed/12510003" } ] }, { "title": "Crystal structure of saposin B reveals a dimeric shell for lipid binding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Ahn VE, Faull KF, Whitelegge JP, Fluharty AL, Prive GG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12518053", "url": "https://glygen.org/publication/PubMed/12518053" } ] }, { "title": "Biochemical properties of mammalian neutral sphingomyelinase 2 and its role in sphingolipid metabolism.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Marchesini N, Luberto C, Hannun YA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12566438", "url": "https://glygen.org/publication/PubMed/12566438" } ] }, { "title": "Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans.", "journal": "European journal of nutrition", "date": "2003", "authors": "Nemeth K, Plumb GW, Berrin JG, Juge N, Jacob R, Naim HY, Williamson G, Swallow DM, Kroon PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": 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"UniProtKB", "id": "Q8NBK3", "url": "https://www.uniprot.org/uniprot/Q8NBK3" }, { "database": "Reactome", "id": "R-HSA-1663150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1663150" } ], "reference": [ { "type": "PubMed", "id": "12757705", "url": "https://glygen.org/publication/PubMed/12757705" } ] }, { "title": "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.", "journal": "Cell", "date": "2003", "authors": "Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A", "evidence": [ { "database": "UniProtKB", "id": "Q8NBK3", "url": "https://www.uniprot.org/uniprot/Q8NBK3" }, { "database": "Reactome", "id": "R-HSA-1663150", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1663150" } ], "reference": [ { "type": "PubMed", "id": "12757706", "url": "https://glygen.org/publication/PubMed/12757706" } ] }, { "title": "Identification of human intestinal alkaline sphingomyelinase as a novel ecto-enzyme related to the nucleotide phosphodiesterase family.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Duan RD, Bergman T, Xu N, Wu J, Cheng Y, Duan J, Nelander S, Palmberg C, Nilsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12885774", "url": "https://glygen.org/publication/PubMed/12885774" } ] }, { "title": "Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.", "journal": "Journal of inorganic biochemistry", "date": "2003", "authors": "Chruszcz M, Laidler P, Monkiewicz M, Ortlund E, Lebioda L, Lewinski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12888274", "url": "https://glygen.org/publication/PubMed/12888274" } ] }, { "title": "Structural analysis of lipid complexes of GM2-activator protein.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Wright CS, Zhao Q, Rastinejad F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9840310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840310" } ], "reference": [ { "type": "PubMed", "id": "12909021", "url": "https://glygen.org/publication/PubMed/12909021" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, 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Contains high-mannose-type oligosaccharides.", "evidence": [ { "database": "UniProtKB", "id": "Q8NBK3", "url": "https://www.uniprot.org/uniprot/Q8NBK3" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "15907468", "url": "https://glygen.org/publication/PubMed/15907468" }, { "database": "PubMed", "id": "15657036", "url": "https://glygen.org/publication/PubMed/15657036" } ] } ], "interactions": [], "reactions": [ { "id": "51152", "name": "", "equation": "2 a thiol + L-cysteinyl-[sulfatase] + O2 = 3-oxo-L-alanyl-[sulfatase] + an organic disulfide + H(+) + H2O + hydrogen sulfide", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8NBK3-1", "Q8R0F3-1" ], "evidence": [ { "id": "51152", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/51152" } ] }, { "id": "R-HSA-1614336", "name": "SUMF2 binds SUMF1, inhibiting SUMF1-mediated activation of arylsulfatases", "equation": "", "summary": "Sulfatase-modifying factor 2 (SUMF2, also called C-alpha-formylglycine-generating enzyme 2, pFGE) is the paralogue of SUMF1. While SUMF1 can modify a critical residue on arylsulfatases to confer activity to them, SUMF2 lacks this ability (Mariappan et al. 2005) and instead, SUMF2 can inhibit the action of SUMF1 by dimerising with it (Zito et al. 2005). SUMF2 can interact with sulfatases with and without SUMF1 (Zito et al. 2005).", "cellular_location": "endoplasmic reticulum lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8NBK3-1" ], "evidence": [ { "id": "R-HSA-1614336", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614336" } ] }, { "id": "R-HSA-1614362", "name": "SUMF1 mediates the oxidation of cysteine to formylglycine, producing active arylsulfatases", "equation": "", "summary": "The sulfatase-modifying factor 1 (SUMF1, also called C-alpha-formylglycine-generating enzyme, FGE) (Preusser-Kunze et al. 2005, Cosma et al. 2003, Landgrebe et al. 2003) oxidises the critical cysteine residue in arylsulfatases to an active site formylglycine (3-oxoalanine) residue thus conferring sulfatase activity (Roeser et al. 2006). Defects in SUMF1 cause multiple sulfatase deficiency (MSD) (MIM:272200), an impairment of arylsulfatase activity due to defective post-translational modification of the cysteine residue (Cosma et al. 2003, Dierks et al, 2003). This post-translational modification is thought to be highly conserved in eukaryotes (Selmer et al. 1996, von Figura et al. 1998). SUMF1 is active as either a monomer or a homodimer. A monomer is described in this reaction.", "cellular_location": "endoplasmic reticulum lumen", "input_participant_list": [], "output_participant_list": [ "R-ALL-1663154", "R-ALL-194697" ], "enzyme_list": [ "P51689-1", "Q5FYA8-1", "Q5FYB1-1", "Q6UWY0-1", "P54793-1", "Q5FYB0-1", "Q96EG1-1", "P15289-1", "P15848-1", "P51690-1", "P08842-1", "Q8NBK3-1" ], "evidence": [ { "id": "R-HSA-1614362", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614362" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1663154", "participant_name": "H2S [endoplasmic reticulum lumen]", "crossref": [ { "id": "29919", "database": "ChEBI", "url": "" }, { "id": "29919", "database": "ChEBI", "url": "" }, { "id": "29919", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-194697", "participant_name": "NADH [endoplasmic reticulum lumen]", "crossref": [ { "id": "C00004", "database": "COMPOUND", "url": "" }, { "id": "57945", "database": "ChEBI", "url": "" }, { "id": "000008215403", "database": "ZINC", "url": "" }, { "id": "C00004", "database": "COMPOUND", "url": "" }, { "id": "000008215403", "database": "ZINC", "url": "" }, { "id": "57945", "database": "ChEBI", "url": "" }, { "id": "000008215403", "database": "ZINC", "url": "" }, { "id": "C00004", "database": "COMPOUND", "url": "" }, { "id": "57945", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P08842", "gene_name": "STS", "activity": [ { "ec_number": "3.1.6.2", "activity": "dehydroepiandrosterone 3-sulfate + H2O = 3beta-hydroxyandrost-5-en-17-one + H(+) + sulfate.", "evidence": [ { "id": "P08842", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08842" } ] }, { "ec_number": "3.1.6.2", "activity": "", "evidence": [ { "id": "P08842", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08842" } ] } ] }, { "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": "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": "P51689", "gene_name": "ARSD", "activity": [ { "ec_number": "3.1.6.-", "activity": "", "evidence": [ { "id": "P51689", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51689" } ] } ] }, { "uniprot_ac": "P51690", "gene_name": "ARSL", "activity": [ { "ec_number": "3.1.6.1", "activity": "an aryl sulfate + H2O = a phenol + H(+) + sulfate.", "evidence": [ { "id": "P51690", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51690" } ] }, { "ec_number": "3.1.6.1", "activity": "", "evidence": [ { "id": "P51690", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51690" } ] } ] }, { "uniprot_ac": "P54793", "gene_name": "ARSF", "activity": [ { "ec_number": "3.1.6.1", "activity": "an aryl sulfate + H2O = a phenol + H(+) + sulfate.", "evidence": [ { "id": "P54793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54793" } ] }, { "ec_number": "3.1.6.1", "activity": "", "evidence": [ { "id": "P54793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54793" } ] } ] }, { "uniprot_ac": "Q5FYA8", "gene_name": "ARSH", "activity": [ { "ec_number": "3.1.6.-", "activity": "", "evidence": [ { "id": "Q5FYA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5FYA8" } ] } ] }, { "uniprot_ac": "Q5FYB0", "gene_name": "ARSJ", "activity": [ { "ec_number": "3.1.6.-", "activity": "", "evidence": [ { "id": "Q5FYB0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5FYB0" } ] } ] }, { "uniprot_ac": "Q5FYB1", "gene_name": "ARSI", "activity": [ { "ec_number": "3.1.6.-", "activity": "", "evidence": [ { "id": "Q5FYB1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5FYB1" } ] } ] }, { "uniprot_ac": "Q6UWY0", "gene_name": "ARSK", "activity": [ { "ec_number": "3.1.6.1", "activity": "an aryl sulfate + H2O = a phenol + H(+) + sulfate.", "evidence": [ { "id": "Q6UWY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UWY0" } ] }, { "ec_number": "3.1.6.18", "activity": "Hydrolysis of the 2-sulfate groups of the 2-O-sulfo-D-glucuronate residues of chondroitin sulfate, heparin and heparitin sulfate.", "evidence": [ { "id": "Q6UWY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UWY0" } ] }, { "ec_number": "3.1.6.1", "activity": "", "evidence": [ { "id": "Q6UWY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UWY0" } ] } ] }, { "uniprot_ac": "Q8NBK3", "gene_name": "SUMF1", "activity": [ { "ec_number": "1.8.3.7", "activity": "2 a thiol + L-cysteinyl-[sulfatase] + O2 = 3-oxo-L-alanyl-[sulfatase] + an organic disulfide + H(+) + H2O + hydrogen sulfide.", "evidence": [ { "id": "Q8NBK3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBK3" } ] }, { "ec_number": "1.8.3.7", "activity": "", "evidence": [ { "id": "Q8NBK3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBK3" } ] } ] }, { "uniprot_ac": "Q8R0F3", "gene_name": "Sumf1", "activity": [ { "ec_number": "1.8.3.7", "activity": "2 a thiol + L-cysteinyl-[sulfatase] + O2 = 3-oxo-L-alanyl-[sulfatase] + an organic disulfide + H(+) + H2O + hydrogen sulfide.", "evidence": [ { "id": "Q8R0F3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R0F3" } ] }, { "ec_number": "1.8.3.7", "activity": "", "evidence": [ { "id": "Q8R0F3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R0F3" } ] } ] }, { "uniprot_ac": "Q96EG1", "gene_name": "ARSG", "activity": [ { "ec_number": "3.1.6.1", "activity": "an aryl sulfate + H2O = a phenol + H(+) + sulfate.", "evidence": [ { "id": "Q96EG1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EG1" } ] }, { "ec_number": "3.1.6.15", "activity": "Hydrolysis of the 3-sulfate groups of the N-sulfo-D-glucosamine 3-O-sulfate units of heparin.", "evidence": [ { "id": "Q96EG1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EG1" } ] }, { "ec_number": "3.1.6.1", "activity": "", "evidence": [ { "id": "Q96EG1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EG1" } ] } ] } ], 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