{ "uniprot_canonical_ac": "P08842-1", "uniprot_ac": "P08842", "uniprot_id": "STS_HUMAN", "mass": { "chemical_mass": 65492.0, "monoisotopic_mass": 65492.0 }, "refseq": { "ac": "NP_000342", "name": "steryl-sulfatase isoform 1 precursor", "summary": "This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342" }, "gene_names": [ { "name": "STS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08842", "id": "P08842" }, { "name": "ARSC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08842", "id": "P08842" }, { "name": "ARSC; ARSC1; ASC; ES; SSDD; XLI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342", "id": "NP_000342" }, { "name": "STS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342", "id": "NP_000342" } ], "protein_names": [ { "name": "Steryl-sulfatase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08842" }, { "name": "3.1.6.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08842" }, { "name": "ASC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08842" }, { "name": "Arylsulfatase C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08842" }, { "name": "Estrone sulfatase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08842" }, { "name": "Steroid sulfatase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08842" }, { "name": "Steryl-sulfate sulfohydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08842" }, { "name": "steryl-sulfatase isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342", "id": "NP_000342" }, { "name": "steryl-sulfatase; estrone sulfatase; arylsulfatase C; steryl-sulfate sulfohydrolase; steroid sulfatase (microsomal), isozyme S", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342", "id": "NP_000342" } ], "function": [ { "annotation": "Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.", "evidence": [ { "database": "RefSeq", "id": "NP_000342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342" }, { "database": "PubMed", "id": "36789964", "url": "https://glygen.org/publication/PubMed/36789964" } ] }, { "annotation": "Catalyzes the conversion of sulfated steroid precursors, such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate to the free steroid.", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842#function" }, { "database": "PubMed", "id": "10844566", "url": "https://glygen.org/publication/PubMed/10844566" }, { "database": "PubMed", "id": "9252398", "url": "https://glygen.org/publication/PubMed/9252398" }, { "database": "PubMed", "id": "23466819", "url": "https://glygen.org/publication/PubMed/23466819" } ] }, { "annotation": "STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342" }, { "database": "PubMed", "id": "37895274", "url": "https://glygen.org/publication/PubMed/37895274" } ] }, { "annotation": "Steroid sulfatase deficiency causes cellular senescence and abnormal differentiation by inducing Yippee-like 3 expression in human keratinocytes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342" }, { "database": "PubMed", "id": "34675221", "url": "https://glygen.org/publication/PubMed/34675221" } ] }, { "annotation": "Structure of human placental steroid sulfatase at 2.0 angstrom resolution: Catalysis, quaternary association, and a secondary ligand site.", "evidence": [ { "database": "RefSeq", "id": "NP_000342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342" }, { "database": "PubMed", "id": "36427797", "url": "https://glygen.org/publication/PubMed/36427797" } ] }, { "annotation": "The regulation of STS transcription appears to be more complex than previously thought, suggesting that this enzyme plays a substantial role in intercellular integration.", "evidence": [ { "database": "RefSeq", "id": "NP_000342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342" }, { "database": "PubMed", "id": "17601726", "url": "https://glygen.org/publication/PubMed/17601726" } ] }, { "annotation": "This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342" } ] }, { "annotation": "Two new splicing patterns found in prostate and ovary cells; report gene expression analysis for the simultaneous detection, in qualitative and/or semi-quantitative terms, of the transcription patterns of STS in different tissues", "evidence": [ { "database": "RefSeq", "id": "NP_000342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342" }, { "database": "PubMed", "id": "19429462", "url": "https://glygen.org/publication/PubMed/19429462" } ] } ], "disease": [ { "disease_id": "DOID:1700", "recommended_name": { "id": "DOID:1700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1700", "name": "X-linked ichthyosis", "description": "An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22." }, "synonyms": [ { "id": "DOID:1700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1700", "name": "X-linked placental steryl-sulphatase deficiency", "description": "" }, { "id": "DOID:1700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1700", "name": "X-linked recessive ichthyosis", "description": "" }, { "id": "DOID:1700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1700", "name": "X-linked ichthyosis with steryl-sulphatase deficiency", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "recessive X-linked ichthyosis", "description": "A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "RXLI", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "X-linked ichthyosis", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "X-linked ichthyosis with steryl-sulphatase deficiency", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "X-linked placental steryl-sulphatase deficiency", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "X-linked recessive ichthyosis", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "XLI", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "ichthyosis (disease), X-linked", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "ichthyosis , X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "recessive X-linked ichthyosis", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "steroid sulfatase deficiency", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "SSDD", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "STS deficiency", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "X linked ichthyosis", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "ichthyosis, X-linked", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "ichthyosis, X-linked, complicated", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "placental steroid sulfatase deficiency", "description": "" }, { "id": "MONDO:0010622", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010622", "name": "steroid sulfatase deficiency disease", "description": "" }, { "id": "MIM:308100", "resource": "MIM", "url": "https://www.omim.org/entry/308100", "name": "Ichthyosis, X-linked", "description": "Ichthyosis, X-linked" } ], "evidence": [ { "id": "308100", "database": "MIM", "url": "https://www.omim.org/entry/308100" } ] } ], "snv": [ { "evidence": [ { "id": "rs1470456033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470456033" }, { "id": "rs1470456033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470456033" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 474, "end_pos": 474, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "X", "chr_pos": "7349945", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N474", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "69.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "60.54", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "56.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "54.87", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "72.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.86", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "76.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "75.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000101846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101846" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08842", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08842" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": 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"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": 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"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, 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"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", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "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" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08842", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08842" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": 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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 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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": "P08842", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08842" } ], "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/P08842" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017850", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017850", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024607", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024607", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032506", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032506", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "300747", "url": "http://www.omim.org/entry/300747", "database": "MIM", "categories": [ "Other" ] }, { "id": "308100", "url": "http://www.omim.org/entry/308100", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P08842", "url": "https://www.nextprot.org/entry/NX_P08842", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "YSADMIH", "url": "https://omabrowser.org/oma/group/YSADMIH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2913702at2759", "url": "http://www.orthodb.org/?query=2913702at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR42693", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR42693", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR42693:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR42693:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1P49", "url": "https://www.rcsb.org/structure/1P49", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8EG3", "url": "https://www.rcsb.org/structure/8EG3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00884", "url": "http://pfam.xfam.org/family/PF00884", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14707", "url": "http://pfam.xfam.org/family/PF14707", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16347", "url": "http://pfam.xfam.org/family/PF16347", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08842", "url": "https://pharos.nih.gov/targets/P08842", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P08842", "url": "http://purl.obolibrary.org/obo/PR_P08842", "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-196071", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196071", "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_000342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000342", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "19873", "url": "https://www.rhea-db.org/rhea/19873", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "31055", "url": "https://www.rhea-db.org/rhea/31055", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P08842", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A590UJL0", "url": "https://www.uniprot.org/uniprot/A0A590UJL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A590UJL0-1", "url": "https://www.uniprot.org/uniprot/A0A590UJL0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A590UJT4", "url": "https://www.uniprot.org/uniprot/A0A590UJT4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A590UJT4-1", "url": "https://www.uniprot.org/uniprot/A0A590UJT4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A590UJY9", "url": "https://www.uniprot.org/uniprot/A0A590UJY9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A590UJY9-1", "url": "https://www.uniprot.org/uniprot/A0A590UJY9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08842-1", "url": "https://www.uniprot.org/uniprot/P08842-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPLRKMKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTGRYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLTNLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMMRNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGQILNLLDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNWEGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFPTVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNFNPVGSNGCFATHVCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNFLWKPWLQLCCPSTGLSCQCDREKQDKRLSR", "length": 583, "header": "sp|P08842-1|STS_HUMAN Isoform 1 of Steryl-sulfatase OS=Homo sapiens OX=9606 GN=STS PE=1 SV=2 CANONICAL=P08842-1" }, "isoforms": [ { "isoform_ac": "A0A590UJL0-1", "url": "", "sequence": { "sequence": "MKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTGRYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLTNLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMMRNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGQILNLLDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNWEGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFPTVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNFNPVGSNGCFATHVCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNFLWKPWLQLCCPSTGLSCQCDREKQDKRLSR", "length": 578, "header": "tr|A0A590UJL0-1|A0A590UJL0_HUMAN Computationally mapped isoform of Steroid sulfatase OS=Homo sapiens OX=9606 GN=STS PE=1 SV=2 CANONICAL=P08842-1" }, "locus": { "chromosome": "X", "start_pos": 7350258, "end_pos": 7253200, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674429.1", "url": "https://www.ensembl.org/id/ENST00000674429.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501534.1", "url": "https://www.ensembl.org/id/ENSP00000501534.1" } ] } }, { "isoform_ac": "A0A590UJT4-1", "url": "", "sequence": { "sequence": "MKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTGRYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLTNLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMMRNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGQILNLLDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNWEGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFPTVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNKTIFKKLGNISR", "length": 466, "header": "tr|A0A590UJT4-1|A0A590UJT4_HUMAN Computationally mapped isoform of Steroid sulfatase OS=Homo sapiens OX=9606 GN=STS PE=1 SV=2 CANONICAL=P08842-1" }, "locus": { "chromosome": "X", "start_pos": 7586241, "end_pos": 7253200, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000664306.2", "url": "https://www.ensembl.org/id/ENST00000664306.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000499549.2", "url": "https://www.ensembl.org/id/ENSP00000499549.2" } ] } }, { "isoform_ac": "A0A590UJY9-1", "url": "", "sequence": { "sequence": "MKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTGRYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLTNLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMMRNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGGKANNWEGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFPTVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNNSGSSRRTTNHCSMK", "length": 423, "header": "tr|A0A590UJY9-1|A0A590UJY9_HUMAN Computationally mapped isoform of Steroid sulfatase OS=Homo sapiens OX=9606 GN=STS PE=1 SV=2 CANONICAL=P08842-1" }, "locus": { "chromosome": "X", "start_pos": 7452429, "end_pos": 7253200, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000660000.2", "url": "https://www.ensembl.org/id/ENST00000660000.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000499642.2", "url": "https://www.ensembl.org/id/ENSP00000499642.2" } ] } }, { "isoform_ac": "P08842-1", "url": "", "sequence": { "sequence": "MPLRKMKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLCTPSRAAFMTGRYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLTNLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPLNCFMMRNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFAGKSQHGVYGDAVEEMDWSVGQILNLLDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNWEGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFPTVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNFNPVGSNGCFATHVCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQTLPEVPDQFSWNNFLWKPWLQLCCPSTGLSCQCDREKQDKRLSR", "length": 583, "header": "sp|P08842-1|STS_HUMAN Isoform 1 of Steryl-sulfatase OS=Homo sapiens OX=9606 GN=STS PE=1 SV=2 CANONICAL=P08842-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 259, "start_aa": "Asn", "end_pos": 259, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn259", "evidence": [ { "id": "1770", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1770" }, { "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": 259, "start_aa": "Asn", "end_pos": 259, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn259", "evidence": [ { "id": "1770", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1770" }, { "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": 259, "start_aa": "Asn", "end_pos": 259, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn259", "evidence": [ { "id": "P08842", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "P08842", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08842#ptm_processing" }, { "id": "2668275", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2668275" }, { "id": "12657638", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12657638" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "18180093", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/18180093" }, { "id": "18180093", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18180093" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 459, "start_aa": "Asn", "end_pos": 459, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn459", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "P08842", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08842#ptm_processing" }, { "id": "2668275", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2668275" }, { "id": "12657638", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12657638" }, { "id": "18180093", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/18180093" }, { "id": "18180093", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18180093" } ] } ], "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": "PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.", "journal": "Human mutation", "date": "2000", "authors": "Sugawara T, Shimizu H, Hoshi N, Fujimoto Y, Nakajima A, Fujimoto S", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "reference": [ { "type": "PubMed", "id": "10679952", "url": "https://glygen.org/publication/PubMed/10679952" } ] }, { "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": [ { 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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. 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"url": "http://www.informatics.jax.org/homology/45924482", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "sulfuric ester hydrolase activity", "id": "GO:0008484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008484", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "arylsulfatase activity", "id": "GO:0004065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004065", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "steryl-sulfatase activity", "id": "GO:0004773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004773", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" }, { "name": "steroid catabolic process", "id": "GO:0006706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006706", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 259, "end_pos": 261, "annotation": "n_glycosylation_sequon" }, { "start_pos": 333, "end_pos": 335, "annotation": "n_glycosylation_sequon" }, { "start_pos": 459, "end_pos": 461, "annotation": "n_glycosylation_sequon" }, { "start_pos": 47, "end_pos": 49, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P08842", "url": "https://www.uniprot.org/uniprot/P08842" }, { "database": "PubMed", "id": "12657638", "url": "https://glygen.org/publication/PubMed/12657638" } ] } ], "interactions": [], "reactions": [ { "id": "19873", "name": "", "equation": "dehydroepiandrosterone 3-sulfate + H2O = 3beta-hydroxyandrost-5-en-17-one + H(+) + sulfate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P15589-1", "P08842-1", "P50427-1" ], "evidence": [ { "id": "19873", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19873" } ] }, { "id": "31055", "name": "", "equation": "estrone 3-sulfate + H2O = estrone + H(+) + sulfate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P15589-1", "P08842-1", "P50427-1" ], "evidence": [ { "id": "31055", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/31055" } ] }, { "id": "R-HSA-1606839", "name": "ARSC hydrolyzes steroid sulfates", "equation": "", "summary": "Steryl sulfatase (formerly arylsulfatase C, ARSC) hydrolyses sulfate from steroid sulfates (Noel et al. 1983, Vaccaro et al. 1987, Suzuki et al. 1992). It is located on the ER membrane (Stein et al. 1989) and functions as a homodimer, using calcium as a cofactor. Defects in STS are the cause of ichthyosis X-linked (IXL) (MIM:308100), a keratinisation disorder (Basler et al. 1992, Alperin & Shapiro 1997).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-9841212" ], "output_participant_list": [ "R-ALL-1609649", "R-ALL-9841230" ], "enzyme_list": [ "P08842-1" ], "evidence": [ { "id": "R-HSA-1606839", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1606839" } ] }, { "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": [ "R-ALL-194653" ], "output_participant_list": [ "R-ALL-1663154" ], "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-1609649", "participant_name": "SO4(2-) [endoplasmic reticulum lumen]", "crossref": [ { "id": "16189", "database": "ChEBI", "url": "" }, { "id": "C00059", "database": "COMPOUND", "url": "" }, { "id": "8144977", "database": "PubChem Substance", "url": "" }, { "id": "C00059", "database": "COMPOUND", "url": "" }, { "id": "16189", "database": "ChEBI", "url": "" }, { "id": "8144977", "database": "PubChem Substance", "url": "" }, { "id": "16189", "database": "ChEBI", "url": "" }, { "id": "C00059", "database": "COMPOUND", "url": "" }, { "id": "8144977", "database": "PubChem Substance", "url": "" } ] }, { "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": "" }, { "id": "29919", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-194653", "participant_name": "NAD+ [endoplasmic reticulum lumen]", "crossref": [ { "id": "C00003", "database": "COMPOUND", "url": "" }, { "id": "57540", "database": "ChEBI", "url": "" }, { "id": "000008214766", "database": "ZINC", "url": "" }, { "id": "C00003", "database": "COMPOUND", "url": "" }, { "id": "57540", "database": "ChEBI", "url": "" }, { "id": "000008214766", "database": "ZINC", "url": "" }, { "id": "C00003", "database": "COMPOUND", "url": "" }, { "id": "57540", "database": "ChEBI", "url": "" }, { "id": "000008214766", "database": "ZINC", "url": "" }, { "id": "C00003", "database": "COMPOUND", "url": "" }, { "id": "57540", "database": "ChEBI", "url": "" }, { "id": "000008214766", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-9841212", "participant_name": "steroid sulfate [endoplasmic reticulum lumen]", "crossref": [ { "id": "59696", "database": "ChEBI", "url": "" }, { "id": "59696", "database": "ChEBI", "url": "" }, { "id": "59696", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-9841230", "participant_name": "steroid [endoplasmic reticulum lumen]", "crossref": [ { "id": "35341", "database": "ChEBI", "url": "" }, { "id": "C00377", "database": "COMPOUND", "url": "" }, { "id": "C00377", "database": "COMPOUND", "url": "" }, { "id": "35341", "database": "ChEBI", "url": "" }, { "id": "35341", "database": "ChEBI", "url": "" }, { "id": "C00377", "database": "COMPOUND", "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": "P15589", "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": "P15589", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15589" } ] }, { "ec_number": "3.1.6.2", "activity": "", "evidence": [ { "id": "P15589", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15589" } ] } ] }, { "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": "P50427", "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": "P50427", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50427" } ] }, { "ec_number": "3.1.6.2", "activity": "", "evidence": [ { "id": "P50427", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50427" } ] } ] }, { "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": "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" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 47, 259, 333, 459 ], "o_linked_sites": [], "snv_sites": [ 474 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 259, "end_pos": 261 }, { "start_pos": 333, "end_pos": 335 }, { "start_pos": 459, "end_pos": 461 }, { "start_pos": 47, "end_pos": 49 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "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", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "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": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 127 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }