{ "uniprot_canonical_ac": "Q9H1B5-1", "uniprot_ac": "Q9H1B5", "uniprot_id": "XYLT2_HUMAN", "mass": { "chemical_mass": 96767.0, "monoisotopic_mass": 96767.0 }, "refseq": { "ac": "NP_071450", "name": "xylosyltransferase 2", "summary": "The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" }, "gene_names": [ { "name": "XYLT2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H1B5", "id": "Q9H1B5" }, { "name": "PRO9878", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H1B5", "id": "Q9H1B5" }, { "name": "PXYLT2; SOS; XT-II; XT2; xylT-II", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450", "id": "NP_071450" }, { "name": "XT2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H1B5", "id": "Q9H1B5" }, { "name": "XYLT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450", "id": "NP_071450" }, { "name": "hCG_29612", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H1B5", "id": "Q9H1B5" } ], "protein_names": [ { "name": "Xylosyltransferase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H1B5" }, { "name": "2.4.2.26", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H1B5" }, { "name": "Peptide O-xylosyltransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H1B5" }, { "name": "UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase; protein xylosyltransferase 2; peptide O-xylosyltransferase 1; xylosyltransferase II", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450", "id": "NP_071450" }, { "name": "XT-II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H1B5" }, { "name": "XylT-II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H1B5" }, { "name": "Xylosyltransferase II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H1B5" }, { "name": "xylosyltransferase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450", "id": "NP_071450" } ], "function": [ { "annotation": "Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein.", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5#function" }, { "database": "PubMed", "id": "26027496", "url": "https://glygen.org/publication/PubMed/26027496" }, { "database": "PubMed", "id": "17189265", "url": "https://glygen.org/publication/PubMed/17189265" } ] }, { "annotation": "Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide.", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" }, { "database": "PubMed", "id": "33609631", "url": "https://glygen.org/publication/PubMed/33609631" } ] }, { "annotation": "Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" }, { "database": "PubMed", "id": "31973761", "url": "https://glygen.org/publication/PubMed/31973761" } ] }, { "annotation": "HEK293 cells lacking both XT-isoforms are not viable", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" }, { "database": "PubMed", "id": "31677793", "url": "https://glygen.org/publication/PubMed/31677793" } ] }, { "annotation": "The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" } ] }, { "annotation": "Using DNA from affected members of the same 2 families, we performed whole exome sequencing, which revealed 2 novel homozygous missense variants (c.1159C > T, p.Arg387Trp) and (c.2548G > C, p.Asp850His). Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" }, { "database": "PubMed", "id": "29136277", "url": "https://glygen.org/publication/PubMed/29136277" } ] }, { "annotation": "We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. A novel XYLT2 missense mutation was detected in a region evolutionary conserved across the species", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" }, { "database": "PubMed", "id": "30496831", "url": "https://glygen.org/publication/PubMed/30496831" } ] } ], "disease": [ { "disease_id": "DOID:2738", "recommended_name": { "id": "DOID:2738", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system." }, "synonyms": [ { "id": "DOID:2738", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2738", "name": "Gronblad-Strandberg syndrome", "description": "" }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, forme fruste", "description": "An autosomal dominant form of PXE." }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, forme fruste", "description": "" }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, heterozygous", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "autosomal recessive inherited pseudoxanthoma elasticum", "description": "An autosomal recessive form of PXE." }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "AR inherited pseudoxanthoma elasticum", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad-Strandberg syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad-Strandberg-Touraine syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "PXE", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad Strandberg syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "PXE, modifier of severity of", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "pseudoxanthoma elasticum", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "pseudoxanthoma elasticum, modifier of severity of", "description": "" }, { "id": "MIM:264800", "resource": "MIM", "url": "https://www.omim.org/entry/264800", "name": "Pseudoxanthoma elasticum", "description": "Pseudoxanthoma elasticum" } ], "evidence": [ { "id": "264800", "database": "MIM", "url": "https://www.omim.org/entry/264800" } ] }, { "disease_id": "MONDO:0011604", "recommended_name": { "id": "MONDO:0011604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011604", "name": "spondylo-ocular syndrome", "description": "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." }, "synonyms": [ { "id": "MONDO:0011604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011604", "name": "SOS", "description": "" }, { "id": "MONDO:0011604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011604", "name": "spondyloocular syndrome", "description": "" }, { "id": "MIM:605822", "resource": "MIM", "url": "https://www.omim.org/entry/605822", "name": "Spondyloocular syndrome", "description": "Spondyloocular syndrome" } ], "evidence": [ { "id": "0011604", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011604" }, { "id": "605822", "database": "MIM", "url": "https://www.omim.org/entry/605822" }, { "id": "XYLT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/XYLT2/#!details" } ] } ], "snv": [ { "evidence": [ { "id": "rs1459449407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459449407" }, { "id": "rs1459449407", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1459449407#frequency_tab" }, { "id": "rs1459449407", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459449407" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 146, "end_pos": 146, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "17", "chr_pos": "50353931", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139789956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139789956" }, { "id": "rs139789956", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139789956" }, { "id": "rs139789956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139789956#frequency_tab" }, { "id": "rs139789956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139789956" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 154, "end_pos": 154, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "17", "chr_pos": "50353955", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T154", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1027227054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1027227054" }, { "id": "rs1027227054", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1027227054#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 211, "end_pos": 211, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "17", "chr_pos": "50354412", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779732817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779732817" }, { "id": "rs779732817", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779732817" }, { "id": "rs779732817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779732817" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 219, "end_pos": 219, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "17", "chr_pos": "50354434", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1266422858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1266422858" }, { "id": "rs1266422858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1266422858" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 61, "end_pos": 61, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "17", "chr_pos": "50353675", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S61", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1356560112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356560112" }, { "id": "rs1356560112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356560112" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 64, "end_pos": 64, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "17", "chr_pos": "50353685", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T64", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211266718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211266718" }, { "id": "rs1211266718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211266718" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 65, "end_pos": 65, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "17", "chr_pos": "50353687", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D65", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9H1B5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H1B5" }, { "id": "rs1270666079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270666079" }, { "id": "rs1270666079", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270666079" }, { "id": "rs1270666079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270666079" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 67, "end_pos": 67, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->L).", "chr_id": "17", "chr_pos": "50353694", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S67", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", 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"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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9H1B5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H1B5" } ], "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", 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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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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial 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": "Q9H1B5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H1B5" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q9H1B5", "url": 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"database": "BioXpress", "id": "Q9H1B5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H1B5" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "common_name": "Human" } ], "gene": [ { "name": "XYLT2", "url": "https://www.uniprot.org/uniprot/Q9H1B5", "locus": { "chromosome": "17", "start_pos": 50363138, "end_pos": 50346126, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000015532", "url": "https://www.ensembl.org/id/ENSG00000015532" } ] } } ], "crossref": [ { "id": "ENSG00000015532", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000015532", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q9H1B5", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H1B5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "2.4.2.26", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.4.2.26&UniProtAcc=Q9H1B5", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "GT14", "url": "http://www.cazy.org/GT14.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "XYLT2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=XYLT2", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "64132", "url": "https://www.ncbi.nlm.nih.gov/gene/64132", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "15517", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15517", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9H1B5", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9H1B5*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003406", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003406", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024448", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024448", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043538", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043538", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:64132", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:64132", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "264800", "url": "http://www.omim.org/entry/264800", "database": "MIM", "categories": [ "Other" ] }, { "id": "605822", "url": "http://www.omim.org/entry/605822", "database": "MIM", "categories": [ "Other" ] }, { "id": "608125", "url": "http://www.omim.org/entry/608125", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9H1B5", "url": "https://www.nextprot.org/entry/NX_Q9H1B5", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "GIQWDEI", "url": "https://omabrowser.org/oma/group/GIQWDEI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4166917at2759", "url": "http://www.orthodb.org/?query=4166917at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46025", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46025", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46025:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46025:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02485", "url": "http://pfam.xfam.org/family/PF02485", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12529", "url": "http://pfam.xfam.org/family/PF12529", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9H1B5", "url": "https://pharos.nih.gov/targets/Q9H1B5", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000058057", "url": "https://proconsortium.org/app/entry/PR:000058057", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000058058", "url": "https://proconsortium.org/app/entry/PR:000058058", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000058059", "url": "https://proconsortium.org/app/entry/PR:000058059", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000058060", "url": "https://proconsortium.org/app/entry/PR:000058060", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_Q9H1B5", "url": "http://purl.obolibrary.org/obo/PR_Q9H1B5", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "50192", "url": "https://www.rhea-db.org/rhea/50192", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "Q9H1B5", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0C4DFW8", "url": "https://www.uniprot.org/uniprot/A0A0C4DFW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DFW8-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DFW8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DT06", "url": "https://www.uniprot.org/uniprot/B4DT06", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DT06-1", "url": "https://www.uniprot.org/uniprot/B4DT06-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RCT0", "url": "https://www.uniprot.org/uniprot/D6RCT0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RCT0-1", "url": "https://www.uniprot.org/uniprot/D6RCT0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YB00", "url": "https://www.uniprot.org/uniprot/H0YB00", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YB00-1", "url": "https://www.uniprot.org/uniprot/H0YB00-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L3K2", "url": "https://www.uniprot.org/uniprot/I3L3K2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L3K2-1", "url": "https://www.uniprot.org/uniprot/I3L3K2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H1B5-1", "url": "https://www.uniprot.org/uniprot/Q9H1B5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H1B5-2", "url": "https://www.uniprot.org/uniprot/Q9H1B5-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEAGEKGRQRKPRPLDPGEGSKDTDSSAGRRGSTGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALVGAAGFPPHGDTGSVEGAPQPTDNGFTPKCEIVGKDALSALARASTKQCQQEIANVVCLHQAGSLMPKAVPRHCQLTGKMSPGIQWDESQAQQPMDGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHREVVELAQGYDNVRVTPWRMVTIWGGASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLVAQLRQFYTYTLLPAESFFHTVLENSLACETLVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTAFARLSLHHAATAAPPMGTPLCRFEPRGLPSSVHLYFYDDHFQGYLVTQAVQPSAQGPAETLEMWLMPQGSLKLLGRSDQASRLQSLEVGTDWDPKERLFRNFGGLLGPLDEPVAVQRWARGPNLTATVVWIDPTYVVATSYDITVDTETEVTQYKPPLSRPLRPGPWTVRLLQFWEPLGETRFLVLPLTFNRKLPLRKDDASWLHAGPPHNEYMEQSFQGLSSILNLPQPELAEEAAQRHTQLTGPALEAWTDRELSSFWSVAGLCAIGPSPCPSLEPCRLTSWSSLSPDPKSELGPVKADGRLR", "length": 865, "header": "sp|Q9H1B5-1|XYLT2_HUMAN Isoform 1 of Xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=XYLT2 PE=1 SV=2 CANONICAL=Q9H1B5-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DFW8-1", "url": "", "sequence": { "sequence": "MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEAGEKGRQRKPRPLDPGEGSKDTDSSAGRRGSTGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALVGAAGFPPHGDTGSVEGAPQPTDNGFTPKCEIVGKDALSALARASTKQCQQEIANVVCLHQAGSLMPKAVPRHCQLTGKMSPGIQWDESQAQQPMDGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHREVVELAQGYDNVRVTPWRMVTIWGGASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLVAQLRQFYTYTLLPAESFFHTVLENSLACETLVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTAFARLSLHHAATAAPPMGTPLCRLALIGTPKSVFSGTLGGYWGRWTSLWPCSAGPGAPTSQPQWSGSTQPMWWPHLMTSQ", "length": 639, "header": "tr|A0A0C4DFW8-1|XYLT2_HUMAN Computationally mapped isoform of Xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=XYLT2 PE=1 SV=1 CANONICAL=Q9H1B5-1" }, "locus": { "chromosome": "17", "start_pos": 50358378, "end_pos": 50346141, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000376550.7", "url": "https://www.ensembl.org/id/ENST00000376550.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000365733.3", "url": "https://www.ensembl.org/id/ENSP00000365733.3" } ] } }, { "isoform_ac": "B4DT06-1", "url": "", "sequence": { "sequence": "MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEAGEKGRQRKPRPLDPGEGSKDTDSSAGRRGSTGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALVGAAGFPPHGDTGSVEGAPQPTDNGFTPKCEIVGKDALSALARASTKQCQQEIANVVCLHQAGSLMPKAVPRHCQLTGKMSPGIQWDESQAQQPMDGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHREVVELAQGYDNVRVTPWRMVTIWGGASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLVAQLRQFYTYTLLPAESFFHTVLENSLACETLVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTAFARLSLHHAATAAPPMGTPLCRFEPRGLPSSVHLYFYDDHFQGYLVTQAVQPSAQGPAETLEMWLMPQGSLKLLGRSDQASRLQSLENRGLSMLPRLVSNSWPQAVLPLQPPKALG", "length": 676, "header": "tr|B4DT06-1|XYLT2_HUMAN Computationally mapped isoform of Xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=XYLT2 PE=1 SV=1 CANONICAL=Q9H1B5-1" }, "locus": { "chromosome": "17", "start_pos": 50363065, "end_pos": 50346141, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507602.5", "url": "https://www.ensembl.org/id/ENST00000507602.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426501.1", "url": "https://www.ensembl.org/id/ENSP00000426501.1" } ] } }, { "isoform_ac": "D6RCT0-1", "url": "", "sequence": { "sequence": "MVASARVQKLVRRYKLAIATALAILLLQGLKGRQRKPRPLDPGEG", "length": 45, "header": "tr|D6RCT0-1|XYLT2_HUMAN Computationally mapped isoform of Xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=XYLT2 PE=1 SV=1 CANONICAL=Q9H1B5-1" }, "locus": { "chromosome": "17", "start_pos": 50353674, "end_pos": 50346141, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509778.1", "url": "https://www.ensembl.org/id/ENST00000509778.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425511.1", "url": "https://www.ensembl.org/id/ENSP00000425511.1" } ] } }, { "isoform_ac": "H0YB00-1", "url": "", "sequence": { "sequence": "CQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTAFARLSLHHAATAAPPMGTPLCRATW", "length": 117, "header": "tr|H0YB00-1|XYLT2_HUMAN Computationally mapped isoform of Xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=XYLT2 PE=1 SV=1 CANONICAL=Q9H1B5-1" }, "locus": { "chromosome": "17", "start_pos": 50357127, "end_pos": 50356184, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511654.1", "url": "https://www.ensembl.org/id/ENST00000511654.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000428350.1", "url": "https://www.ensembl.org/id/ENSP00000428350.1" } ] } }, { "isoform_ac": "I3L3K2-1", "url": "", "sequence": { "sequence": "ETLEMWLMPQGSLKLLGRSDQASRLQSLEVGQVPHLLSPNPHPDLG", "length": 46, "header": "tr|I3L3K2-1|XYLT2_HUMAN Computationally mapped isoform of Xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=XYLT2 PE=1 SV=1 CANONICAL=Q9H1B5-1" }, "locus": { "chromosome": "17", "start_pos": 50357303, "end_pos": 50357166, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574840.1", "url": "https://www.ensembl.org/id/ENST00000574840.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000460517.1", "url": "https://www.ensembl.org/id/ENSP00000460517.1" } ] } }, { "isoform_ac": "Q9H1B5-1", "url": "", "sequence": { "sequence": "MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEAGEKGRQRKPRPLDPGEGSKDTDSSAGRRGSTGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALVGAAGFPPHGDTGSVEGAPQPTDNGFTPKCEIVGKDALSALARASTKQCQQEIANVVCLHQAGSLMPKAVPRHCQLTGKMSPGIQWDESQAQQPMDGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHREVVELAQGYDNVRVTPWRMVTIWGGASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLVAQLRQFYTYTLLPAESFFHTVLENSLACETLVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTAFARLSLHHAATAAPPMGTPLCRFEPRGLPSSVHLYFYDDHFQGYLVTQAVQPSAQGPAETLEMWLMPQGSLKLLGRSDQASRLQSLEVGTDWDPKERLFRNFGGLLGPLDEPVAVQRWARGPNLTATVVWIDPTYVVATSYDITVDTETEVTQYKPPLSRPLRPGPWTVRLLQFWEPLGETRFLVLPLTFNRKLPLRKDDASWLHAGPPHNEYMEQSFQGLSSILNLPQPELAEEAAQRHTQLTGPALEAWTDRELSSFWSVAGLCAIGPSPCPSLEPCRLTSWSSLSPDPKSELGPVKADGRLR", "length": 865, "header": "sp|Q9H1B5-1|XYLT2_HUMAN Isoform 1 of Xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=XYLT2 PE=1 SV=2 CANONICAL=Q9H1B5-1" }, "locus": { "chromosome": "17", "start_pos": 50360288, "end_pos": 50346141, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000017003.7", "url": "https://www.ensembl.org/id/ENST00000017003.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000017003.2", "url": "https://www.ensembl.org/id/ENSP00000017003.2" } ] } }, { "isoform_ac": "Q9H1B5-2", "url": "", "sequence": { "sequence": "MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEAGEKGRQRKPRPLDPGEGSKDTDSSAGRRGSTGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALVGAAGFPPHGDTGSVEGAPQPTDNGFTPKCEIVGKDALSALARASTKQCQQEIANVVCLHQAGSLMPKAVPRHCQLTGKMSPGIQWDESQAQQPMDGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHREVVELAQGYDNVRVTPWRMVTIWGGASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLVAQLRQFYTYTLLPAESFFHTVLENSLACETLVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTAFARLSLHHAATAAPPMGTPLCRLALIGTPKSVFSGTLGGYWGRWTSLWPCSAGPGAPTSQPQWSGSTQPMWWPHLMTS", "length": 638, "header": "sp|Q9H1B5-2|XYLT2_HUMAN Isoform 2 of Xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=XYLT2 PE=1 SV=2 CANONICAL=Q9H1B5-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) 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Commun.", "date": "2008", "authors": "Casanova JC, Kuhn J, Kleesiek K, Gotting C", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "reference": [ { "type": "PubMed", "id": "18023272", "url": "https://glygen.org/publication/PubMed/18023272" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "Q9H1B5", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Xylosyltransferase II is the predominant isoenzyme which is responsible for the steady-state level of xylosyltransferase activity in human serum.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2015", "authors": "Kuhn J, Gotting C, Beahm BJ, Bertozzi CR, Faust I, Kuzaj P, Knabbe C, Hendig D", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "reference": [ { "type": "PubMed", "id": "25748573", "url": "https://glygen.org/publication/PubMed/25748573" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "Q9H1B5", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.", "journal": "Am. J. Hum. Genet.", "date": "2015", "authors": "Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "reference": [ { "type": "PubMed", "id": "26027496", "url": "https://glygen.org/publication/PubMed/26027496" } ] }, { "title": "Homozygous XYLT2 variants as a cause of spondyloocular syndrome.", "journal": "Clinical genetics", "date": "2018", "authors": "Umair M, Eckstein G, Rudolph G, Strom T, Graf E, Hendig D, Hoover J, Alanay J, Meitinger T, Schmidt H, Ahmad W", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" } ], "reference": [ { "type": "PubMed", "id": "29136277", "url": "https://glygen.org/publication/PubMed/29136277" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "Q9H1B5", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Intrafamilial variability of XYLT2-related spondyloocular syndrome.", "journal": "European journal of medical genetics", "date": "2019", "authors": "Guleray N, Simsek Kiper PO, Utine GE, Boduroglu K, Alikasifoglu M", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" } ], "reference": [ { "type": "PubMed", "id": "30496831", "url": "https://glygen.org/publication/PubMed/30496831" } ] }, { "title": "Xylosyltransferase-deficient human HEK293cells show a strongly reduced proliferation capacity and viability.", "journal": "Biochemical and biophysical research communications", "date": "2020", "authors": "Fischer B, Ly TD, Schmidt V, Hendig D, Kuhn J, Knabbe C, Faust I", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" } ], "reference": [ { "type": "PubMed", "id": "31677793", "url": "https://glygen.org/publication/PubMed/31677793" } ] }, { "title": "Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis.", "journal": "Journal of orthopaedic surgery and research", "date": "2020", "authors": "Bernstein A, Reichert SNA, Sudkamp NP, Hernandez SL, Nerlich AG, Kuhle J, Mayr HO", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" } ], "reference": [ { "type": "PubMed", "id": "31973761", "url": "https://glygen.org/publication/PubMed/31973761" } ] }, { "title": "Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide.", "journal": "Biochimie", "date": "2021", "authors": "Fischer B, Kuhn J, Ly TD, Schmidt V, Kleine A, Hendig D, Knabbe C, Faust I", "evidence": [ { "database": "RefSeq", "id": "NP_071450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071450" } ], "reference": [ { "type": "PubMed", "id": "33609631", "url": "https://glygen.org/publication/PubMed/33609631" } ] }, { "title": "Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kitagawa H, Tone Y, Tamura J, Neumann KW, Ogawa T, Oka S, Kawasaki T, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "9506957", "url": "https://glygen.org/publication/PubMed/9506957" } ] }, { "title": "A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Zhou D, Dinter A, Gutierrez Gallego R, Kamerling JP, Vliegenthart JF, Berger EG, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "9892646", "url": "https://glygen.org/publication/PubMed/9892646" } ] } ], "pathway": [ { "id": "hsa:64132", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:64132", "resource": "KEGG Pathway" }, { "id": "R-HSA-1971475", "name": "A tetrasaccharide linker sequence is required for GAG synthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475", "resource": "Reactome", "description": "A tetrasaccharide linker sequence is required for GAG synthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9EPI0-1", "protein_name": "Xylosyltransferase 2", "gene_name": "Xylt2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEPGEKGRQRKPRPLDPGEGSKDTDSSAGRRGSAGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALIGAAGFPQHGDTGSVEGAPQPTDNSFTPKCEIVGKDALSALARASTKHCQQEIANVVCLHQAGNLMPKSVPRHCQLAGKVSPGIQWEEVRAQQPVSGPLVRIAYMLVVHGRAVRQLKRLLKAVYHEEHFFYIHVDKRSNYLYREVVELAQHYDNVRVTPWRMVTIWGGASLLRMYLRSMKDLLETPGWTWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTEDPLVAQLRQFYTYTLLPAESFFHTVLENSPACESLVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENIYDMADGPSGLSDVLLTAYTAFARISLRHAATVSPLATAVCRFEPRGLPSSVHLYFYDDHFQGYLVTQAVQPSAQGPAETLEMWLMPQRLLKPLGHSDQASRLQSLEVGTEWDPKERLFRNFGGLLGPLDEPVAMQRWARGPNLTATVVWIDPTYVVATSYDITVDADTEVTQYKPPLSLPLRPGAWTVRLLQFWEPLGETRFLVLPLTFNHKLPLRKDDASWLHAGPPHNEYMEQSFQGLSGILNLPQPEAVEEAARRHTELTGPALEAWTDGELSSFWSVAGLCAIGPSSCPSLELCRLTSWSSLSPDPKSELGPVKADGRLR", "length": 864 }, "evidence": [ { "id": "45239108", "url": "http://www.informatics.jax.org/homology/45239108", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9EPL0-1", "protein_name": "Xylosyltransferase 2", "gene_name": "Xylt2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEPGEKGRQRKPRPLDPGEGSKDTDSSAGRRGSAGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALIGAPGFPQHGDTGSVEGAPQPTDNTFTPKCEIVGKDALSALARASTKQCQQEIANVVCLHQAGNLMPKSVPRHCQLAGKMSPGVQWEEIRAQQPVGGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSNYLYREVVELAQHYENVRVTPWRMVTIWGGASLLRMYLRSMKDLLEIPGWTWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLVAQLRQFYTYTLLPAESFFHTVLENSPACASLVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPSTPALKAYWENIYDVADGPGGLSDVLLTAYTAFARLSLRHAATAVSPLATAVCRFEPRGLPSSVHLYFYDDHFQGYLVTQAVQPSAQGPAETLEMWLMPQRSLKLLGHSDQASRLQSLEVGTEWDPKERLFRNFGGLLGPLDEPVAMQRWARGPNLTATVVWIDPTYVVATSYDITVDADTEVTQYKPPLSLPLRPGAWTVRLLQFWEPLGETRFLVLPLTFNRKLPLRKDDASWLHAGPPHNEYMEQSFQGLSGILNLPQAEALEEAARRHTELTGSALEAWTDGELSNFWSVAGLCAIGPSACPSLELCRLTSWSSLSPDPKSELGPVKADGRLR", "length": 865 }, "evidence": [ { "id": "45239108", "url": "http://www.informatics.jax.org/homology/45239108", "database": "MGI" }, { "id": "Q9H1B5", "url": "https://omabrowser.org/oma/group/Q9H1B5/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "protein xylosyltransferase activity", "id": "GO:0030158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030158", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "heparan sulfate proteoglycan biosynthetic process", "id": "GO:0015012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015012", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "chondroitin sulfate biosynthetic process", "id": "GO:0030206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030206", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "glycosaminoglycan biosynthetic process", "id": "GO:0006024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "glycosaminoglycan metabolic process", "id": "GO:0030203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030203", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "heparin biosynthetic process", "id": "GO:0030210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030210", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "chondroitin sulfate proteoglycan biosynthetic process", "id": "GO:0050650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050650", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" }, { "name": "proteoglycan biosynthetic process", "id": "GO:0030166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030166", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "xylosyltransferase 2 O-glycosylated 1 (human)", "definition": "A xylosyltransferase 2 (human) that has been O-glycosylated at the residue equivalent to Ser-777 of the amino acid sequence represented by UniProtKB:Q9H1B5-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9H1B5-1, Ser-777, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058057", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058057" } ] }, { "name": "xylosyltransferase 2 O-glycosylated 2 (human)", "definition": "A xylosyltransferase 2 (human) that has been O-glycosylated at the residue equivalent to Ser-782 of the amino acid sequence represented by UniProtKB:Q9H1B5-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9H1B5-1, Ser-782, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058058", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058058" } ] }, { "name": "xylosyltransferase 2 O-glycosylated 3 (human)", "definition": "A xylosyltransferase 2 (human) that has been O-glycosylated at the residue equivalent to Ser-783 of the amino acid sequence represented by UniProtKB:Q9H1B5-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9H1B5-1, Ser-783, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058059", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058059" } ] }, { "name": "xylosyltransferase 2 O-glycosylated 4 (human)", "definition": "A xylosyltransferase 2 (human) that has been O-glycosylated at the residue equivalent to Thr-154 of the amino acid sequence represented by UniProtKB:Q9H1B5-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9H1B5-1, Thr-154, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058060", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058060" } ] } ], "site_annotation": [ { "start_pos": 122, "end_pos": 124, "annotation": "n_glycosylation_sequon" }, { "start_pos": 327, "end_pos": 329, "annotation": "n_glycosylation_sequon" }, { "start_pos": 683, "end_pos": 685, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Contains disulfide bonds.", "evidence": [ { "database": "UniProtKB", "id": "Q9H1B5", "url": "https://www.uniprot.org/uniprot/Q9H1B5" }, { "database": "PubMed", "id": "Q86Y38", "url": "https://glygen.org/publication/PubMed/Q86Y38" } ] } ], "interactions": [], "reactions": [ { "id": "50192", "name": "", "equation": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9EPI0-1", "Q9EPI1-1", "Q9H1B5-1", "Q86Y38-1", "Q811B1-1", "Q9EPL0-1", "Q55CU3-1", "Q55DR5-1", "Q55F91-1", "Q7KVA1-1" ], "evidence": [ { "id": "50192", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50192" } ] }, { "id": "R-HSA-1878002", "name": "XYLTs transfer Xyl to core protein", "equation": "", "summary": "Xylosyltransferases (XYLT1, XYLT2) catalyse the initial step in the tetrasaccharide linkage required for glycosaminoglycan biosynthesis. This reaction can take place in the Golgi apparatus and endoplasmic reticulum (not shown here). XYLTs mediates the transfer of xylose from the active nucleotide sugar UDP-xylose to specific serine hydroxy groups in the core protein. A C-terminal DxD motif on the enzyme is thought to be critical for activity (Muller et al. 2005, Goetting et al. 2004, Voglmeir et al. 2007).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-742361" ], "output_participant_list": [], "enzyme_list": [ "Q86Y38-1", "Q9H1B5-1" ], "evidence": [ { "id": "R-HSA-1878002", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1878002" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-742361", "participant_name": "UDP-Xyl [Golgi lumen]", "crossref": [ { "id": "000008551129", "database": "ZINC", "url": "" }, { "id": "57632", "database": "ChEBI", "url": "" }, { "id": "57632", "database": "ChEBI", "url": "" }, { "id": "000008551129", "database": "ZINC", "url": "" }, { "id": "57632", "database": "ChEBI", "url": "" }, { "id": "000008551129", "database": "ZINC", "url": "" }, { "id": "57632", "database": "ChEBI", "url": "" }, { "id": "000008551129", "database": "ZINC", "url": "" }, { "id": "57632", "database": "ChEBI", "url": "" }, { "id": "000008551129", "database": "ZINC", "url": "" }, { "id": "57632", "database": "ChEBI", "url": "" }, { "id": "000008551129", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "Q55CU3", "gene_name": "gnt10", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q55CU3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55CU3" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q55CU3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55CU3" } ] } ] }, { "uniprot_ac": "Q55DR5", "gene_name": "gnt11", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q55DR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55DR5" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q55DR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55DR5" } ] } ] }, { "uniprot_ac": "Q55F91", "gene_name": "gnt9", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q55F91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55F91" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q55F91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55F91" } ] } ] }, { "uniprot_ac": "Q7KVA1", "gene_name": "oxt", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q7KVA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KVA1" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q7KVA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KVA1" } ] } ] }, { "uniprot_ac": "Q811B1", "gene_name": "Xylt1", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q811B1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q811B1" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q811B1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q811B1" } ] } ] }, { "uniprot_ac": "Q86Y38", "gene_name": "XYLT1", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q86Y38", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86Y38" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q86Y38", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86Y38" } ] } ] }, { "uniprot_ac": "Q9EPI0", "gene_name": "Xylt2", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9EPI0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EPI0" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q9EPI0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EPI0" } ] } ] }, { "uniprot_ac": "Q9EPI1", "gene_name": "Xylt1", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9EPI1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EPI1" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q9EPI1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EPI1" } ] } ] }, { "uniprot_ac": "Q9EPL0", "gene_name": "Xylt2", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9EPL0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EPL0" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q9EPL0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EPL0" } ] } ] }, { "uniprot_ac": "Q9H1B5", "gene_name": "XYLT2", "activity": [ { "ec_number": "2.4.2.26", "activity": "L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9H1B5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ] }, { "ec_number": "2.4.2.26", "activity": "", "evidence": [ { "id": "Q9H1B5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H1B5" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 20 }, { "field": "total_sites", "count": 15 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 12 } ], "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": 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"site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 15 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 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", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 27 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }