{ "uniprot_canonical_ac": "O95196-1", "uniprot_ac": "O95196", "uniprot_id": "CSPG5_HUMAN", "mass": { "chemical_mass": 60016.0, "monoisotopic_mass": 60016.0 }, "refseq": { "ac": "NP_001193873", "name": "chondroitin sulfate proteoglycan 5 isoform 4 precursor", "summary": "The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873" }, "gene_names": [ { "name": "CSPG5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95196", "id": "O95196" }, { "name": "CALEB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95196", "id": "O95196" }, { "name": "CSPG5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873", "id": "NP_001193873" }, { "name": "NGC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873", "id": "NP_001193873" }, { "name": "NGC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95196", "id": "O95196" } ], "protein_names": [ { "name": "Chondroitin sulfate proteoglycan 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95196" }, { "name": "Acidic leucine-rich EGF-like domain-containing brain protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95196" }, { "name": "Neuroglycan C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95196" }, { "name": "acidic leucine-rich EGF-like domain-containing brain protein; chondroitin sulfate proteoglycan 5 (neuroglycan C)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873", "id": "NP_001193873" }, { "name": "chondroitin sulfate proteoglycan 5 isoform 4 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873", "id": "NP_001193873" } ], "function": [ { "annotation": "Chondroitin sulfate proteoglycan-5 forms perisynaptic matrix assemblies in the adult rat cortex.", "evidence": [ { "database": "RefSeq", "id": "NP_001193873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873" }, { "database": "PubMed", "id": "32653642", "url": "https://glygen.org/publication/PubMed/32653642" } ] }, { "annotation": "May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation.", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196#function" }, { "database": "PubMed", "id": "15358134", "url": "https://glygen.org/publication/PubMed/15358134" } ] }, { "annotation": "NGC IV, which was first found in the present study, had the shortest cytoplasmic domain among the four variants", "evidence": [ { "database": "RefSeq", "id": "NP_001193873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873" }, { "database": "PubMed", "id": "16299773", "url": "https://glygen.org/publication/PubMed/16299773" } ] }, { "annotation": "Neuroglycan C is a novel component of midkine receptors involved in process elongation", "evidence": [ { "database": "RefSeq", "id": "NP_001193873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873" }, { "database": "PubMed", "id": "16901907", "url": "https://glygen.org/publication/PubMed/16901907" } ] }, { "annotation": "Results suggest that NGC may be a novel candidate gene, and neuregulin signaling pathways may play an important role in schizophrenia GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001193873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873" }, { "database": "PubMed", "id": "19367581", "url": "https://glygen.org/publication/PubMed/19367581" } ] }, { "annotation": "The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001193873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1223984155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223984155" }, { "id": "rs1223984155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1223984155#frequency_tab" }, { "id": "rs1223984155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223984155" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "3", "chr_pos": "47577676", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766254155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766254155" }, { "id": "rs766254155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766254155" }, { "id": "rs766254155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766254155#frequency_tab" }, { "id": "rs766254155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766254155" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 162, "end_pos": 162, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "3", "chr_pos": "47577541", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761712822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761712822" }, { "id": "rs761712822", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761712822" }, { "id": "rs761712822", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761712822" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 239, "end_pos": 239, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHP->NHT).", "chr_id": "3", "chr_pos": "47577311", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95196", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95196" }, { "id": "rs1460266028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460266028" }, { "id": "rs1460266028", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460266028" }, { "id": "rs1460266028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460266028" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 261, "end_pos": 261, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "3", "chr_pos": "47577245", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D261", "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": 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mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TGT->NGT).", "chr_id": "3", "chr_pos": "47577739", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T96", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "50.25", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000114646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114646" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000114646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114646" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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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": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"description": "" }, { "id": "MONDO: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": "O95196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95196" } ], "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/O95196" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95196" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"https://www.reactome.org/PathwayBrowser/#R-HSA-3595172", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3595174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595174", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3595177", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595177", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4420332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420332", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001193873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O95196", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A087WUT8", "url": "https://www.uniprot.org/uniprot/A0A087WUT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WUT8-1", "url": "https://www.uniprot.org/uniprot/A0A087WUT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95196-1", "url": "https://www.uniprot.org/uniprot/O95196-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95196-2", "url": "https://www.uniprot.org/uniprot/O95196-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95196-3", "url": "https://www.uniprot.org/uniprot/O95196-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGRAGGGGPGRGPPPLLLFLGAALVLASGAVPAREAGSAVEAEELVKGSPAWEPPANDTREEAGPPAAGEDEASWTAPGGELAGPEEVLQESAAVTGTAWLEADSPGLGGVTAEAGSGDAQALPATLQAPHEVLGQSIMPPAIPEATEASGPPSPTPGDKLSPASELPKESPLEVWLNLGGSTPDPQGPELTYPFQGTLEPQPASDIIDIDYFEGLDGEGRGADLGSFPGSPGTSENHPDTEGETPSWSLLDLYDDFTPFDESDFYPTTSFYDDLDEEEEEEEDDKDAVGGGDLEDENELLVPTGKPGLGPGTGQPTSRWHAVPPQHTLGSVPGSSIALRPRPGEPGRDLASSENGTECRSGFVRHNGSCRSVCDLFPSYCHNGGQCYLVENIGAFCRCNTQDYIWHKGMRCESIITDFQVMCVAVGSAALVLLLLFMMTVFFAKKLYLLKTENTKLRRTNKFRTPSELHNDNFSLSTIAEGSHPNVRKLCNTPRTSSPHARALAHYDNVICQDDPSAPHKIQEVLKSCLKEEESFNIQNSMSPKLEGGKGDQADLDVNCLQNNLT", "length": 566, "header": "sp|O95196-1|CSPG5_HUMAN Isoform 1 of Chondroitin sulfate proteoglycan 5 OS=Homo sapiens OX=9606 GN=CSPG5 PE=1 SV=3 CANONICAL=O95196-1" }, "isoforms": [ { "isoform_ac": "A0A087WUT8-1", "url": "", "sequence": { "sequence": "MGRAGGGGPGRGPPPLLLFLGAALVLASGAVPAREAGSAVEAEELVKGSPAWEPPANDTREEAGPPAAGEDEASWTAPGGELAGPEEVLQESAAVTGTAWLEADSPGLGGVTAEAGSGDAQALPATLQAPHEVLGQSIMPPAIPEATEASGPPSPTPGDKLSPASELPKESPLEVWLNLGGSTPDPQGPELTYPFQGTLEPQPASDIIDIDYFEGLDGEGRGADLGSFPGSPGTSENHPDTEGETPSWSLLDLYDDFTPFDESDFYPTTSFYDDLDEEEEEEEDDKDAVGGGDLEDENELLVPTGKPGLGPGTGQPTSRWHAVPPQHTLGSVPGSSIALRPRPGEPGRDLASSENGTECRSGFVRHNGSCRSVCDLFPSYCHNGGQCYLVENIGAFCRCNTQDYIWHKGMRCESIITDFQVMCVAVGSAALVLLLLFMMTVFFAKKLYLLKTENTKLRRTKMILVLPTKSRRFSSPA", "length": 477, "header": "tr|A0A087WUT8-1|CSPG5_HUMAN Computationally mapped isoform of Chondroitin sulfate proteoglycan 5 OS=Homo sapiens OX=9606 GN=CSPG5 PE=1 SV=1 CANONICAL=O95196-1" }, "locus": { "chromosome": "3", "start_pos": 47578693, "end_pos": 47562713, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610462.1", "url": "https://www.ensembl.org/id/ENST00000610462.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000478923.1", "url": "https://www.ensembl.org/id/ENSP00000478923.1" } ] } }, { "isoform_ac": "O95196-1", "url": "", "sequence": { "sequence": "MGRAGGGGPGRGPPPLLLFLGAALVLASGAVPAREAGSAVEAEELVKGSPAWEPPANDTREEAGPPAAGEDEASWTAPGGELAGPEEVLQESAAVTGTAWLEADSPGLGGVTAEAGSGDAQALPATLQAPHEVLGQSIMPPAIPEATEASGPPSPTPGDKLSPASELPKESPLEVWLNLGGSTPDPQGPELTYPFQGTLEPQPASDIIDIDYFEGLDGEGRGADLGSFPGSPGTSENHPDTEGETPSWSLLDLYDDFTPFDESDFYPTTSFYDDLDEEEEEEEDDKDAVGGGDLEDENELLVPTGKPGLGPGTGQPTSRWHAVPPQHTLGSVPGSSIALRPRPGEPGRDLASSENGTECRSGFVRHNGSCRSVCDLFPSYCHNGGQCYLVENIGAFCRCNTQDYIWHKGMRCESIITDFQVMCVAVGSAALVLLLLFMMTVFFAKKLYLLKTENTKLRRTNKFRTPSELHNDNFSLSTIAEGSHPNVRKLCNTPRTSSPHARALAHYDNVICQDDPSAPHKIQEVLKSCLKEEESFNIQNSMSPKLEGGKGDQADLDVNCLQNNLT", "length": 566, "header": "sp|O95196-1|CSPG5_HUMAN Isoform 1 of Chondroitin sulfate proteoglycan 5 OS=Homo sapiens OX=9606 GN=CSPG5 PE=1 SV=3 CANONICAL=O95196-1" }, "locus": { "chromosome": "3", "start_pos": 47578693, "end_pos": 47562603, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383738.6", "url": "https://www.ensembl.org/id/ENST00000383738.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000373244.2", "url": "https://www.ensembl.org/id/ENSP00000373244.2" } ] } }, { "isoform_ac": "O95196-2", "url": "", "sequence": { "sequence": "MGRAGGGGPGRGPPPLLLFLGAALVLASGAVPAREAGSAVEAEELVKGSPAWEPPANDTREEAGPPAAGEDEASWTAPGGELAGPEEVLQESAAVTGTAWLEADSPGLGGVTAEAGSGDAQALPATLQAPHEVLGQSIMPPAIPEATEASGPPSPTPGDKLSPASELPKESPLEVWLNLGGSTPDPQGPELTYPFQGTLEPQPASDIIDIDYFEGLDGEGRGADLGSFPGSPGTSENHPDTEGETPSWSLLDLYDDFTPFDESDFYPTTSFYDDLDEEEEEEEDDKDAVGGGDLEDENELLVPTGKPGLGPGTGQPTSRWHAVPPQHTLGSVPGSSIALRPRPGEPGRDLASSENGTECRSGFVRHNGSCRSVCDLFPSYCHNGGQCYLVENIGAFCRCNTQDYIWHKGMRCESIITDFQVMCVAVGSAALVLLLLFMMTVFFAKKLYLLKTENTKLRRTNKFRTPSELHNDNFSLSTIAEGSHPNDDPSAPHKIQEVLKSCLKEEESFNIQNSMSPKLEGGKGDQADLDVNCLQNNLT", "length": 539, "header": "sp|O95196-2|CSPG5_HUMAN Isoform 2 of Chondroitin sulfate proteoglycan 5 OS=Homo sapiens OX=9606 GN=CSPG5 PE=1 SV=3 CANONICAL=O95196-1" }, "locus": { "chromosome": 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47577611, "end_pos": 47562603, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456150.5", "url": "https://www.ensembl.org/id/ENST00000456150.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000392096.1", "url": "https://www.ensembl.org/id/ENSP00000392096.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) 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(chondroitin sulfate) serine", "start_pos": 38, "start_aa": "Ser", "end_pos": 38, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser38", "evidence": [ { "id": "O95196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95196#ptm_processing" }, { "id": "25326458", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25326458" }, { "id": "37453717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453717" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 57, "start_aa": "Asn", "end_pos": 57, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn57", "evidence": [ { "id": "O95196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95196#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95196", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95196" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 467, "end_pos": 467, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196" } ], "site_lbl": "Ser467" }, { "start_pos": 475, "end_pos": 475, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196" } ], "site_lbl": "Ser475" }, { "start_pos": 483, "end_pos": 483, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196" } ], "site_lbl": "Ser483" }, { "start_pos": 543, "end_pos": 543, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196" } ], "site_lbl": "Ser543" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O95196", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Molecular cloning and characterization of a human uronyl 2-sulfotransferase that sulfates iduronyl and glucuronyl residues in dermatan/chondroitin sulfate.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kobayashi M, Sugumaran G, Liu J, Shworak NW, Silbert JE, Rosenberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "10187838", "url": "https://glygen.org/publication/PubMed/10187838" } ] }, { "title": "Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Almeida R, Levery SB, Mandel U, Kresse H, Schwientek T, Bennett EP, Clausen H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10473568", "url": "https://glygen.org/publication/PubMed/10473568" } ] }, { "title": "Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Okajima T, Fukumoto S, Furukawa K, Urano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10506123", "url": "https://glygen.org/publication/PubMed/10506123" } ] }, { "title": "Molecular cloning and expression of a novel chondroitin 6-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kitagawa H, Fujita M, Ito N, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "10781596", "url": "https://glygen.org/publication/PubMed/10781596" } ] }, { "title": "Molecular cloning and expression of two distinct human chondroitin 4-O-sulfotransferases that belong to the HNK-1 sulfotransferase gene family.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hiraoka N, Nakagawa H, Ong E, Akama TO, Fukuda MN, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "10781601", "url": "https://glygen.org/publication/PubMed/10781601" } ] }, { "title": "Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ouzzine M, Gulberti S, Netter P, Magdalou J, Fournel-Gigleux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10842173", "url": "https://glygen.org/publication/PubMed/10842173" } ] }, { "title": "Biosynthesis of decorin and glypican.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2000", "authors": "Fransson LA, Belting M, Jonsson M, Mani K, Moses J, Oldberg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "10963998", "url": "https://glygen.org/publication/PubMed/10963998" } ] }, { "title": "Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase.", "journal": "Journal of biochemistry", "date": "2000", "authors": "Okuda T, Mita S, Yamauchi S, Matsubara T, Yagi F, Yamamori D, Fukuta M, Kuroiwa A, Matsuda Y, Habuchi O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "11056388", "url": "https://glygen.org/publication/PubMed/11056388" } ] }, { "title": "Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11099377", "url": "https://glygen.org/publication/PubMed/11099377" } ] }, { "title": "Molecular cloning and expression of an N-acetylgalactosamine-4-O-sulfotransferase that transfers sulfate to terminal and non-terminal beta 1,4-linked N-acetylgalactosamine.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kang HG, Evers MR, Xia G, Baenziger JU, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "11139592", "url": "https://glygen.org/publication/PubMed/11139592" } ] }, { "title": "The glucuronyl C5-epimerase activity is the limiting factor in the dermatan sulfate biosynthesis.", "journal": "Archives of biochemistry and biophysics", "date": "2001", "authors": "Tiedemann K, Larsson T, Heinegard D, Malmstrom A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "11414686", "url": "https://glygen.org/publication/PubMed/11414686" } ] }, { "title": "Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Evers MR, Xia G, Kang HG, Schachner M, Baenziger JU", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "11470797", "url": "https://glygen.org/publication/PubMed/11470797" } ] }, { "title": "Molecular cloning and expression of a human chondroitin synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kitagawa H, Uyama T, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "11514575", "url": "https://glygen.org/publication/PubMed/11514575" } ] }, { "title": "Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Bai X, Zhou D, Brown JR, Crawford BE, Hennet T, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11551958", "url": "https://glygen.org/publication/PubMed/11551958" } ] }, { "title": "Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Uyama T, Kitagawa H, Tamura Ji J, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "11788602", "url": "https://glygen.org/publication/PubMed/11788602" } ] }, { "title": "Molecular cloning and characterization of chondroitin-4-O-sulfotransferase-3. A novel member of the HNK-1 family of sulfotransferases.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang HG, Evers MR, Xia G, Baenziger JU, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12080076", "url": "https://glygen.org/publication/PubMed/12080076" } ] }, { "title": "Molecular cloning and characterization of a novel chondroitin sulfate glucuronyltransferase that transfers glucuronic acid to N-acetylgalactosamine.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Gotoh M, Yada T, Sato T, Akashima T, Iwasaki H, Mochizuki H, Inaba N, Togayachi A, Kudo T, Watanabe H, Kimata K, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12145278", "url": "https://glygen.org/publication/PubMed/12145278" } ] }, { "title": "Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Gotoh M, Sato T, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Zhang Y, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Nishihara S, Watanabe H, Kimata K, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12163485", "url": "https://glygen.org/publication/PubMed/12163485" } ] }, { "title": "Biosynthesis of chondroitin/dermatan sulfate.", "journal": "IUBMB life", "date": "2002", "authors": "Silbert JE, Sugumaran G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "12512856", "url": "https://glygen.org/publication/PubMed/12512856" } ] }, { "title": "Cloning, characterization, and chromosome mapping of the human GlcAT-S gene.", "journal": "Journal of human genetics", "date": "2002", "authors": "Marcos I, Galan JJ, Borrego S, Antinolo G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "12522689", "url": "https://glygen.org/publication/PubMed/12522689" } ] }, { "title": "A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder.", "journal": "Molecular psychiatry", "date": "2003", "authors": "Goossens D, Van Gestel S, Claes S, De Rijk P, Souery D, Massat I, Van den Bossche D, Backhovens H, Mendlewicz J, Van Broeckhoven C, Del-Favero J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "12556911", "url": "https://glygen.org/publication/PubMed/12556911" } ] }, { "title": "Chondroitin sulfate synthase-2. Molecular cloning and characterization of a novel human glycosyltransferase homologous to chondroitin sulfate glucuronyltransferase, which has dual enzymatic activities.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Yada T, Gotoh M, Sato T, Shionyu M, Go M, Kaseyama H, Iwasaki H, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Watanabe H, Narimatsu H, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12761225", "url": "https://glygen.org/publication/PubMed/12761225" } ] }, { "title": "A unique nonreducing terminal modification of chondroitin sulfate by N-acetylgalactosamine 4-sulfate 6-o-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ohtake S, Kimata K, Habuchi O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12874280", "url": "https://glygen.org/publication/PubMed/12874280" } ] }, { "title": "CALEB/NGC interacts with the Golgi-associated protein PIST.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Hassel B, Schreff M, Stube EM, Blaich U, Schumacher S", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196" } ], "reference": [ { "type": "PubMed", "id": "12885772", "url": "https://glygen.org/publication/PubMed/12885772" } ] }, { "title": "Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.", "journal": "Journal of inorganic biochemistry", "date": "2003", "authors": "Chruszcz M, Laidler P, Monkiewicz M, Ortlund E, Lebioda L, Lewinski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "12888274", "url": "https://glygen.org/publication/PubMed/12888274" } ] }, { "title": "Chondroitin sulfate synthase-3. Molecular cloning and characterization.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Yada T, Sato T, Kaseyama H, Gotoh M, Iwasaki H, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Watanabe H, Narimatsu H, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" } ], "reference": [ { "type": "PubMed", "id": "12907687", "url": "https://glygen.org/publication/PubMed/12907687" } ] }, { "title": "Structural basis for acceptor substrate recognition of a human glucuronyltransferase, GlcAT-P, an enzyme critical in the biosynthesis of the carbohydrate epitope HNK-1.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kakuda S, Shiba T, Ishiguro M, Tagawa H, Oka S, Kajihara Y, Kawasaki T, Wakatsuki S, Kato R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "14993226", "url": "https://glygen.org/publication/PubMed/14993226" } ] }, { "title": "A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.", "journal": "American journal of medical genetics. Part A", "date": "2004", "authors": "Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783" } ], "reference": [ { "type": "PubMed", "id": "15211654", "url": "https://glygen.org/publication/PubMed/15211654" } ] }, { "title": "Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Hohne W, Ritter H, Leschik G, Nurnberg P, Mundlos S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3595172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595172" } ], "reference": [ { "type": "PubMed", "id": "15215498", "url": "https://glygen.org/publication/PubMed/15215498" } ] }, { "title": "Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Gotting C, Muller S, Schottler M, Schon S, Prante C, Brinkmann T, Kuhn J, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "15294915", "url": "https://glygen.org/publication/PubMed/15294915" } ] }, { "title": "Neuroglycan C, a novel member of the neuregulin family.", "journal": "Biochemical and biophysical research communications", "date": "2004-09-03", "authors": "Kinugasa Yumi, Ishiguro Hiroshi, Tokita Yoshihito, Oohira Atsuhiko, Ohmoto Hiroshi, Higashiyama Shigeki", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196" } ], "reference": [ { "type": "PubMed", "id": "15358134", "url": "https://glygen.org/publication/PubMed/15358134" } ] }, { "title": "Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity.", "journal": "The Biochemical journal", "date": "2005", "authors": "Muller S, Schottler M, Schon S, Prante C, Brinkmann T, Kuhn J, Gotting C, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "15461586", "url": "https://glygen.org/publication/PubMed/15461586" } ] }, { "title": "Lysosomal metabolism of glycoproteins.", "journal": "Glycobiology", "date": "2005", "authors": "Winchester B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "15647514", "url": "https://glygen.org/publication/PubMed/15647514" } ] }, { "title": "Expression and 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Rossi A, Perez-Aytes A, Cortina H, Bonafe L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3595172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595172" } ], "reference": [ { "type": "PubMed", "id": "18513679", "url": "https://glygen.org/publication/PubMed/18513679" } ] }, { "title": "Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.", "journal": "American journal of medical genetics. Part A", "date": "2008", "authors": "van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3595172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595172" } ], "reference": [ { "type": "PubMed", "id": "18698629", "url": "https://glygen.org/publication/PubMed/18698629" } ] }, { "title": "Two dermatan sulfate epimerases form iduronic acid domains in dermatan sulfate.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Pacheco B, Malmstrom A, Maccarana M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "19188366", "url": "https://glygen.org/publication/PubMed/19188366" } ] }, { "title": "Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.", "journal": "American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics", "date": "2010", "authors": "So HC, Fong PY, Chen RY, Hui TC, Ng MY, Cherny SS, Mak WW, Cheung EF, Chan RC, Chen EY, Li T, Sham PC", "evidence": [ { "database": "RefSeq", "id": "NP_001193873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193873" } ], "reference": [ { "type": "PubMed", "id": "19367581", "url": "https://glygen.org/publication/PubMed/19367581" } ] }, { "title": "Human alpha-L-iduronidase: cDNA isolation and expression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "1946389", "url": "https://glygen.org/publication/PubMed/1946389" } ] }, { "title": "Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate.", "journal": "Glycobiology", "date": "2009", "authors": "Pacheco B, Maccarana M, Malmstrom A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022923", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022923" } ], "reference": [ { "type": "PubMed", "id": "19661164", "url": "https://glygen.org/publication/PubMed/19661164" } ] }, { "title": "Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.", "journal": "American journal of human genetics", "date": "2009", "authors": "Dundar M, Muller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3595174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595174" } ], "reference": [ { "type": "PubMed", "id": "20004762", "url": "https://glygen.org/publication/PubMed/20004762" } ] }, { "title": "Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.", "journal": "Human mutation", "date": "2010", "authors": "Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3595174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595174" } ], "reference": [ { "type": "PubMed", "id": "20533528", "url": "https://glygen.org/publication/PubMed/20533528" } ] }, { "title": "Molecular characterization of beta1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).", "journal": "FEBS letters", "date": "2010", "authors": "Bui C, Talhaoui I, Chabel M, Mulliert G, Coughtrie MW, Ouzzine M, Fournel-Gigleux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783" } ], "reference": [ { "type": "PubMed", "id": "20691685", "url": "https://glygen.org/publication/PubMed/20691685" } ] }, { "title": "Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.", "journal": "American journal of medical genetics. Part A", "date": "2010", "authors": "Unger S, Lausch E, Rossi A, Megarbane A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafe L, Zabel B, Superti-Furga A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3595172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3595172" } ], "reference": [ { "type": "PubMed", "id": "20830804", "url": "https://glygen.org/publication/PubMed/20830804" } ] }, { "title": "Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.", "journal": "American journal of human genetics", "date": "2010", "authors": "Tian J, Ling L, Shboul M, Lee H, O'Connor B, Merriman B, Nelson SF, Cool S, Ababneh OH, Al-Hadidy A, Masri A, Hamamy H, Reversade B", "evidence": [ { "database": "Reactome", 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analysis of patient DNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2024101", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2024101" } ], "reference": [ { "type": "PubMed", "id": "2122463", "url": "https://glygen.org/publication/PubMed/2122463" } ] }, { "title": "Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.", "journal": "American journal of human genetics", "date": "2011", "authors": "Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundlos S, Hoffmann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560801", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030660", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "chondroitin sulfate proteoglycan 5 O-glycosylated 1 (human)", "definition": "A chondroitin sulfate proteoglycan 5 (human) that has been O-glycosylated at the residue equivalent to Ser-165 of the amino acid sequence represented by UniProtKB:O95196-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O95196-1, Ser-165, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:23234360]", "evidence": [ { "id": "PR:000050896", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050896" } ] } ], "site_annotation": [ { "start_pos": 355, "end_pos": 357, "annotation": "n_glycosylation_sequon" }, { "start_pos": 367, "end_pos": 369, "annotation": "n_glycosylation_sequon" }, { "start_pos": 473, "end_pos": 475, "annotation": "n_glycosylation_sequon" }, { "start_pos": 564, "end_pos": 566, "annotation": "n_glycosylation_sequon" }, { "start_pos": 57, "end_pos": 59, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O-glycosylated; contains chondroitin sulfate glycans (PubMed:25326458). Part-time proteoglycan, expressed in part as a proteoglycan exhibiting chondroitin sulfate glycans and in part as a non-proteoglycan form (By similarity). The relative amount of both forms depends on tissues and tissue maturation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95196", "url": "https://www.uniprot.org/uniprot/O95196" }, { "database": "PubMed", "id": "25326458", "url": "https://glygen.org/publication/PubMed/25326458" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 57 ], "o_linked_sites": [ 38, 117, 161, 162, 165, 321, 328 ], "snv_sites": [ 38, 57, 96, 117, 162, 239, 261, 385, 494, 496 ], "glycation_sites": [], "phosphorylation_sites": [ 467, 475, 483, 543 ], "sequon_annotation_sites": [ { "start_pos": 355, "end_pos": 357 }, { "start_pos": 367, "end_pos": 369 }, { "start_pos": 473, "end_pos": 475 }, { "start_pos": 564, "end_pos": 566 }, { "start_pos": 57, "end_pos": 59 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 7 } ], "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": 2 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "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": 8 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_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": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 74 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }