{ "uniprot_canonical_ac": "A8MXV6-1", "uniprot_ac": "A8MXV6", "uniprot_id": "CD15L_HUMAN", "mass": { "chemical_mass": 30100.0, "monoisotopic_mass": 30100.0 }, "refseq": { "ac": "NP_001177719", "name": "CMT1A duplicated region transcript 15 protein-like protein", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177719" }, "gene_names": [ { "name": "CDRT15L2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A8MXV6", "id": "A8MXV6" }, { "name": "CDRT15L2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177719", "id": "NP_001177719" } ], "protein_names": [ { "name": "CMT1A duplicated region transcript 15 protein-like protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A8MXV6" }, { "name": "CMT1A duplicated region transcript 15 protein-like protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177719", "id": "NP_001177719" } ], "function": [], "disease": [], "snv": [ { "evidence": [ { "id": "rs534598169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534598169" }, { "id": "rs534598169", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534598169" }, { "id": "rs534598169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534598169" }, { "id": "rs534598169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs534598169#frequency_tab" }, { "id": "rs534598169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534598169" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 154, "end_pos": 154, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "17", "chr_pos": "20580343", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000799", "site_lbl": "A154", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1597532567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1597532567" }, { "id": "rs1597532567", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1597532567" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "17", "chr_pos": "20580379", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T166", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "32.83", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.93", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "32.28", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "40.61", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "25.72", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "32.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "36.11", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "35.87", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819" } ] } ], "expression_disease": [], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A8MXV6", "url": "https://www.uniprot.org/uniprot/A8MXV6" } ], "common_name": "Human" } ], "gene": [ { "name": "CDRT15L2", "url": "https://www.uniprot.org/uniprot/A8MXV6", "locus": { "chromosome": "17", "start_pos": 20580911, "end_pos": 20579724, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000214819", "url": "https://www.ensembl.org/id/ENSG00000214819" } ] } } ], "crossref": [ { "id": "ENSG00000214819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214819", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CDRT15L2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDRT15L2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "256223", "url": "https://www.ncbi.nlm.nih.gov/gene/256223", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "34075", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=34075", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A8MXV6", "url": "https://www.ebi.ac.uk/intact/interactors/id:A8MXV6*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "hsa:256223", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:256223", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_A8MXV6", "url": "https://www.nextprot.org/entry/NX_A8MXV6", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "A8MXV6", "url": "https://oglcnac.org/atlas/detail/A8MXV6", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "A8MXV6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MXV6", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "PYTEIRA", "url": "https://omabrowser.org/oma/group/PYTEIRA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4706567at2759", "url": "http://www.orthodb.org/?query=4706567at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR16471", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16471", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR16471:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16471:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "A8MXV6", "url": "https://pharos.nih.gov/targets/A8MXV6", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A8MXV6", "url": "http://purl.obolibrary.org/obo/PR_A8MXV6", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001177719", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177719", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A590UJC2", "url": "https://www.uniprot.org/uniprot/A0A590UJC2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A590UJC2-1", "url": "https://www.uniprot.org/uniprot/A0A590UJC2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MXV6", "url": "https://www.uniprot.org/uniprot/A8MXV6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MXV6-1", "url": "https://www.uniprot.org/uniprot/A8MXV6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFSCCFPTSRGCCFRNGGSESLFRQCRRRLIPHPRRLWPFVRRRTQVPQDSPGQALAGQATPEIPSGLPLHIVLVQEEIREPMEAQTHAPGPYADIAALAAPAVEPKPAWEEPPPERALEVEGAPAKDQPSQELPEIMAPTVATGLNAGAENVAGERSGREGVTSTAPASRSHAAPSPGHGGKHGGGDQGIQTGLLYLAGERLLSFAGTTALLLQGLFIVLILVGYISVKVMLKSIKTRLGRRVPAAPPALRRNLLLQAWKCVCNWASRLFAPNVLPRTGS", "length": 281, "header": "sp|A8MXV6-1|CD15L_HUMAN Isoform 1 of CMT1A duplicated region transcript 15 protein-like protein OS=Homo sapiens OX=9606 GN=CDRT15L2 PE=2 SV=1 CANONICAL=A8MXV6-1" }, "isoforms": [ { "isoform_ac": "A0A590UJC2-1", "url": "", "sequence": { "sequence": "MFSCCFPTSRGCCFRNGGSESLFRQCRRRLIPHPRRLWPFVRRRTQVPQDSPGQALAGQATPEIPSGLPLHIVLVQEEIREPMEAQTHAPGPYADIAALAAPAVEPKPAWEEPPPERALEVEGAPAKDQPSQELPEIMVMLKSIKTRLGRRVPAAPPALRRNLLLQAWKCVCNWASRLFAPNVLPRTGS", "length": 189, "header": "tr|A0A590UJC2-1|A0A590UJC2_HUMAN Computationally mapped isoform of CMT1A duplicated region transcript 15 like 2 OS=Homo sapiens OX=9606 GN=CDRT15L2 PE=4 SV=1 CANONICAL=A8MXV6-1" }, "locus": { "chromosome": "17", "start_pos": 20580726, "end_pos": 20579744, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000661883.1", "url": "https://www.ensembl.org/id/ENST00000661883.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499342.1", "url": "https://www.ensembl.org/id/ENSP00000499342.1" } ] } }, { "isoform_ac": "A8MXV6-1", "url": "", "sequence": { "sequence": "MFSCCFPTSRGCCFRNGGSESLFRQCRRRLIPHPRRLWPFVRRRTQVPQDSPGQALAGQATPEIPSGLPLHIVLVQEEIREPMEAQTHAPGPYADIAALAAPAVEPKPAWEEPPPERALEVEGAPAKDQPSQELPEIMAPTVATGLNAGAENVAGERSGREGVTSTAPASRSHAAPSPGHGGKHGGGDQGIQTGLLYLAGERLLSFAGTTALLLQGLFIVLILVGYISVKVMLKSIKTRLGRRVPAAPPALRRNLLLQAWKCVCNWASRLFAPNVLPRTGS", "length": 281, "header": "sp|A8MXV6-1|CD15L_HUMAN Isoform 1 of CMT1A duplicated region transcript 15 protein-like protein OS=Homo sapiens OX=9606 GN=CDRT15L2 PE=2 SV=1 CANONICAL=A8MXV6-1" }, "locus": { "chromosome": "17", "start_pos": 20580726, "end_pos": 20579744, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399044.1", "url": "https://www.ensembl.org/id/ENST00000399044.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000382000.1", "url": "https://www.ensembl.org/id/ENSP00000382000.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 164, "start_aa": "Thr", "end_pos": 164, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr164", "evidence": [ { "id": "A8MXV6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MXV6" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "A8MXV6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A8MXV6" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 166, "start_aa": "Thr", "end_pos": 166, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr166", "evidence": [ { "id": "A8MXV6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MXV6" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Global profiling of O-GlcNAcylated and/or phosphorylated proteins in hepatoblastoma.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Song H, Ma J, Bian Z, Chen S, Zhu J, Wang J, Huang N, Yin M, Sun F, Xu M, Pan Q", "evidence": [ { "database": "O-GlcNAc Database", "id": "A8MXV6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MXV6" }, { "database": "O-GlcNAc Atlas", "id": "A8MXV6", "url": "https://oglcnac.org/atlas/detail/A8MXV6" } ], "reference": [ { "type": "PubMed", "id": "31637018", "url": "https://glygen.org/publication/PubMed/31637018" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "A8MXV6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MXV6" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "pathway": [ { "id": "hsa:256223", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:256223", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A8MXV6", "url": "https://www.uniprot.org/uniprot/A8MXV6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 164, 166 ], "snv_sites": [ 154, 166 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "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": 1 }, { "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", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "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": 1 }, { "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_predicted", "table_stats": [ { "field": "total", "count": 0 }, { 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