{ "uniprot_canonical_ac": "A0A2R8YFM6-1", "uniprot_ac": "A0A2R8YFM6", "uniprot_id": "OOSP3_HUMAN", "mass": { "chemical_mass": 21194.0, "monoisotopic_mass": 21194.0 }, "refseq": {}, "gene_names": [ { "name": "OOSP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6", "id": "A0A2R8YFM6" } ], "protein_names": [ { "name": "Oocyte-secreted protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A2R8YFM6" } ], "function": [], "disease": [], "snv": [ { "evidence": [ { "id": "rs1334390318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334390318" }, { "id": "rs1334390318", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1334390318#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 130, "end_pos": 130, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "11", "chr_pos": "59895540", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1405262602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405262602" }, { "id": "rs1405262602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1405262602" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 165, "end_pos": 165, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "11", "chr_pos": "59895646", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1322364760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322364760" }, { "id": "rs1322364760", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1322364760#frequency_tab" }, { "id": "rs1322364760", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322364760" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 167, "end_pos": 167, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSL).", "chr_id": "11", "chr_pos": "59895651", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S167", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A0A2R8YFM6", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6" } ], "common_name": "Human" } ], "gene": [ { "name": "OOSP3", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6", "locus": { "chromosome": "11", "start_pos": 59896483, "end_pos": 59878782, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000285231", "url": "https://www.ensembl.org/id/ENSG00000285231" } ] } } ], "crossref": [ { "id": "ENSG00000285231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000285231", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "OOSP3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=OOSP3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "53903", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=53903", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR033222", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033222", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "NX_A0A2R8YFM6", "url": "https://www.nextprot.org/entry/NX_A0A2R8YFM6", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "CIVYGSS", "url": "https://omabrowser.org/oma/group/CIVYGSS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4642689at2759", "url": "http://www.orthodb.org/?query=4642689at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14380", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14380", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14380:SF10", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14380:SF10", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PR_A0A2R8YFM6", "url": "http://purl.obolibrary.org/obo/PR_A0A2R8YFM6", "database": "PRO", "categories": [ "Protein" ] }, { "id": "A0A2R8YFM6", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YFM6-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKDFVRLQSSFLLCTILTLSEQESVSVGCTSSMFWVVAEPTLLGQDHILHSDEASLGTGCPVTNVTAKGYEFNYPATQCGIQKEVFSYVTVFYSALHCNIMHKGVTGKIPLMCIVYGSSLDTTSSTIHNNLTEFQNDPPATNSYSPWNLTNASLFGLTRIPYFQNSSVEASHQSLLLNMSHPLVHESANVAIF", "length": 193, "header": "sp|A0A2R8YFM6-1|OOSP3_HUMAN Isoform 1 of Oocyte-secreted protein 3 OS=Homo sapiens OX=9606 GN=OOSP3 PE=3 SV=1 CANONICAL=A0A2R8YFM6-1" }, "isoforms": [ { "isoform_ac": "A0A2R8YFM6-1", "url": "", "sequence": { "sequence": "MKDFVRLQSSFLLCTILTLSEQESVSVGCTSSMFWVVAEPTLLGQDHILHSDEASLGTGCPVTNVTAKGYEFNYPATQCGIQKEVFSYVTVFYSALHCNIMHKGVTGKIPLMCIVYGSSLDTTSSTIHNNLTEFQNDPPATNSYSPWNLTNASLFGLTRIPYFQNSSVEASHQSLLLNMSHPLVHESANVAIF", "length": 193, "header": "sp|A0A2R8YFM6-1|OOSP3_HUMAN Isoform 1 of Oocyte-secreted protein 3 OS=Homo sapiens OX=9606 GN=OOSP3 PE=3 SV=1 CANONICAL=A0A2R8YFM6-1" }, "locus": { "chromosome": "11", "start_pos": 59896210, "end_pos": 59878809, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646438.2", "url": "https://www.ensembl.org/id/ENST00000646438.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000495263.1", "url": "https://www.ensembl.org/id/ENSP00000495263.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "A0A2R8YFM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "evidence": [ { "id": "A0A2R8YFM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 151, "start_aa": "Asn", "end_pos": 151, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn151", "evidence": [ { "id": "A0A2R8YFM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "A0A2R8YFM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "A0A2R8YFM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "evidence": [ { "id": "A0A2R8YFM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8YFM6", "url": "https://www.uniprot.org/uniprot/A0A2R8YFM6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 130, "end_pos": 132, "annotation": "n_glycosylation_sequon" }, { "start_pos": 148, "end_pos": 150, "annotation": "n_glycosylation_sequon" }, { "start_pos": 151, "end_pos": 153, "annotation": "n_glycosylation_sequon" }, { "start_pos": 165, "end_pos": 167, "annotation": "n_glycosylation_sequon" }, { "start_pos": 178, "end_pos": 180, "annotation": "n_glycosylation_sequon" }, { "start_pos": 64, "end_pos": 66, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [], "sequence_features": { "n_linked_sites": [ 64, 130, 148, 151, 165, 178 ], "o_linked_sites": [], "snv_sites": [ 130, 165, 167 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 130, "end_pos": 132 }, { "start_pos": 148, "end_pos": 150 }, { "start_pos": 151, "end_pos": 153 }, { "start_pos": 165, "end_pos": 167 }, { "start_pos": 178, "end_pos": 180 }, { "start_pos": 64, "end_pos": 66 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }