{ "uniprot_canonical_ac": "O75391-1", "uniprot_ac": "O75391", "uniprot_id": "SPAG7_HUMAN", "mass": { "chemical_mass": 26034.0, "monoisotopic_mass": 26034.0 }, "refseq": { "ac": "NP_004881", "name": "sperm-associated antigen 7", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004881" }, "gene_names": [ { "name": "SPAG7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75391", "id": "O75391" }, { "name": "ACRP; FSA-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004881", "id": "NP_004881" }, { "name": "SPAG7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004881", "id": "NP_004881" } ], "protein_names": [ { "name": "Sperm-associated antigen 7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75391" }, { "name": "sperm-associated antigen 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004881", "id": "NP_004881" } ], "function": [ { "annotation": "SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_004881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004881" }, { "database": "PubMed", "id": "24452265", "url": "https://glygen.org/publication/PubMed/24452265" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs750918890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750918890" }, { "id": "rs750918890", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750918890" }, { "id": "rs750918890", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750918890" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 198, "end_pos": 198, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKR->NKT).", "chr_id": "17", "chr_pos": "4959625", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772412987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772412987" }, { "id": "rs772412987", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772412987" }, { "id": "rs772412987", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772412987#frequency_tab" }, { "id": "rs772412987", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772412987" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 227, "end_pos": 227, "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": "4959539", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S227", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091640" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75391", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75391" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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": "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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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"sequence": "MEKPPSLGDQETRRKAREQAARLKKLQEQEKQQKVEFRKRMEKEVSDFIQDSGQIKKKFQPMNKIERSILHDVVEVAGLTSFSFGEDDDCRYVMIFKKEFAPSDEELDSYRRGEEWDPQKAEEKRKLKELAQRQEEEAAQQGPVVVSPASDYKDKYSHLIGKGAAKDAAHMLQANKTYGCGEATVRLGVAGRGA", "length": 194, "header": "tr|I3L4C3-1|I3L4C3_HUMAN Computationally mapped isoform of Sperm associated antigen 7 OS=Homo sapiens OX=9606 GN=SPAG7 PE=1 SV=1 CANONICAL=O75391-1" }, "locus": { "chromosome": "17", "start_pos": 4967771, "end_pos": 4959719, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000575142.5", "url": "https://www.ensembl.org/id/ENST00000575142.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000461145.1", "url": "https://www.ensembl.org/id/ENSP00000461145.1" } ] } }, { "isoform_ac": "O75391-1", "url": "", "sequence": { "sequence": "MADLLGSILSSMEKPPSLGDQETRRKAREQAARLKKLQEQEKQQKVEFRKRMEKEVSDFIQDSGQIKKKFQPMNKIERSILHDVVEVAGLTSFSFGEDDDCRYVMIFKKEFAPSDEELDSYRRGEEWDPQKAEEKRKLKELAQRQEEEAAQQGPVVVSPASDYKDKYSHLIGKGAAKDAAHMLQANKTYGCVPVANKRDTRSIEEAMNEIRAKKRLRQSGEELPPTS", "length": 227, "header": "sp|O75391-1|SPAG7_HUMAN Isoform 1 of Sperm-associated antigen 7 OS=Homo sapiens OX=9606 GN=SPAG7 PE=1 SV=2 CANONICAL=O75391-1" }, "locus": { "chromosome": "17", "start_pos": 4967804, "end_pos": 4959537, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000206020.8", "url": "https://www.ensembl.org/id/ENST00000206020.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000206020.3", "url": "https://www.ensembl.org/id/ENSP00000206020.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 227, "start_aa": "Ser", "end_pos": 227, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser227", "evidence": [ { "id": "O75391", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75391" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "O75391", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75391" } ] } ], "phosphorylation": [ { "start_pos": 103, "end_pos": 103, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Tyr103" }, { "start_pos": 114, "end_pos": 114, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O75391", "url": "http://phospho.elm.eu.org/byAccession/O75391.html" } ], "site_lbl": "Ser114" }, { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" }, { "database": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ], "site_lbl": "Tyr121" }, { "start_pos": 158, "end_pos": 158, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "phospho.ELM", "id": "O75391", "url": "http://phospho.elm.eu.org/byAccession/O75391.html" } ], "site_lbl": "Ser158" }, { "start_pos": 161, "end_pos": 161, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O75391", "url": "http://phospho.elm.eu.org/byAccession/O75391.html" } ], "site_lbl": "Ser161" }, { "start_pos": 202, "end_pos": 202, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" } ], "site_lbl": "Ser202" }, { "start_pos": 57, "end_pos": 57, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser57" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Tang LY, Deng N, Wang LS, Dai J, Wang ZL, Jiang XS, Li SJ, Li L, Sheng QH, Wu DQ, Li L, Zeng R", "evidence": [ { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" } ], "reference": [ { "type": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" }, { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" }, { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" }, { "database": "iPTMnet", "id": "O75391", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75391" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75391", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75391" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome.", "journal": "Genes and immunity", "date": "2014", "authors": "Bens S, Zichner T, Stutz AM, Caliebe A, Wagener R, Hoff K, Korbel JO, von Bismarck P, Siebert R", "evidence": [ { "database": "RefSeq", "id": "NP_004881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004881" } ], "reference": [ { "type": "PubMed", "id": "24452265", "url": "https://glygen.org/publication/PubMed/24452265" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75391", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75391" }, { "database": "O-GlcNAc Atlas", "id": "O75391", "url": "https://oglcnac.org/atlas/detail/O75391" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75391", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75391" }, { "database": "O-GlcNAc Atlas", "id": "O75391", "url": "https://oglcnac.org/atlas/detail/O75391" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75391", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75391" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75391", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75391" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Cloning and characterization of a fox sperm protein FSA-1.", "journal": "Reprod. Fertil. Dev.", "date": "1994", "authors": "Beaton S, Cleary A, ten Have J, Bradley M P", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" } ], "reference": [ { "type": "PubMed", "id": "7624517", "url": "https://glygen.org/publication/PubMed/7624517" } ] }, { "title": "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Mao M, Fu G, Wu J S, Zhang Q H, Zhou J, Kan L X, Huang Q H, He K L, Gu B W, Han Z G, Shen Y, Gu J, Yu Y P, Xu S H, Wang Y X, Chen S J, Chen Z", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" } ], "reference": [ { "type": "PubMed", "id": "9653160", "url": "https://glygen.org/publication/PubMed/9653160" } ] } ], "pathway": [ { "id": "hsa:9552", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9552", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZCG4-1", "protein_name": "Sperm-associated antigen 7", "gene_name": "Spag7", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MADLLGSILSSMEKPPSLGDQESRRKAREQAARLKKLQEQDKQQKVEFRKRMEREVSDFIQDSGQIKKRFQPMNKIERSILHDVVEVAGLTSFSFGEDDDCRYVMIFKKEFAPSDEELDSYRHGEEWDPQKAEEKRKLKELAQKQEEEAAQQGPAVVSPTSDYKDKYSHLIGKGAAKDAAHMLQANKTYGCVPVANKRDTRSIEEAMNEIRAKKRLRQSGEELPTTS", "length": 227 }, "evidence": [ { "id": "45924775", "url": "http://www.informatics.jax.org/homology/45924775", "database": "MGI" }, { "id": "O75391", "url": "https://omabrowser.org/oma/group/O75391/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q7TNE3-1", "protein_name": "Sperm-associated antigen 7", "gene_name": "Spag7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MADLLGSILSSMEKPPSLGDQESRRKAREQAARLKKLQEQDKQQKVEFRKRMEKEVSDFIQDSGQVKKKFQPMNKIERSILHDVVEVAGLTSFSFGEDDDCRYVMIFKKEFAPSDEELDSYRHGEEWDPQKAEEKRKLKELAQKQEEEAAQQGPAVVSPASDYKDKYSHLIGKGAAKDAAHMLQANKTYGCVPVANKRDTRSIEEAMNEIRAKKRLRQSGEELPTTS", "length": 227 }, "evidence": [ { "id": "45924775", "url": "http://www.informatics.jax.org/homology/45924775", "database": "MGI" }, { "id": "O75391", "url": "https://omabrowser.org/oma/group/O75391/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VIL2-1", "protein_name": "LD19544p", "gene_name": "Dmel\\CG2608", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MDLLDSILNAMDAPPANNEQQKTLIKKQREMLERMQNKQKEELLRFRKYVDERMGRFAKDDRRCIEFQPLDKVHRSVIHEVAENGGFIAMSFGREDVDRHSVVYKKEHAPGEDEVTARRNGDGWNEEIAKEYAERRRERLAQEQSDKEASTSEAASSGSSTSTSADQDSGEVKPTTNYKAKYAHLIGESAALQAARKTETNQSYGFVPSKNKKDVRSIEQTLADIQAKKRLRLAQQQELEQEQQAQEATTSTEDP", "length": 255 }, "evidence": [ { "id": "O75391", "url": "https://omabrowser.org/oma/group/O75391/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75391", "url": "https://www.uniprot.org/uniprot/O75391" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 186, "end_pos": 188, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "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": [], "o_linked_sites": [ 227 ], "snv_sites": [ 198, 227 ], "glycation_sites": [], "phosphorylation_sites": [ 57, 103, 114, 121, 158, 161, 202 ], "sequon_annotation_sites": [ { "start_pos": 186, "end_pos": 188 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", 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