{ "uniprot_canonical_ac": "O15061-1", "uniprot_ac": "O15061", "uniprot_id": "SYNEM_HUMAN", "mass": { "chemical_mass": 172868.0, "monoisotopic_mass": 172868.0 }, "refseq": { "ac": "NP_056101", "name": "synemin isoform B", "summary": "The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" }, "gene_names": [ { "name": "SYNM", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15061", "id": "O15061" }, { "name": "DMN; SYN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101", "id": "NP_056101" }, { "name": "DMN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15061", "id": "O15061" }, { "name": "KIAA0353", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15061", "id": "O15061" }, { "name": "SYNM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101", "id": "NP_056101" }, { "name": "SYN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15061", "id": "O15061" }, { "name": "hCG_28262", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15061", "id": "O15061" } ], "protein_names": [ { "name": "Synemin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15061" }, { "name": "Desmuslin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15061" }, { "name": "synemin beta; synemin alpha; desmuslin; synemin, intermediate filament protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101", "id": "NP_056101" }, { "name": "synemin isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101", "id": "NP_056101" } ], "function": [ { "annotation": "A novel heterozygous missense mutation p.(Trp538Arg) of SYNM was identified and cosegregated with the affected members in a Chinese family", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" }, { "database": "PubMed", "id": "30276801", "url": "https://glygen.org/publication/PubMed/30276801" } ] }, { "annotation": "A risk model of gene signatures for predicting platinum response and survival in ovarian cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" }, { "database": "PubMed", "id": "35361267", "url": "https://glygen.org/publication/PubMed/35361267" } ] }, { "annotation": "C-Abl Tyrosine Kinase Is Regulated Downstream of the Cytoskeletal Protein Synemin in Head and Neck Squamous Cell Carcinoma Radioresistance and DNA Repair. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" }, { "database": "PubMed", "id": "33019757", "url": "https://glygen.org/publication/PubMed/33019757" } ] }, { "annotation": "Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" }, { "database": "PubMed", "id": "12669240", "url": "https://glygen.org/publication/PubMed/12669240" } ] }, { "annotation": "Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" }, { "database": "PubMed", "id": "11454237", "url": "https://glygen.org/publication/PubMed/11454237" } ] }, { "annotation": "Synemin is a target of myocardin family coactivators.", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" }, { "database": "PubMed", "id": "31461342", "url": "https://glygen.org/publication/PubMed/31461342" } ] }, { "annotation": "Synemin promotes pulmonary artery smooth muscle cell phenotypic switch in shunt-induced pulmonary arterial hypertension.", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" }, { "database": "PubMed", "id": "35769011", "url": "https://glygen.org/publication/PubMed/35769011" } ] }, { "annotation": "The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" } ] }, { "annotation": "Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteromeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteromeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells.", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061#function" }, { "database": "PubMed", "id": "11353857", "url": "https://glygen.org/publication/PubMed/11353857" }, { "database": "PubMed", "id": "16777071", "url": "https://glygen.org/publication/PubMed/16777071" }, { "database": "PubMed", "id": "18028034", "url": "https://glygen.org/publication/PubMed/18028034" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1555485962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555485962" }, { "id": "rs1555485962", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555485962" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1119, "end_pos": 1119, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "15", "chr_pos": "99131715", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596137952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596137952" }, { "id": "rs1596137952", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596137952" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1258, "end_pos": 1258, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TQT->NQT).", "chr_id": "15", "chr_pos": "99132133", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555486092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555486092" }, { "id": "rs1555486092", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555486092" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1310, "end_pos": 1310, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HIS->NIS).", "chr_id": "15", "chr_pos": "99132288", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782772728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782772728" }, { "id": "rs782772728", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782772728" }, { "id": "rs782772728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782772728" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 355, "end_pos": 355, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NER->NES).", "chr_id": "15", "chr_pos": "99129425", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555485389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555485389" }, { "id": "rs1555485389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555485389" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 370, "end_pos": 370, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HSS->NSS).", "chr_id": "15", "chr_pos": "99129468", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H370", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139926634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139926634" }, { "id": "rs139926634", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139926634" }, { "id": "rs139926634", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139926634" }, { "id": "rs139926634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139926634#frequency_tab" }, { "id": "rs139926634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139926634" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 421, "end_pos": 421, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "15", "chr_pos": "99129622", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "S421", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555485434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555485434" }, { "id": "rs1555485434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555485434" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 426, "end_pos": 426, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVR->NVS).", "chr_id": "15", "chr_pos": "99129638", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1327547136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327547136" }, { "id": "rs1327547136", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1327547136#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 464, "end_pos": 464, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "15", "chr_pos": "99129750", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D464", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1172742738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172742738" }, { "id": "rs1172742738", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1172742738#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 624, "end_pos": 624, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "15", "chr_pos": "99130230", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D624", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1327347318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327347318" }, { "id": "rs1327347318", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1327347318#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 697, "end_pos": 697, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "15", "chr_pos": "99130449", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D697", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs557354487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557354487" }, { "id": "rs557354487", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557354487" }, { "id": "rs557354487", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557354487" }, { "id": "rs557354487", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557354487" }, { "id": "rs557354487", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs557354487#frequency_tab" }, { "id": "rs557354487", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557354487" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 733, "end_pos": 733, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "15", "chr_pos": "99130557", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "G733", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374839316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374839316" }, { "id": "rs374839316", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374839316" }, { "id": "rs374839316", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374839316#frequency_tab" }, { "id": "rs374839316", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374839316" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 775, "end_pos": 775, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "15", "chr_pos": "99130683", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D775", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs546354423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546354423" }, { "id": "rs546354423", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs546354423" }, { "id": "rs546354423", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546354423" }, { "id": "rs546354423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs546354423#frequency_tab" }, { "id": "rs546354423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs546354423" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 794, "end_pos": 794, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "15", "chr_pos": "99130740", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "D794", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1449049632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449049632" }, { "id": "rs1449049632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1449049632#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 981, "end_pos": 981, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "15", "chr_pos": "99131302", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S981", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "74.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "97.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "88.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000182253", "url": 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"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": 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"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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15061" } ], "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://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "common_name": "Human" } ], "gene": [ { "name": "SYNM", "url": "https://www.uniprot.org/uniprot/O15061", "locus": { "chromosome": "15", "start_pos": 99135593, "end_pos": 99098217, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000182253", "url": "https://www.ensembl.org/id/ENSG00000182253" } ] } } ], "crossref": [ { "id": "ENSG00000182253", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182253", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "SYNM", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYNM", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "23336", "url": "https://www.ncbi.nlm.nih.gov/gene/23336", "database": "GeneID", "categories": [ 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"categories": [ "Other" ] }, { "id": "NX_O15061", "url": "https://www.nextprot.org/entry/NX_O15061", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15061", "url": "https://oglcnac.org/atlas/detail/O15061", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15061", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15061", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WTEDIEN", "url": "https://omabrowser.org/oma/group/WTEDIEN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5353519at2759", "url": "http://www.orthodb.org/?query=5353519at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR47136", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47136", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47136:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47136:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6EWO", "url": "https://www.rcsb.org/structure/6EWO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00038", "url": "http://pfam.xfam.org/family/PF00038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15061", "url": "https://pharos.nih.gov/targets/O15061", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15061", "url": "http://purl.obolibrary.org/obo/PR_O15061", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A075B7B1", "url": "https://www.uniprot.org/uniprot/A0A075B7B1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A075B7B1-1", "url": "https://www.uniprot.org/uniprot/A0A075B7B1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JIE4", "url": "https://www.uniprot.org/uniprot/C9JIE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JIE4-1", "url": "https://www.uniprot.org/uniprot/C9JIE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YL34", "url": "https://www.uniprot.org/uniprot/H0YL34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YL34-1", "url": "https://www.uniprot.org/uniprot/H0YL34-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15061-1", "url": "https://www.uniprot.org/uniprot/O15061-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15061-2", "url": "https://www.uniprot.org/uniprot/O15061-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15061-3", "url": "https://www.uniprot.org/uniprot/O15061-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLSWRLQTGPEKAELQELNARLYDYVCRVRELERENLLLEEELRGRRGREGLWAEGQARCAEEARSLRQQLDELSWATALAEGERDALRRELRELQRLDAEERAARGRLDAELGAQQRELQEALGARAALEALLGRLQAERRGLDAAHERDVRELRARAASLTMHFRARATGPAAPPPRLREVHDSYALLVAESWRETVQLYEDEVRELEEALRRGQESRLQAEEETRLCAQEAEALRREALGLEQLRARLEDALLRMREEYGIQAEERQRVIDCLEDEKATLTLAMADWLRDYQDLLQVKTGLSLEVATYRALLEGESNPEIVIWAEHVENMPSEFRNKSYHYTDSLLQRENERNLFSRQKAPLASFNHSSALYSNLSGHRGSQTGTSIGGDARRGFLGSGYSSSATTQQENSYGKAVSSQTNVRTFSPTYGLLRNTEAQVKTFPDRPKAGDTREVPVYIGEDSTIARESYRDRRDKVAAGASESTRSNERTVILGKKTEVKATREQERNRPETIRTKPEEKMFDSKEKASEERNLRWEELTKLDKEARQRESQQMKEKAKEKDSPKEKSVREREVPISLEVSQDRRAEVSPKGLQTPVKDAGGGTGREAEARELRFRLGTSDATGSLQGDSMTETVAENIVTSILKQFTQSPETEASADSFPDTKVTYVDRKELPGERKTKTEIVVESKLTEDVDVSDEAGLDYLLSKDIKEVGLKGKSAEQMIGDIINLGLKGREGRAKVVNVEIVEEPVSYVSGEKPEEFSVPFKVEEVEDVSPGPWGLVKEEEGYGESDVTFSVNQHRRTKQPQENTTHVEEVTEAGDSEGEQSYFVSTPDEHPGGHDRDDGSVYGQIHIEEESTIRYSWQDEIVQGTRRRTQKDGAVGEKVVKPLDVPAPSLEGDLGSTHWKEQARSGEFHAEPTVIEKEIKIPHEFHTSMKGISSKEPRQQLVEVIGQLEETLPERMREELSALTREGQGGPGSVSVDVKKVQGAGGSSVTLVAEVNVSQTVDADRLDLEELSKDEASEMEKAVESVVRESLSRQRSPAPGSPDEEGGAEAPAAGIRFRRWATRELYIPSGESEVAGGASHSSGQRTPQGPVSATVEVSSPTGFAQSQVLEDVSQAARHIKLGPSEVWRTERMSYEGPTAEVVEVSAGGDLSQAASPTGASRSVRHVTLGPGQSPLSREVIFLGPAPACPEAWGSPEPGPAESSADMDGSGRHSTFGCRQFHAEKEIIFQGPISAAGKVGDYFATEESVGTQTSVRQLQLGPKEGFSGQIQFTAPLSDKVELGVIGDSVHMEGLPGSSTSIRHISIGPQRHQTTQQIVYHGLVPQLGESGDSESTVHGEGSADVHQATHSHTSGRQTVMTEKSTFQSVVSESPQEDSAEDTSGAEMTSGVSRSFRHIRLGPTETETSEHIAIRGPVSRTFVLAGSADSPELGKLADSSRTLRHIAPGPKETSFTFQMDVSNVEAIRSRTQEAGALGVSDRGSWRDADSRNDQAVGVSFKASAGEGDQAHREQGKEQAMFDKKVQLQRMVDQRSVISDEKKVALLYLDNEEEENDGHWF", "length": 1565, "header": "sp|O15061-1|SYNEM_HUMAN Isoform 1 of Synemin OS=Homo sapiens OX=9606 GN=SYNM PE=1 SV=3 CANONICAL=O15061-1" }, "isoforms": [ { "isoform_ac": "A0A075B7B1-1", "url": "", "sequence": { "sequence": "MLSWRLQTGPEKAELQELNARLYDYVCRVRELERENLLLEEELRGRRGREGLWAEGQARCAEEARSLRQQLDELSWATALAEGERDALRRELRELQRLDAEERAARGRLDAELGAQQRELQEALGARAALEALLGRLQAERRGLDAAHERDVRELRARAASLTMHFRARATGPAAPPPRLREVHDSYALLVAESWRETVQLYEDEVRELEEALRRGQESRLQAEEETRLCAQEAEALRREALGLEQLRARLEDALLRMREEYGIQAEERQRVIDCLEDEKATLTLAMADWLRDYQDLLQVKTGLSLEVATYRALLEGESNPEIVIWAEHVENMPSEFRNKSYHYTDSLLQRENERNLFSRQKAPLASFNHSSALYSNLSGHRGSQTGTSIGGDARRGFLGSGYSSSATTQQENSYGKAVSSQTNVRTFSPTYGLLRNTEAQVKTFPDRPKAGDTREVPVYIGEDSTIARESYRDRRDKVAAGASESTRSNERTVILGKKTEVKATREQERNRPETIRTKPEEKMFDSKEKASEERNLRWEELTKLDKEARQRESQQMKEKAKEKDSPKEKSVREREVPISLEVSQDRRAEVSPKGLQTPVKDAGGGTGREAEARELRFRLGTSDATGSLQGDSMTETVAENIVTSILKQFTQSPETEASADSFPDTKVTYVDRKELPGERKTKTEIVVESKLTEDVDVSDEAGLDYLLSKDIKEVGLKGKSAEQMIGDIINLGLKGREGRAKVVNVEIVEEPVSYVSGEKPEEFSVPFKVEEVEDVSPGPWGLVKEEEGYGESDVTFSVNQHRRTKQPQENTTHVEEVTEAGDSEGEQSYFVSTPDEHPGGHDRDDGSVYGQIHIEEESTIRYSWQDEIVQGTRRRTQKDGAVGEKVVKPLDVPAPSLEGDLGSTHWKEQARSGEFHAEPTVIEKEIKIPHEFHTSMKGISSKEPRQQLVEVIGQLEETLPERMREELSALTREGQGGPGSVSVDVKKVQGAGGSSVTLVAEVNVSQTVDADRLDLEELSKDEASEMEKAVESVVRESLSRQRSPAPGSPDEEGGAEAPAAGIRFRRWATRELYIPSGESEVAGGASHSSGQRTPQGPVSATVEVSSPTGFAQSQVLEDVSQAARHIKLGPSEVWRTERMSYEGPTAEVVEMDVSNVEAIRSRTQEAGALGVSDRGSWRDADSRNDQAVGVSFKASAGEGDQAHREQGKEQAMFDKKVQLQRMVDQRSVISDEKKVALLYLDNEEEENDGHWF", "length": 1253, "header": "tr|A0A075B7B1-1|A0A075B7B1_HUMAN Computationally mapped isoform of Synemin OS=Homo sapiens OX=9606 GN=SYNM PE=1 SV=1 CANONICAL=O15061-1" }, "locus": { "chromosome": "15", "start_pos": 99133055, "end_pos": 99105200, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594047", "url": "https://www.ensembl.org/id/ENST00000594047" }, { "database": "Ensembl Peptide", "id": "ENSP00000472953", "url": "https://www.ensembl.org/id/ENSP00000472953" } ] } }, { "isoform_ac": "C9JIE4-1", "url": "", "sequence": { "sequence": "MLSWRLQTGPEKAELQELNARLYDYVCRVRELERENLLLEEELRGRRGREGLWAEGQARCAEEARSLRQQLDELSWATALAEGERDALRRELRELQRLDAEERAARGRLDAELGAQQRELQEALGARAALEALLGRLQAERRGLDAAHERDVRELRARAASLTMHFRARATGPAAPPPRLREVHDSYALLVAESWRETVQLYEDEVRELEEALRRGQESRLQAEEETRLCAQEAEALRREALGLEQLRARLEDALLRMREEYGIQAEERQRVIDCLEDEKATLTLAMADWLRDYQDLLQVKTGLSLEVATYRALLEGESNPEIVIWAEHVENMPSDGCE", "length": 339, "header": "tr|C9JIE4-1|SYNEM_HUMAN Computationally mapped isoform of Synemin OS=Homo sapiens OX=9606 GN=SYNM PE=1 SV=2 CANONICAL=O15061-1" }, "locus": { "chromosome": "15", "start_pos": 99132760, "end_pos": 99105200, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000328642", "url": "https://www.ensembl.org/id/ENST00000328642" }, { "database": "Ensembl Peptide", "id": "ENSP00000330469", "url": "https://www.ensembl.org/id/ENSP00000330469" } ] } }, { "isoform_ac": "H0YL34-1", "url": "", "sequence": { "sequence": "MADWLRDYQDLLQVKTGLSLEVATYRALLEGESNPEIVIWAEHVENMPSEFRNKSYHYTDSLLQRENERNLFSRQKAPLASFNHSSALYSNLSGHRGSQTGTSIGGDARRGFLGSGYSSSATTQQENSYGKAVSSQTNVRTFSPTYGLLRNTEAQVKTFPDRPKAGDTREVPVYIGEDSTIARESYRDRRDKVAAGASESTRSNERTVILGKKTEVKATREQERNRPETIRTKPEEKMFDSKEKASEERNLRWEELTKLDKEARQRESQQMKEKAKEKDSPKEKSVREREVPISLEVSQDRRAEVSPKGLQTPVKDAGGGTGREAEARELRFRLGTSDATGSLQGDSMTETVAENIVTSILKQFTQSPETEASADSFPDTKVTYVDRKELPGERKTKTEIVVESKLTEDVDVSDEAGLDYLLSKDIKEVGLKGKSAEQMIGDIINLGLKGREGRAKVVNVEIVEEPVSYVSGEKPEEFSVPFKVEEVEDVSPGPWGLVKEEEGYGESDVTFSVNQHRRTKQPQENTTHVEEVTEAGDSEGEQSYFVSTPDEHPGGHDRDDGSVYGQIHIEEESTIRYSWQDEIVQGTRRRTQKDGAVGEKVVKPLDVPAPSLEGDLGSTHWKEQARSGEFHAEPTVIEKEIKIPHEFHTSMKGISSKEPRQQLVEVIGQLEETLPERMREELSALTREGQGGPGSVSVDVKKVQGAGGSSVTLVAEVNVSQTVDADRLDLEELSKDEASEMEKAVESVVRESLSRQRSPAPGSPDEEGGAEAPAAGIRFRRWATRELYIPSGESEVAGGASHSSGQRTPQGPVSATVEVSSPTGFAQSQVLEDVSQAARHIKLGPSEVWRTERMSYEGPTAEVVEMDVSNVEAIRSRTQEAGALGVSDRGSWRDADSRNDQAVGVSFKASAGEGDQAHREQGKEQAMFDKKVQLQRMVDQRSVISDEKKVALLYLDNEEEENDGHWF", "length": 967, "header": "tr|H0YL34-1|SYNEM_HUMAN Computationally mapped isoform of Synemin OS=Homo sapiens OX=9606 GN=SYNM PE=1 SV=1 CANONICAL=O15061-1" }, "locus": { "chromosome": "15", "start_pos": 99133055, "end_pos": 99113639, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560674.5", "url": "https://www.ensembl.org/id/ENST00000560674.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453040.1", "url": "https://www.ensembl.org/id/ENSP00000453040.1" } ] } }, { "isoform_ac": "O15061-1", "url": "", "sequence": { "sequence": "MLSWRLQTGPEKAELQELNARLYDYVCRVRELERENLLLEEELRGRRGREGLWAEGQARCAEEARSLRQQLDELSWATALAEGERDALRRELRELQRLDAEERAARGRLDAELGAQQRELQEALGARAALEALLGRLQAERRGLDAAHERDVRELRARAASLTMHFRARATGPAAPPPRLREVHDSYALLVAESWRETVQLYEDEVRELEEALRRGQESRLQAEEETRLCAQEAEALRREALGLEQLRARLEDALLRMREEYGIQAEERQRVIDCLEDEKATLTLAMADWLRDYQDLLQVKTGLSLEVATYRALLEGESNPEIVIWAEHVENMPSEFRNKSYHYTDSLLQRENERNLFSRQKAPLASFNHSSALYSNLSGHRGSQTGTSIGGDARRGFLGSGYSSSATTQQENSYGKAVSSQTNVRTFSPTYGLLRNTEAQVKTFPDRPKAGDTREVPVYIGEDSTIARESYRDRRDKVAAGASESTRSNERTVILGKKTEVKATREQERNRPETIRTKPEEKMFDSKEKASEERNLRWEELTKLDKEARQRESQQMKEKAKEKDSPKEKSVREREVPISLEVSQDRRAEVSPKGLQTPVKDAGGGTGREAEARELRFRLGTSDATGSLQGDSMTETVAENIVTSILKQFTQSPETEASADSFPDTKVTYVDRKELPGERKTKTEIVVESKLTEDVDVSDEAGLDYLLSKDIKEVGLKGKSAEQMIGDIINLGLKGREGRAKVVNVEIVEEPVSYVSGEKPEEFSVPFKVEEVEDVSPGPWGLVKEEEGYGESDVTFSVNQHRRTKQPQENTTHVEEVTEAGDSEGEQSYFVSTPDEHPGGHDRDDGSVYGQIHIEEESTIRYSWQDEIVQGTRRRTQKDGAVGEKVVKPLDVPAPSLEGDLGSTHWKEQARSGEFHAEPTVIEKEIKIPHEFHTSMKGISSKEPRQQLVEVIGQLEETLPERMREELSALTREGQGGPGSVSVDVKKVQGAGGSSVTLVAEVNVSQTVDADRLDLEELSKDEASEMEKAVESVVRESLSRQRSPAPGSPDEEGGAEAPAAGIRFRRWATRELYIPSGESEVAGGASHSSGQRTPQGPVSATVEVSSPTGFAQSQVLEDVSQAARHIKLGPSEVWRTERMSYEGPTAEVVEVSAGGDLSQAASPTGASRSVRHVTLGPGQSPLSREVIFLGPAPACPEAWGSPEPGPAESSADMDGSGRHSTFGCRQFHAEKEIIFQGPISAAGKVGDYFATEESVGTQTSVRQLQLGPKEGFSGQIQFTAPLSDKVELGVIGDSVHMEGLPGSSTSIRHISIGPQRHQTTQQIVYHGLVPQLGESGDSESTVHGEGSADVHQATHSHTSGRQTVMTEKSTFQSVVSESPQEDSAEDTSGAEMTSGVSRSFRHIRLGPTETETSEHIAIRGPVSRTFVLAGSADSPELGKLADSSRTLRHIAPGPKETSFTFQMDVSNVEAIRSRTQEAGALGVSDRGSWRDADSRNDQAVGVSFKASAGEGDQAHREQGKEQAMFDKKVQLQRMVDQRSVISDEKKVALLYLDNEEEENDGHWF", "length": 1565, "header": "sp|O15061-1|SYNEM_HUMAN Isoform 1 of Synemin OS=Homo sapiens OX=9606 GN=SYNM PE=1 SV=3 CANONICAL=O15061-1" }, "locus": { "chromosome": "15", "start_pos": 99133055, "end_pos": 99105200, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000336292.11", "url": "https://www.ensembl.org/id/ENST00000336292.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000336775.7", "url": "https://www.ensembl.org/id/ENSP00000336775.7" } ] } }, { "isoform_ac": "O15061-2", "url": "", "sequence": { "sequence": "MLSWRLQTGPEKAELQELNARLYDYVCRVRELERENLLLEEELRGRRGREGLWAEGQARCAEEARSLRQQLDELSWATALAEGERDALRRELRELQRLDAEERAARGRLDAELGAQQRELQEALGARAALEALLGRLQAERRGLDAAHERDVRELRARAASLTMHFRARATGPAAPPPRLREVHDSYALLVAESWRETVQLYEDEVRELEEALRRGQESRLQAEEETRLCAQEAEALRREALGLEQLRARLEDALLRMREEYGIQAEERQRVIDCLEDEKATLTLAMADWLRDYQDLLQVKTGLSLEVATYRALLEGESNPEIVIWAEHVENMPSEFRNKSYHYTDSLLQRENERNLFSRQKAPLASFNHSSALYSNLSGHRGSQTGTSIGGDARRGFLGSGYSSSATTQQENSYGKAVSSQTNVRTFSPTYGLLRNTEAQVKTFPDRPKAGDTREVPVYIGEDSTIARESYRDRRDKVAAGASESTRSNERTVILGKKTEVKATREQERNRPETIRTKPEEKMFDSKEKASEERNLRWEELTKLDKEARQRESQQMKEKAKEKDSPKEKSVREREVPISLEVSQDRRAEVSPKGLQTPVKDAGGGTGREAEARELRFRLGTSDATGSLQGDSMTETVAENIVTSILKQFTQSPETEASADSFPDTKVTYVDRKELPGERKTKTEIVVESKLTEDVDVSDEAGLDYLLSKDIKEVGLKGKSAEQMIGDIINLGLKGREGRAKVVNVEIVEEPVSYVSGEKPEEFSVPFKVEEVEDVSPGPWGLVKEEEGYGESDVTFSVNQHRRTKQPQENTTHVEEVTEAGDSEGEQSYFVSTPDEHPGGHDRDDGSVYGQIHIEEESTIRYSWQDEIVQGTRRRTQKDGAVGEKVVKPLDVPAPSLEGDLGSTHWKEQARSGEFHAEPTVIEKEIKIPHEFHTSMKGISSKEPRQQLVEVIGQLEETLPERMREELSALTREGQGGPGSVSVDVKKVQGAGGSSVTLVAEVNVSQTVDADRLDLEELSKDEASEMEKAVESVVRESLSRQRSPAPGSPDEEGGAEAPAAGIRFRRWATRELYIPSGESEVAGGASHSSGQRTPQGPVSATVEVSSPTGFAQSQVLEDVSQAARHIKLGPSEVWRTERMSYEGPTAEVVEMDVSNVEAIRSRTQEAGALGVSDRGSWRDADSRNDQAVGVSFKASAGEGDQAHREQGKEQAMFDKKVQLQRMVDQRSVISDEKKVALLYLDNEEEENDGHWF", "length": 1253, "header": "sp|O15061-2|SYNEM_HUMAN Isoform 2 of Synemin OS=Homo sapiens OX=9606 GN=SYNM PE=1 SV=3 CANONICAL=O15061-1" }, "locus": {} }, { "isoform_ac": "O15061-3", "url": "", "sequence": { "sequence": "MLSWRLQTGPEKAELQELNARLYDYVCRVRELERENLLLEEELRGRRGREGLWAEGQARCAEEARSLRQQLDELSWATALAEGERDALRRELRELQRLDAEERAARGRLDAELGAQQRELQEALGARAALEALLGRLQAERRGLDAAHERDVRELRARAASLTMHFRARATGPAAPPPRLREVHDSYALLVAESWRETVQLYEDEVRELEEALRRGQESRLQAEEETRLCAQEAEALRREALGLEQLRARLEDALLRMREEYGIQAEERQRVIDCLEDEKATLTLAMADWLRDYQDLLQVKTGLSLEVATYRALLEGESNPEIVIWAEHVENMPSDGCE", "length": 339, "header": "sp|O15061-3|SYNEM_HUMAN Isoform 3 of Synemin OS=Homo sapiens OX=9606 GN=SYNM PE=1 SV=3 CANONICAL=O15061-1" }, "locus": {} } ], "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": 389, "start_aa": "Ser", "end_pos": 389, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser389", "evidence": [ { "id": "O15061", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15061" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "O15061", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15061" } ] } ], "phosphorylation": [ { "start_pos": 1044, "end_pos": 1044, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15061", "url": "http://phospho.elm.eu.org/byAccession/O15061.html" } ], "site_lbl": "Ser1044" }, { "start_pos": 1049, "end_pos": 1049, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "O15061", "url": "http://phospho.elm.eu.org/byAccession/O15061.html" } ], "site_lbl": "Ser1049" }, { "start_pos": 1077, "end_pos": 1077, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "site_lbl": "Ser1077" }, { "start_pos": 1087, "end_pos": 1087, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "site_lbl": "Ser1087" }, { "start_pos": 1107, "end_pos": 1107, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser1107" }, { "start_pos": 1181, "end_pos": 1181, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "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": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "O15061", "url": "http://phospho.elm.eu.org/byAccession/O15061.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser1181" }, { "start_pos": 1184, "end_pos": 1184, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "phospho.ELM", "id": "O15061", "url": "http://phospho.elm.eu.org/byAccession/O15061.html" } ], "site_lbl": "Ser1184" }, { "start_pos": 1241, "end_pos": 1241, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ], "site_lbl": "Ser1241" }, { "start_pos": 1435, "end_pos": 1435, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser1435" }, { "start_pos": 294, "end_pos": 294, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr294" }, { "start_pos": 427, "end_pos": 427, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Thr427" }, { "start_pos": 429, "end_pos": 429, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "32387766", "url": "" }, { "database": "PubMed", "id": "35260532", "url": "" }, { "database": "phospho.ELM", "id": "O15061", "url": "http://phospho.elm.eu.org/byAccession/O15061.html" } ], "site_lbl": "Ser429" }, { "start_pos": 431, "end_pos": 431, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "32387766", "url": "" }, { "database": "PubMed", "id": "32897882", "url": "" } ], "site_lbl": "Thr431" }, { "start_pos": 598, "end_pos": 598, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "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": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "O15061", "url": "http://phospho.elm.eu.org/byAccession/O15061.html" } ], "site_lbl": "Thr598" }, { "start_pos": 651, "end_pos": 651, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" } ], "site_lbl": "Thr651" }, { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15061", "url": "http://phospho.elm.eu.org/byAccession/O15061.html" } ], "site_lbl": "Ser653" }, { "start_pos": 777, "end_pos": 777, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "site_lbl": "Ser777" }, { "start_pos": 829, "end_pos": 829, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser829" }, { "start_pos": 8, "end_pos": 8, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr8" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Mizuno Y, Thompson TG, Guyon JR, Lidov HG, Brosius M, Imamura M, Ozawa E, Watkins SC, Kunkel LM", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "reference": [ { "type": "PubMed", "id": "11353857", "url": "https://glygen.org/publication/PubMed/11353857" } ] }, { "title": "Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.", "journal": "BMC Genet.", "date": "2001", "authors": "Mizuno Y, Puca AA, O'Brien KF, Beggs AH, Kunkel LM", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" } ], "reference": [ { "type": "PubMed", "id": "11454237", "url": "https://glygen.org/publication/PubMed/11454237" } ] }, { "title": "Human synemin gene generates splice variants encoding two distinct intermediate filament proteins.", "journal": "Eur. J. Biochem.", "date": "2001", "authors": "Titeux M, Brocheriou V, Xue Z, Gao J, Pellissier J F, Guicheney P, Paulin D, Li Z", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "reference": [ { "type": "PubMed", "id": "11737198", "url": "https://glygen.org/publication/PubMed/11737198" } ] }, { "title": "Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.", "journal": "Acta neuropathologica", "date": "2003", "authors": "Olive M, Goldfarb L, Dagvadorj A, Sambuughin N, Paulin D, Li Z, Goudeau B, Vicart P, Ferrer I", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" } ], "reference": [ { "type": "PubMed", "id": "12669240", "url": "https://glygen.org/publication/PubMed/12669240" } ] }, { "title": "Synemin expression in developing normal and pathological human retina and lens.", "journal": "Exp. Neurol.", "date": "2003", "authors": "Tawk Marcel, Titeux Matthias, Fallet Catherine, Li Zhenlin, Daumas-Duport Catherine, Cavalcante Leny A, Paulin Denise, Moura-Neto Vivaldo", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "reference": [ { "type": "PubMed", "id": "14552890", "url": "https://glygen.org/publication/PubMed/14552890" } ] }, { "title": "Interactions of intermediate filament protein synemin with dystrophin and utrophin.", "journal": "Biochemical and biophysical research communications", "date": "2006-08-04", "authors": "Bhosle Rahul C, Michele Daniel E, Campbell Kevin P, Li Zhenlin, Robson Richard M", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "reference": [ { "type": "PubMed", "id": "16777071", "url": "https://glygen.org/publication/PubMed/16777071" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "iPTMnet", "id": "O15061-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Human alpha-synemin interacts directly with vinculin and metavinculin.", "journal": "The Biochemical journal", "date": "2008-02-01", "authors": "Sun Ning, Critchley David R, Paulin Denise, Li Zhenlin, Robson Richard M", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "reference": [ { "type": "PubMed", "id": "18028034", "url": "https://glygen.org/publication/PubMed/18028034" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "O15061-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "Identification of a repeated domain within mammalian alpha-synemin that interacts directly with talin.", "journal": "Exp. Cell Res.", "date": "2008", "authors": "Sun N, Critchley DR, Paulin D, Li Z, Robson RM", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" } ], "reference": [ { "type": "PubMed", "id": "18342854", "url": "https://glygen.org/publication/PubMed/18342854" } ] }, { "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": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "iPTMnet", "id": "O15061-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "iPTMnet", "id": "O15061-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "O15061-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O15061-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "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": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "iPTMnet", "id": "O15061-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O15061-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "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": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O15061", "url": "https://www.uniprot.org/uniprot/O15061" }, { "database": "iPTMnet", "id": "O15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15061" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15061", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15061" }, { "database": "O-GlcNAc Atlas", "id": "O15061", "url": "https://oglcnac.org/atlas/detail/O15061" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy.", "journal": "Annals of human genetics", "date": "2019", "authors": "Zhang SB, Liu YX, Fan LL, Huang H, Li JJ, Jin JY, Xiang R", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" } ], "reference": [ { "type": "PubMed", "id": "30276801", "url": "https://glygen.org/publication/PubMed/30276801" } ] }, { "title": "Identification of the intermediate filament protein synemin/SYNM as a target of myocardin family coactivators.", "journal": "American journal of physiology. Cell physiology", "date": "2019", "authors": "Sward K, Krawczyk KK, Moren B, Zhu B, Matic L, Holmberg J, Hedin U, Uvelius B, Stenkula K, Rippe C", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" } ], "reference": [ { "type": "PubMed", "id": "31461342", "url": "https://glygen.org/publication/PubMed/31461342" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15061", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15061" }, { "database": "O-GlcNAc Atlas", "id": "O15061", "url": "https://oglcnac.org/atlas/detail/O15061" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "c-Abl Tyrosine Kinase Is Regulated Downstream of the Cytoskeletal Protein Synemin in Head and Neck Squamous Cell Carcinoma Radioresistance and DNA Repair.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Deville SS, Delgadillo Silva LF, Vehlow A, Cordes N", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" } ], "reference": [ { "type": "PubMed", "id": "33019757", "url": "https://glygen.org/publication/PubMed/33019757" } ] }, { "title": "A risk model of gene signatures for predicting platinum response and survival in ovarian cancer.", "journal": "Journal of ovarian research", "date": "2022", "authors": "Chen S, Wu Y, Wang S, Wu J, Wu X, Zheng Z", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" } ], "reference": [ { "type": "PubMed", "id": "35361267", "url": "https://glygen.org/publication/PubMed/35361267" } ] }, { "title": "Synemin promotes pulmonary artery smooth muscle cell phenotypic switch in shunt-induced pulmonary arterial hypertension.", "journal": "ESC heart failure", "date": "2022-10", "authors": "Zhou Jingjing", "evidence": [ { "database": "RefSeq", "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101" } ], "reference": [ { "type": "PubMed", "id": "35769011", "url": "https://glygen.org/publication/PubMed/35769011" } ] } ], "pathway": [ { "id": "hsa:23336", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23336", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V9G5-1", "protein_name": "Synemin", "gene_name": "Synm", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLSWRLQTSSEKAELQELNARLYEYVCRVRELERENLLLEEELRSRLSREDRWAEDQALYAEEARSLRQQLDELSWSTALAEGERDALRRELLDLQREGLEASTARGRLDAELEAQRRELEEALGARAALEALLGRLEAERRDLDAAHERQVRELRARASSLTMHFRARATGPAAPPPRLRDVHDSYALLVAESWRESMQLYEDEVRELEQALRRGQESRLQAEDEARLCAQEADALRNQALELEQLRARLEDELLRMREEYGMQAEERQRVIDSLEDEKDALTLAMADRLREYQELLQVKTGLSLEVATYRALLEGESNPEILIWTENIENVPRESRNTSYRYTDSVLQRKNEKNLFPRRKTPWAAVNHSSTLYSNGPGHLDSQTTTAVGNAARRGFLTSCYSSSATTSQQKPLEKTVSSQASLRPVIPTHGFLRNTDAQVKTFSHGPKAEGMGDTLTRRATESVITRESYRGHQGNVAAGAVNSTQSNERTVILGKKLETQATKEQERDRSGVVKLKPEEKMFDSKEKASEERNLRWEELTKLDARERESQHLRNEAKGKETLTGRSRKEREVPISLEVSRGSKSEVSTIHLQSSGRKDSANSREREVKTKETKFHLDGKDTAGSLQSDSTTETIAENIVTTILKQFTQSPGAEENVSSLPDTKVTYLDRKEFPGDRKTKTEIVMESKLTEDVDVSDEAGLDYLLSKDVKEVGLKGKSTETVIGEMINLGLKGREGRAKVVNVEIVEEPMSYVGGGKVEFSTPFQVEEVDDVSPSPKGFIEEEEGEGETHMAFSMHQRQRTNQPQVNVPHVEEVTEAGDSEGEQSYFVSTPDEYPGGHDREDDGSVYGQIHIEEESTIRYSWQDEIAQGTWRRKARGDTGEEKHMKVLEVPSASLGGAFGSAHVKEEASGELHAEPTIIEKEIKIPHEFHTSIKGVFSSEPRHQLVEVIGQLEETLPERMKEELSALTRQSQGEPGSVSVDVKKVQSSAGGSVTLMAEVNLSQTVDADQLDLEELSRDEAGEIEKAVESVVRESLTKRSSPVPRSPDREDGEEAPAGGFLFKRWATRELYSPSGEKDDTDRVFHSSDQRVTQGPVSATVEVTSPTGFVQSHVLEDVSQSVRHVKLGPTEMWRTEQVSYGGPTSPVVEVSEDFSEAVSSEGASRSVRHVTLGPRQNRVSTEVIFRGSVPTGQETGDTGEPDPAALSVEADISGSGRMPGSQQAHNEKETPFPGPISGAAQVGSNFSTEGSVGTQTFVRHLQLGSREGFREEIQFIAPIPDRAEWGEEDSGYTRVSLGRSTSIQHIDIVPQRYQASKQVAPQTLGFRDSEGVVLVERSAGMTQATHNFTSDREILKKEENTFQRVISGSPPDSVGDTGAEVTENISRSFRHIQIGPTEEDPSEYIVTSGPLSKTFVLDSSVASPGPGGGADGSSTPCHIALGPKETSFTFQMGVSDTRAIRSWTRDTGSEVEAHSVSHHGGWRVAHSRDEQSASTSSQASAGDAHQARGEKGTEQAGFDKTVQLQRMVDQRSVASDEKKVALLYLDNEEEEEGEGWF", "length": 1557 }, "evidence": [ { "id": "45921428", "url": "http://www.informatics.jax.org/homology/45921428", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q70IV5-1", "protein_name": "Synemin", "gene_name": "Synm", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLSWRLQTGSEKAELQELNARLYDYVCRVRELERENLLLEEELRSRLSREDRWAEDQALYAEEARSLRQQLDELNWSTALAEGERDALRRELLELQREGVEAGTARSRLDAELGAQRRELEEALGARAALEALLGRLETERRDLDAAHERQVRDLRARAASLTMHFRARATSPAAPPPRLRDVHDSYALLVAESWRESVQLYEDEVRELEQALRRGQESRLQAEDEARLCAQEADALRNQALELEQLRARLEDELLRMREEYGMQAEERQRVIDSLEDEKEALTLAMADRLRDYQELLQVKTGLSLEVATYRALLEGESNPEILIWTENIENVPQEPRNTSYRYTNSVLQRKNEKNLFPRRKTPWAAVNHSSASYSNWPGHLDSQTTTAVGSAARRGLLTSRHSSSATTSGQQKPLEKTISSRANLRPVTPTHGFLRNTDAQMKTLPHRSKVEGTGDTHARRATESVITRESYRGHQGHVAAGAVSSTPSNERTVILGKKLEAQATKEQERDRSGVIRIKPEEKMFDSKEKASEERNLRWEELTKLDRDARKRESRHLRDEAREKEALKERSVKEREVPISLEVSRGSRAEVSTIHLQSPGRKDVSHSGGREAETKETRFRLDTQDTASSLQSDSTTETIAESIVTTILKQFTQSPGAEEEATSFPDTKVTYVDRKEFPGDGKTKTEIVVESKLTDVVDVSDEAGLDYLLSKDVKEVGLKGKSTETMIGEMINLGLKGREGRAKVVNVEIVEEPMSYIGGGKIDFSTPFQVEEVDDVSPSPKGFVEEEDGEGETHMAFSMRPHQTKQPQGTIPHVEEVTEAGDSEGEQSYFVSTPDEYPGGHDREDDGSVYGQIHIEEESTIRYSWQDEIAQGTWRRKMRGDVGGEKPVKVLEVPALSLGGAIGSAHLKEEASGELRAEPTVIEKEIKIPHEFHTSIKGVFSSEPRHQLVEVIGQLEETLPERMKEELSALTRQSQGESGSVSVDVKKVQSAAGGSVTLMAEVNLSQTVDADQLDLEQLSRDEAGEIERAVESVVRESLAKRSSPVPRSPDREDGEEVPAGGILFKRWATRELYSPSGERDDAGQVSPSSDQRVTQGPVSATVEVTSPTGFVQSHVLEDVSQSVRHVKLGPTEMWRTEQVTFGGPTAQVVEVSGDFSEAVSSEGASRSVRHITLGPHQSQVSTEVIFRGSVPTWQETGDTEKPGPVVLSVGADISGSGRMPGSERSHTEKEIRFQGPVSGTAQVGGNFATEESVGSQTFVRSLQLGPKEGFREEIQFIAPIPDKVGWGEEDSEHTKVSLERATSIQRIDIVPQRYLASKQMAPQTLEFRDSEDMVMVEGSAGTIQATHNFTSDREILQNKENTFQRVISGSPPDSVGDTGAEVTANVSRSFRHIQIGPTEEEPSEYFVTGRPVSKTFVLDGSVASPGLVGGADGGSTPCRIALGPKETSFTFQMDLSDTRAIRSWTRDTGSEVEAHGVSHRGGWRIAHSRDERVASTGSGASPGDAHQAPGEKGTEQAGFDKTVQLQRMVDQRSVASDEKKVALLYLDNEEEEEEEGEGWF", 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