{ "uniprot_canonical_ac": "O95613-1", "uniprot_ac": "O95613", "uniprot_id": "PCNT_HUMAN", "mass": { "chemical_mass": 378037.0, "monoisotopic_mass": 378037.0 }, "refseq": { "ac": "NP_001302458", "name": "pericentrin isoform 2", "summary": "The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" }, "gene_names": [ { "name": "PCNT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95613", "id": "O95613" }, { "name": "KEN; MOPD2; PCN; PCNT2; PCNTB; PCTN2; SCKL4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458", "id": "NP_001302458" }, { "name": "KIAA0402", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95613", "id": "O95613" }, { "name": "PCNT2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95613", "id": "O95613" }, { "name": "PCNT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458", "id": "NP_001302458" } ], "protein_names": [ { "name": "Pericentrin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95613" }, { "name": "Kendrin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95613" }, { "name": "Pericentrin-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95613" }, { "name": "pericentrin isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458", "id": "NP_001302458" }, { "name": "pericentrin-2; pericentrin-380; kendrin; pericentrin-B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458", "id": "NP_001302458" } ], "function": [ { "annotation": "Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women.", "evidence": [ { "database": "RefSeq", "id": "NP_001302458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" }, { "database": "PubMed", "id": "34418690", "url": "https://glygen.org/publication/PubMed/34418690" } ] }, { "annotation": "Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.", "evidence": [ { "database": "RefSeq", "id": "NP_001302458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" }, { "database": "PubMed", "id": "33460028", "url": "https://glygen.org/publication/PubMed/33460028" } ] }, { "annotation": "Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome.", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613#function" }, { "database": "PubMed", "id": "20599736", "url": "https://glygen.org/publication/PubMed/20599736" }, { "database": "PubMed", "id": "18955030", "url": "https://glygen.org/publication/PubMed/18955030" }, { "database": "PubMed", "id": "10823944", "url": "https://glygen.org/publication/PubMed/10823944" }, { "database": "PubMed", "id": "30420784", "url": "https://glygen.org/publication/PubMed/30420784" }, { "database": "PubMed", "id": "11171385", "url": "https://glygen.org/publication/PubMed/11171385" } ] }, { "annotation": "PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest.", "evidence": [ { "database": "RefSeq", "id": "NP_001302458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" }, { "database": "PubMed", "id": "37211383", "url": "https://glygen.org/publication/PubMed/37211383" } ] }, { "annotation": "Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001302458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" }, { "database": "PubMed", "id": "37937642", "url": "https://glygen.org/publication/PubMed/37937642" } ] }, { "annotation": "The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001302458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" } ] }, { "annotation": "Triple deletion of TP53, PCNT, and CEP215 promotes centriole amplification in the M phase.", "evidence": [ { "database": "RefSeq", "id": "NP_001302458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" }, { "database": "PubMed", "id": "34233584", "url": "https://glygen.org/publication/PubMed/34233584" } ] } ], "disease": [ { "disease_id": "DOID:0060609", "recommended_name": { "id": "DOID:0060609", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060609", "name": "microcephalic osteodysplastic primordial dwarfism type II", "description": "A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly." }, "synonyms": [ { "id": "DOID:0060609", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060609", "name": "osteodysplastic primordial dwarfism type II", "description": "" }, { "id": "DOID:0060609", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060609", "name": "Majewski osteodysplastic primordial dwarfism type II", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "microcephalic osteodysplastic primordial dwarfism type II", "description": "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "MOPD type II", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "Majewski osteodysplastic primordial dwarfism type II", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "osteodysplastic primordial dwarfism type II", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "MOPD II", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "MOPD2", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "Mopd 2", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "microcephalic osteodysplastic primordial dwarfism type 2", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "microcephalic osteodysplastic primordial dwarfism, type 2", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "microcephalic osteodysplastic primordial dwarfism, type II", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "osteodysplastic primordial dwarfism type 2", "description": "" }, { "id": "MONDO:0008872", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008872", "name": "osteodysplastic primordial dwarfism, type 2", "description": "" }, { "id": "MIM:210720", "resource": "MIM", "url": "https://www.omim.org/entry/210720", "name": "Microcephalic osteodysplastic primordial dwarfism 2", "description": "Microcephalic osteodysplastic primordial dwarfism 2" } ], "evidence": [ { "id": "210720", "database": "MIM", "url": "https://www.omim.org/entry/210720" } ] } ], "snv": [ { "evidence": [ { "id": "rs777005278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777005278" }, { "id": "rs777005278", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777005278" }, { "id": "rs777005278", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777005278#frequency_tab" }, { "id": "rs777005278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777005278" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1262, "end_pos": 1262, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "21", "chr_pos": "46389376", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1262", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1199795987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199795987" }, { "id": "rs1199795987", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1199795987#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1276, "end_pos": 1276, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "21", "chr_pos": "46389417", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1276", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398478614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398478614" }, { "id": "rs1398478614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398478614" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1688, "end_pos": 1688, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "21", "chr_pos": "46402431", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1688", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771490397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771490397" }, { "id": "rs771490397", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771490397" }, { "id": "rs771490397", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771490397" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1843, "end_pos": 1843, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "21", "chr_pos": "46411600", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771490397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771490397" }, { "id": "rs771490397", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771490397" }, { "id": "rs771490397", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771490397" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1843, "end_pos": 1843, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "21", "chr_pos": "46411600", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs915922018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915922018" }, { "id": "rs915922018", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915922018" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2041, "end_pos": 2041, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEM->NET).", "chr_id": "21", "chr_pos": "46412964", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2041", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs998008536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs998008536" }, { "id": "rs998008536", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs998008536#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2112, "end_pos": 2112, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "21", "chr_pos": "46416252", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146006811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146006811" }, { "id": "rs146006811", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146006811" }, { "id": "rs146006811", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146006811#frequency_tab" }, { "id": "rs146006811", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146006811" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2187, "end_pos": 2187, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DMS->NMS).", "chr_id": "21", "chr_pos": "46416477", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95613", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95613" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2233, "end_pos": 2233, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DWT->NWT).", "chr_id": "21", "chr_pos": "46416615", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D2233", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1309491602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309491602" }, { "id": "rs1309491602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1309491602#frequency_tab" }, { "id": "rs1309491602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309491602" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2257, "end_pos": 2257, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "21", "chr_pos": "46416687", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2257", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1315814227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315814227" }, { "id": "rs1315814227", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1315814227#frequency_tab" }, { "id": "rs1315814227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315814227" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2431, "end_pos": 2431, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "21", "chr_pos": "46425942", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2431", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95613", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95613" }, { "id": "rs141561546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141561546" }, { "id": "rs141561546", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141561546" }, { "id": "rs141561546", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141561546" }, { "id": "rs141561546", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141561546" }, { "id": "rs141561546", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141561546#frequency_tab" }, { "id": "rs141561546", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141561546" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2439, "end_pos": 2439, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->M).", "chr_id": "21", "chr_pos": "46425967", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T2439", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95613" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"length": 3336, "header": "sp|O95613-1|PCNT_HUMAN Isoform 1 of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=4 CANONICAL=O95613-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3SHV6-1", "url": "", "sequence": { "sequence": "MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDICKSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQQKQVNDHPPEQCGMFTVSDHPPEQHGMFTVVSDHPPEQRGMFTISDHQPEQRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQAVHGLELEALRLSLSNMHTAQLELTQANLQKEKETALTELREMLNSRRAQELALLQSRQQHELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLENLRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLREDLQSEHGRCLEDLEFKFKESEKEKQLELENLQASYEDLKAQSQEEIRRLWSQLDSARTSRQELSELHEQLLARTSRVEDLEQLKQREKTQHESELEQLRIYFEKKLRDAEKTYQEDLTLLQQRLQGAREDALLDSVEVGLSCVGLEEKPEKGRKDHVDELEPERHKESLPRFQAELEESHRHQLEALESPLCIQHEGHVSDRCCVETSALGHEWRLEPSEGHSQELPWVHLQGVQDGDLEADTERAARVLGLETEHKVQLSLLQTELKEEIELLKIENRNLYGKLQHETRLKDDLEKVKHNLIEDHQKELNNAKQK", "length": 712, "header": "tr|A0A8Q3SHV6-1|PCNT_HUMAN Computationally mapped isoform of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=1 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46363536, "end_pos": 46324229, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695526.1", "url": "https://www.ensembl.org/id/ENST00000695526.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511988.1", "url": "https://www.ensembl.org/id/ENSP00000511988.1" } ] } }, { "isoform_ac": "A0A8Q3SHY5-1", "url": "", "sequence": { "sequence": "CQVELDRRQARRATAHTRVPGAHPQPRMDGGAKAQVTGDVEASHDAALEPVVPDPQGDLQPVLVTLKDAPLCKQEGVMSVLTVCQRQLQSELLLVKNEMRLSLEDGGKGKEKVLEDCQLPKVDLVAQVKQLQEKLNRLLYSMTFQNVDAADTKSLWPMASAHLLESSWSDDSCDGEEPDISPHIDTCDANTATGGVTDVIKNQAIDACDANTTPGGVTDVIKNWDSLIPDEMPDSPIQEKSECQDMSLSSPTSVLGGSRHQSHTAEAGPRKSPVGMLDLSSWSSPEVLRKDWTLEPWPSLPVTPHSGALSLCSADTSLGDRADTSLPQTQGPGLLCSPGVSAAALALQWAESPPADDHHVQRTAVEKDVEDFITTSFDSQETLSSPPPGLEGKADRSEKSDGSGFGARLSPGSGGPEAQTAGPVTPASISGRFQPLPEAMKEKEVRPKHVKEVPTACPDWRGDLLQVVQEAFEKEQEMQGVELQPRLSGSDLGGHSSLLERLEKIIREQGDLQEKSLEHLRLPDRSSLLSEIQALRAQLRMTHLQNQEKLQHLRTALTSAEARGSQQEHQLRRQVELLAYKVEQEKCIAGDLQKTLSEEQEKANSVQKLLAAEQTVVRDLKSDLCESRQKSEQLSRSLCEVQQEVLQLRSMLSSKENELKAALQELESEQGKGRALQSQLEEEQLRHLQRESQSAKALEELRASLETQRAQSSRLCVALKHEQTAKDNLQKELRIEHSRCEALLAQERSQLSELQKDLAAEKSRTLELSEALRHERLLTEQLSQRTQEACVHQDTQAHHALLQKLKEEKSRVVDLQAMLEKVQQQALHSQQQLEAEAQKHCEALRREKEVSATLKSTVEALHTQKRELRCSLEREREKPAWLQAELEQSHPRLKEQEGRKAARRSAEARQSPAAAEQWRKWQRDKEKLRELELQRQRDLHKIKQLQQTVRDLESKDEVPGSRLHLGSARRAAGSDADHLREQQRELEAMRQRLLSAARLLTSFTSQAVDRTVNDWTSSNEKAVMSLLHTLEELKSDLSRPTSSQKKMAAELQFQFVDVLLKDNVSLTKALSTVTQEKLELSRAVSKLEKLLKHHLQKGCSPSRSERSAWKPDETAPQSSLRRPDPGRLPPAASEEAHTSNVKMEKLYLHYLRAESFRKALIYQKKYLLLLIGGFQDSEQETLSMIAHLGVFPSKAERKITSRPFTRFRTAVRVVIAILRLRFLVKKWQEVDRKGALAQGKAPRPGPRARQPQSPPRTRESPPTRDVPSGHTRDPARGRRLAAAASPHSGGRATPSPNSRLERSLTASQDPEHSLTEYIHHLEVIQQRLGGVLPDSTSKKSCHPMIKQ", "length": 1347, "header": "tr|A0A8Q3SHY5-1|A0A8Q3SHY5_HUMAN Computationally mapped isoform of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=1 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46445324, "end_pos": 46411900, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695528.1", "url": "https://www.ensembl.org/id/ENST00000695528.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511990.1", "url": "https://www.ensembl.org/id/ENSP00000511990.1" } ] } }, { "isoform_ac": "A0A8Q3SHZ3-1", "url": "", "sequence": { "sequence": "MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDICKSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQQKQVNDHPPEQCGMFTVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPEQRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQAVHGLELEALRLSLSNMHTAQLELTQANLQKEKETALTELREMLNSRRAQELALLQSRQQHELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLENLRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLREDLQSEHGRCLEDLEFKFKESEKEKQLELENLQASYEDLKAQSQEEIRRLWSQLDSARTSRQELSELHEQLLARTSRVEDLEQLKQREKTQHESELEQLRIYFEKKLRDAEKTYQEDLTLLQQRLQGAREDALLDSVEVGLSCVGLEEKPEKGRKDHVDELEPERHKESLPRFQAELEESHRHQLEALESPLCIQHEGHVSDRCCVETSALGHEWRLEPSEGHSQELPWVHLQGVQDGDLEADTERAARVLGLETEHKVQLSLLQTELKEEIELLKIENRNLYGKLQHETRLKDDLEKVKHNLIEDHQKELNNAKQKTELMKQEFQRKETDWKVMKEELQREAEEKLTLMLLELREKAESEKQTIINKFELREAEMRQLQDQQAAQILDLERSLTEQQGRLQQLEQDLTSDDALHCSQCGREPPTAQDGELAALHVKEDCALQLMLARSRFLEERKEITEKFSAEQDAFLQEAQEQHARELQLLQERHQQQLLSVTAELEARHQAALGELTASLESKQGALLAARVAELQTKHAADLGALETRHLSSLDSLESCYLSEFQTIREEHRQALELLRADFEEQLWKKDSLHQTILTQELEKLKRKHEGELQSVRDHLRTEVSTELAGTVAHELQGVHQGEFGSEKKTALHEKEETLRLQSAQAQPFHQEEKESLSLQLQKKNHQVQQLKDQVLSLSHEIEECRSELEVLQQRRERENREGANLLSMLKADVNLSHSERGALQDALRRLLGLFGETLRAAVTLRSRIGERVGLCLDDAGAGLALSTAPALEETWSDVALPELDRTLSECAEMSSVAEISSHMRESFLMSPESVRECEQPIRRVFQSLSLAVDGLMEMALDSSRQLEEARQIHSRFEKEFSFKNEETAQVVRKHQELLECLKEESAAKAELALELHKTQGTLEGFKVETADLKEVLAGKEDSEHRLVLELESLRRQLQQAAQEQAALREECTRLWSRGEATATDAEAREAGTAVTAAHKDSALRKEVEDLTKEQSETRKQAEKDRSALLSQMKILESELEEQLSQHRGCAKQAEAVTALEQQVASLDKHLRNQRQFMDEQAAEREHEREEFQQEIQRLEGQLRQAAKPQPWGPRDSQQAPLDGEVELLQQKLREKLDEFNELAIQKESADRQVLMQEEEIKRLEEMNINIRKKVAQLQEEVEKQKNIVKGLEQDKEVLKKQQMSSLLLASTLQSTLDAGRCPEPPSGSPPEGPEIQLEVTQRALLRRESEVLDLKEQLEKMKGDLESKNEEILHLNLKLDMQNSQTAVSLRELEEENTSLKVIYTRSSEIEELKATIENLQENQKRLQKEKAEEIEQLHEVIEKLQHELSLMGPVVHEVSDSQAGSLQSELLCSQAGGPRGQALQGELEAALEAKEALSRLLADQERRHSQALEALQQRLQGAEEAAELQLAELERNVALREAEVEDMASRIQEFEAALKAKEATIAERNLEIDALNQRKAAHSAELEAVLLALARIRRALEQQPLAAGAAPPELQWLRAQCARLSRQLQVLHQRFLRCQVELDRRQARRATAHTRVPGAHPQPRMDGGAKAQVTGDVEASHDAALEPVVPDPQGDLQPVLVTLKDAPLCKQEGVMSVLTVCQRQLQSELLLVKNEMRLSLEDGGKGKEKVLEDCQLPKVDLVAQVKQLQEKLNRLLYSMTFQNVDAADTKSLWPMASAHLLESSWSDDSCDGEEPDISPHIDTCDANTATGGVTDVIKNQAIDACDANTTPGGVTDVIKNWDSLIPDEMPDSPIQEKSECQDMSLSSPTSVLGGSRHQSHTAEAGPRKSPVGMLDLSSWSSPEVLRKDWTLEPWPSLPVTPHSGALSLCSADTSLGDRADTSLPQTQGPGLLCSPGVSAAALALQWAESPPADDHHVQRTAVEKDVEDFITTSFDSQETLSSPPPGLEGKADRSEKSDGSGFGARLSPGSGGPEAQTAGPVTPASISGRFQPLPEAMKEKEVRPKHVKALLQMVRDESHQILALSEGLAPPSGEPHPPRKEDEIQDISLHGGKTQEVPTACPDWRGDLLQVVQEAFEKEQEMQGVELQPRLSGSDLGGHSSLLERLEKIIREQGDLQEKSLEHLRLPDRSSLLSEIQALRAQLRMTHLQNQEKLQHLRTALTSAEARGSQQEHQLRRQVELLAYKVEQEKCIAGDLQKTLSEEQEKANSVQKLLAAEQTVVRDLKSDLCESRQKSEQLSRSLCEVQQEVLQLRSMLSSKENELKAALQELESEQGKGRALQSQLEEEQLRHLQRESQSAKALEELRASLETQRAQSSRLCVALKHEQTAKDNLQKELRIEHSRCEALLAQERSQLSELQKDLAAEKSRTLELSEALRHERLLTEQLSQRTQEACVHQDTQAHHALLQKLKEEKSRVVDLQAMLEKVQQQALHSQQQLEAEAQKHCEALRREKEVSATLKSTVEALHTQKRELRCSLEREREKPAWLQAELEQSHPRLKEQEGRKAARRSAEARQSPAAAEQWRKWQRDKEKLRELELQRQRDLHKIKQLQQTVRDLESKDEVPGSRLHLGSARRAAGSDADHLREQQRELEAMRQRLLSAARLLTSFTSQAVDRTVNDWTSSNEKAVMSLLHTLEELKSDLSRPTSSQKKMAAELQFQFVDVLLKDNVSLTKALSTVTQEKLELSRAVSKLEKLLKHHLQKGCSPSRSERSAWKPDETAPQSSLRRPDPGRLPPAASEEAHTSNVKMEKLYLHYLRAESFRKALIYQKKYLLLLIGGFQDSEQETLSMIAHLGVFPSKAERKITSRPFTRFRTAVRVVIAILRLRFLVKKWQEVDRKGALAQGKAPRPGPRARQPQSPPRTRESPPTRDVPSGHTRDPARGRRLAAAASPHSGGRATPSPNSRLERSLTASQDPEHSLTEYIHHLEVIQQRLGGVLPDSTSKKSCHPMIKQ", "length": 3347, "header": "tr|A0A8Q3SHZ3-1|A0A8Q3SHZ3_HUMAN Computationally mapped isoform of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=1 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46445324, "end_pos": 46324229, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695558.1", "url": "https://www.ensembl.org/id/ENST00000695558.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512015.1", "url": "https://www.ensembl.org/id/ENSP00000512015.1" } ] } }, { "isoform_ac": "A0A8Q3SHZ8-1", "url": "", "sequence": { "sequence": "XLLQMVRDESHQILALSEGLAPPSGEPHPPRKEDEIQDISLHGGKTQEVPTACPDWRGDLLQVVQEAFEKEQEMQGVELQPRLSGSDLGGHSSLLERLEKIIREQGDLQEKSLEHLRLPDRSSLLSEIQALRAQLRMTHLQNQEKLQHLRTALTSAEARGSQQEHQLRRQVELLAYKVEQEKCIAGDLQKTLSEEQEKANSVQKLLAAEQTVVRDLKSDLCESRQKSEQLSRSLCEVQQEVLQLRSMLSSKENELKAALQELESEQGKGRALQSQLEEEQLRHLQRESQSAKALEELRASLETQRAQSSRLCVALKHEQTAKDNLQKELRIEHSRCEALLAQERSQLSELQKDLAAEKSRTLELSEALRHERLLTEQLSQRTQEACVHQDTQAHHALLQKLKEEKSRVVDLQAMLEKVQQQALHSQQQLEAEAQKHCEALRREKERELELQRQRDLHKIKQLQQTVRDLESKDEVPGSRLHLGSARRAAGSDADHLREQQRELEAMRQRLLSAARLLTSFTSQAVDRTVNDWTSSNEKAVMSLLHTLEELKSDLSRPTSSQKKMAAELQFQFVDVLLKDNVSLTKALSTVTQEKLELSRAVSKLEKLLKHHLQKGCSPSRSERSAWKPDETAPQSSLRRPDPGRLPPAASEEAHTSNVKMEKLYLHYLRAESFRKALIYQKKYLLLLIGGFQDSEQETLSMIAHLGVFPSKAERKITSRPFTRFRTAVRVVIAILRFYFKEILPPDD", "length": 747, "header": "tr|A0A8Q3SHZ8-1|A0A8Q3SHZ8_HUMAN Computationally mapped isoform of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=1 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46445319, "end_pos": 46425833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695530.1", "url": "https://www.ensembl.org/id/ENST00000695530.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511991.1", "url": "https://www.ensembl.org/id/ENSP00000511991.1" } ] } }, { "isoform_ac": "A0A8Q3SI04-1", "url": "", "sequence": { "sequence": "MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDICKSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQQKQVNDHPPEQCGMFTVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPEQRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQAVHGLELEALRLSLSNMHTAQLELTQANLQKEKETALTELREMLNSRRAQELALLQSRQQHELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLENLRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLREDLQSEHGRCLEDLEFKFKESEKEKQLESYMSNSWRAPLVWKI", "length": 463, "header": "tr|A0A8Q3SI04-1|PCNT_HUMAN Computationally mapped isoform of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=1 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46353148, "end_pos": 46324229, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466474.6", "url": "https://www.ensembl.org/id/ENST00000466474.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000511987.1", "url": "https://www.ensembl.org/id/ENSP00000511987.1" } ] } }, { "isoform_ac": "A0A8V8TQ91-1", "url": "", "sequence": { "sequence": "MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDICKSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQQKQVNDHPPEQCGMFTVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPEQRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQRPFLRRRPCMALSWRRCA", "length": 258, "header": "tr|A0A8V8TQ91-1|A0A8V8TQ91_HUMAN Computationally mapped isoform of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=1 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46346776, "end_pos": 46324229, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000490468.5", "url": "https://www.ensembl.org/id/ENST00000490468.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000515241.1", "url": "https://www.ensembl.org/id/ENSP00000515241.1" } ] } }, { "isoform_ac": "A0A8V8TQT6-1", "url": "", "sequence": { "sequence": "MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDICKSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQQKQVNDHPPEQCGMFTVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPEQRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKFPVTTVFQGYSGHSSLPQPFTKVVSSLRQGLTVLTGLVLNSWAQVILLPRPPKCWDYRSVNKNVNLPLLTWRAAVKMRLACIRVRPCMALSWRRCA", "length": 309, "header": "tr|A0A8V8TQT6-1|PCNT_HUMAN Computationally mapped isoform of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=1 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46346776, "end_pos": 46324229, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703224.1", "url": "https://www.ensembl.org/id/ENST00000703224.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515242.1", "url": "https://www.ensembl.org/id/ENSP00000515242.1" } ] } }, { "isoform_ac": "H7C2A3-1", "url": "", "sequence": { "sequence": "XLLQMVRDESHQILALSEGLAPPSGEPHPPRKEDEIQDISLHGGKTQEVPTACPDWRGDLLQVVQEAFEKEQEMQGVELQPRLSGSDLGGHSSLLERLEKIIREQGDLQEKSLEHLRLPDRSSLLSEIQALRAQLRMTHLQNQEKLQHLRTALTSAEARGSQQEHQLRRQVELLAYKVEQEKCIAGDLQKTLSEEQEKANSVQKLLAAEQTVVRDLKSDLCESRQKSEQLSRSLCEVQQEVLQLRSMLSSKENELKAALQELESEQGKGRALQSQLEEEQLRHLQRESQSAKALEELRASLETQRAQSSRLCVALKHEQTAKDNLQKELRIEHSRCEALLAQERSQLSELQKDLAAEKSRTLELSEALRHERLLTEQLSQRTQEACVHQDTQAHHALLQKLKEEKSRVVDLQAMLEKVQQQALHSQQQLEAEAQKHCEALRREKERELELQRQRDLHKIKQLQQTVRDLESKDEVPGSRLHLGSARRAAGSDADHLREQQRELEAMRQRLLSAARLLTSFTSQAVDRTVNDWTSSNEKAVMSLLHTLEELKSDLSRPTSSQKKMAAELQFQFVDVLLKDNVSLTKALSTVTQEKLELSRAVSKLEKLLKHHLQKGCSPSRSERSAWKPDETAPQSSLRRPDPGRLPPAASEEAHTSNVKMEKLYLHYLRAESFRKALIYQKKYLLLLIGGFQDSEQETLSMIAHLGVFPSKAERKITSRPFTRFRTAVRVVIAILRLRFLVKKWQEVDRKGALAQGKAPRPDSTSKKSCHPMIKQ", "length": 775, "header": "tr|H7C2A3-1|PCNT_HUMAN Computationally mapped isoform of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=2 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46445326, "end_pos": 46425833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418394.2", "url": "https://www.ensembl.org/id/ENST00000418394.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000404708.2", "url": "https://www.ensembl.org/id/ENSP00000404708.2" } ] } }, { "isoform_ac": "O95613-1", "url": "", "sequence": { "sequence": "MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDICKSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQQKQVNDHPPEQCGMFTVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPEQRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQAVHGLELEALRLSLSNMHTAQLELTQANLQKEKETALTELREMLNSRRAQELALLQSRQQHELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLENLRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLREDLQSEHGRCLEDLEFKFKESEKEKQLELENLQASYEDLKAQSQEEIRRLWSQLDSARTSRQELSELHEQLLARTSRVEDLEQLKQREKTQHESELEQLRIYFEKKLRDAEKTYQEDLTLLQQRLQGAREDALLDSVEVGLSCVGLEEKPEKGRKDHVDELEPERHKESLPRFQAELEESHRHQLEALESPLCIQHEGHVSDRCCVETSALGHEWRLEPSEGHSQELPWVHLQGVQDGDLEADTERAARVLGLETEHKVQLSLLQTELKEEIELLKIENRNLYGKLQHETRLKDDLEKVKHNLIEDHQKELNNAKQKTELMKQEFQRKETDWKVMKEELQREAEEKLTLMLLELREKAESEKQTIINKFELREAEMRQLQDQQAAQILDLERSLTEQQGRLQQLEQDLTSDDALHCSQCGREPPTAQDGELAALHVKEDCALQLMLARSRFLEERKEITEKFSAEQDAFLQEAQEQHARELQLLQERHQQQLLSVTAELEARHQAALGELTASLESKQGALLAARVAELQTKHAADLGALETRHLSSLDSLESCYLSEFQTIREEHRQALELLRADFEEQLWKKDSLHQTILTQELEKLKRKHEGELQSVRDHLRTEVSTELAGTVAHELQGVHQGEFGSEKKTALHEKEETLRLQSAQAQPFHQEEKESLSLQLQKKNHQVQQLKDQVLSLSHEIEECRSELEVLQQRRERENREGANLLSMLKADVNLSHSERGALQDALRRLLGLFGETLRAAVTLRSRIGERVGLCLDDAGAGLALSTAPALEETWSDVALPELDRTLSECAEMSSVAEISSHMRESFLMSPESVRECEQPIRRVFQSLSLAVDGLMEMALDSSRQLEEARQIHSRFEKEFSFKNEETAQVVRKHQELLECLKEESAAKAELALELHKTQGTLEGFKVETADLKEVLAGKEDSEHRLVLELESLRRQLQQAAQEQAALREECTRLWSRGEATATDAEAREAALRKEVEDLTKEQSETRKQAEKDRSALLSQMKILESELEEQLSQHRGCAKQAEAVTALEQQVASLDKHLRNQRQFMDEQAAEREHEREEFQQEIQRLEGQLRQAAKPQPWGPRDSQQAPLDGEVELLQQKLREKLDEFNELAIQKESADRQVLMQEEEIKRLEEMNINIRKKVAQLQEEVEKQKNIVKGLEQDKEVLKKQQMSSLLLASTLQSTLDAGRCPEPPSGSPPEGPEIQLEVTQRALLRRESEVLDLKEQLEKMKGDLESKNEEILHLNLKLDMQNSQTAVSLRELEEENTSLKVIYTRSSEIEELKATIENLQENQKRLQKEKAEEIEQLHEVIEKLQHELSLMGPVVHEVSDSQAGSLQSELLCSQAGGPRGQALQGELEAALEAKEALSRLLADQERRHSQALEALQQRLQGAEEAAELQLAELERNVALREAEVEDMASRIQEFEAALKAKEATIAERNLEIDALNQRKAAHSAELEAVLLALARIRRALEQQPLAAGAAPPELQWLRAQCARLSRQLQVLHQRFLRCQVELDRRQARRATAHTRVPGAHPQPRMDGGAKAQVTGDVEASHDAALEPVVPDPQGDLQPVLVTLKDAPLCKQEGVMSVLTVCQRQLQSELLLVKNEMRLSLEDGGKGKEKVLEDCQLPKVDLVAQVKQLQEKLNRLLYSMTFQNVDAADTKSLWPMASAHLLESSWSDDSCDGEEPDISPHIDTCDANTATGGVTDVIKNQAIDACDANTTPGGVTDVIKNWDSLIPDEMPDSPIQEKSECQDMSLSSPTSVLGGSRHQSHTAEAGPRKSPVGMLDLSSWSSPEVLRKDWTLEPWPSLPVTPHSGALSLCSADTSLGDRADTSLPQTQGPGLLCSPGVSAAALALQWAESPPADDHHVQRTAVEKDVEDFITTSFDSQETLSSPPPGLEGKADRSEKSDGSGFGARLSPGSGGPEAQTAGPVTPASISGRFQPLPEAMKEKEVRPKHVKALLQMVRDESHQILALSEGLAPPSGEPHPPRKEDEIQDISLHGGKTQEVPTACPDWRGDLLQVVQEAFEKEQEMQGVELQPRLSGSDLGGHSSLLERLEKIIREQGDLQEKSLEHLRLPDRSSLLSEIQALRAQLRMTHLQNQEKLQHLRTALTSAEARGSQQEHQLRRQVELLAYKVEQEKCIAGDLQKTLSEEQEKANSVQKLLAAEQTVVRDLKSDLCESRQKSEQLSRSLCEVQQEVLQLRSMLSSKENELKAALQELESEQGKGRALQSQLEEEQLRHLQRESQSAKALEELRASLETQRAQSSRLCVALKHEQTAKDNLQKELRIEHSRCEALLAQERSQLSELQKDLAAEKSRTLELSEALRHERLLTEQLSQRTQEACVHQDTQAHHALLQKLKEEKSRVVDLQAMLEKVQQQALHSQQQLEAEAQKHCEALRREKEVSATLKSTVEALHTQKRELRCSLEREREKPAWLQAELEQSHPRLKEQEGRKAARRSAEARQSPAAAEQWRKWQRDKEKLRELELQRQRDLHKIKQLQQTVRDLESKDEVPGSRLHLGSARRAAGSDADHLREQQRELEAMRQRLLSAARLLTSFTSQAVDRTVNDWTSSNEKAVMSLLHTLEELKSDLSRPTSSQKKMAAELQFQFVDVLLKDNVSLTKALSTVTQEKLELSRAVSKLEKLLKHHLQKGCSPSRSERSAWKPDETAPQSSLRRPDPGRLPPAASEEAHTSNVKMEKLYLHYLRAESFRKALIYQKKYLLLLIGGFQDSEQETLSMIAHLGVFPSKAERKITSRPFTRFRTAVRVVIAILRLRFLVKKWQEVDRKGALAQGKAPRPGPRARQPQSPPRTRESPPTRDVPSGHTRDPARGRRLAAAASPHSGGRATPSPNSRLERSLTASQDPEHSLTEYIHHLEVIQQRLGGVLPDSTSKKSCHPMIKQ", "length": 3336, "header": "sp|O95613-1|PCNT_HUMAN Isoform 1 of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=4 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46445324, "end_pos": 46324229, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359568.10", "url": "https://www.ensembl.org/id/ENST00000359568.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000352572.5", "url": "https://www.ensembl.org/id/ENSP00000352572.5" } ] } }, { "isoform_ac": "O95613-2", "url": "", "sequence": { "sequence": "MFTVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPEQRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQAVHGLELEALRLSLSNMHTAQLELTQANLQKEKETALTELREMLNSRRAQELALLQSRQQHELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLENLRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLREDLQSEHGRCLEDLEFKFKESEKEKQLELENLQASYEDLKAQSQEEIRRLWSQLDSARTSRQELSELHEQLLARTSRVEDLEQLKQREKTQHESELEQLRIYFEKKLRDAEKTYQEDLTLLQQRLQGAREDALLDSVEVGLSCVGLEEKPEKGRKDHVDELEPERHKESLPRFQAELEESHRHQLEALESPLCIQHEGHVSDRCCVETSALGHEWRLEPSEGHSQELPWVHLQGVQDGDLEADTERAARVLGLETEHKVQLSLLQTELKEEIELLKIENRNLYGKLQHETRLKDDLEKVKHNLIEDHQKELNNAKQKTELMKQEFQRKETDWKVMKEELQREAEEKLTLMLLELREKAESEKQTIINKFELREAEMRQLQDQQAAQILDLERSLTEQQGRLQQLEQDLTSDDALHCSQCGREPPTAQDGELAALHVKEDCALQLMLARSRFLEERKEITEKFSAEQDAFLQEAQEQHARELQLLQERHQQQLLSVTAELEARHQAALGELTASLESKQGALLAARVAELQTKHAADLGALETRHLSSLDSLESCYLSEFQTIREEHRQALELLRADFEEQLWKKDSLHQTILTQELEKLKRKHEGELQSVRDHLRTEVSTELAGTVAHELQGVHQGEFGSEKKTALHEKEETLRLQSAQAQPFHQEEKESLSLQLQKKNHQVQQLKDQVLSLSHEIEECRSELEVLQQRRERENREGANLLSMLKADVNLSHSERGALQDALRRLLGLFGETLRAAVTLRSRIGERVGLCLDDAGAGLALSTAPALEETWSDVALPELDRTLSECAEMSSVAEISSHMRESFLMSPESVRECEQPIRRVFQSLSLAVDGLMEMALDSSRQLEEARQIHSRFEKEFSFKNEETAQVVRKHQELLECLKEESAAKAELALELHKTQGTLEGFKVETADLKEVLAGKEDSEHRLVLELESLRRQLQQAAQEQAALREECTRLWSRGEATATDAEAREAALRKEVEDLTKEQSETRKQAEKDRSALLSQMKILESELEEQLSQHRGCAKQAEAVTALEQQVASLDKHLRNQRQFMDEQAAEREHEREEFQQEIQRLEGQLRQAAKPQPWGPRDSQQAPLDGEVELLQQKLREKLDEFNELAIQKESADRQVLMQEEEIKRLEEMNINIRKKVAQLQEEVEKQKNIVKGLEQDKEVLKKQQMSSLLLASTLQSTLDAGRCPEPPSGSPPEGPEIQLEVTQRALLRRESEVLDLKEQLEKMKGDLESKNEEILHLNLKLDMQNSQTAVSLRELEEENTSLKVIYTRSSEIEELKATIENLQENQKRLQKEKAEEIEQLHEVIEKLQHELSLMGPVVHEVSDSQAGSLQSELLCSQAGGPRGQALQGELEAALEAKEALSRLLADQERRHSQALEALQQRLQGAEEAAELQLAELERNVALREAEVEDMASRIQEFEAALKAKEATIAERNLEIDALNQRKAAHSAELEAVLLALARIRRALEQQPLAAGAAPPELQWLRAQCARLSRQLQVLHQRFLRCQVELDRRQARRATAHTRVPGAHPQPRMDGGAKAQVTGDVEASHDAALEPVVPDPQGDLQPVLVTLKDAPLCKQEGVMSVLTVCQRQLQSELLLVKNEMRLSLEDGGKGKEKVLEDCQLPKVDLVAQVKQLQEKLNRLLYSMTFQNVDAADTKSLWPMASAHLLESSWSDDSCDGEEPDISPHIDTCDANTATGGVTDVIKNQAIDACDANTTPGGVTDVIKNWDSLIPDEMPDSPIQEKSECQDMSLSSPTSVLGGSRHQSHTAEAGPRKSPVGMLDLSSWSSPEVLRKDWTLEPWPSLPVTPHSGALSLCSADTSLGDRADTSLPQTQGPGLLCSPGVSAAALALQWAESPPADDHHVQRTAVEKDVEDFITTSFDSQETLSSPPPGLEGKADRSEKSDGSGFGARLSPGSGGPEAQTAGPVTPASISGRFQPLPEAMKEKEVRPKHVKALLQMVRDESHQILALSEGLAPPSGEPHPPRKEDEIQDISLHGGKTQEVPTACPDWRGDLLQVVQEAFEKEQEMQGVELQPRLSGSDLGGHSSLLERLEKIIREQGDLQEKSLEHLRLPDRSSLLSEIQALRAQLRMTHLQNQEKLQHLRTALTSAEARGSQQEHQLRRQVELLAYKVEQEKCIAGDLQKTLSEEQEKANSVQKLLAAEQTVVRDLKSDLCESRQKSEQLSRSLCEVQQEVLQLRSMLSSKENELKAALQELESEQGKGRALQSQLEEEQLRHLQRESQSAKALEELRASLETQRAQSSRLCVALKHEQTAKDNLQKELRIEHSRCEALLAQERSQLSELQKDLAAEKSRTLELSEALRHERLLTEQLSQRTQEACVHQDTQAHHALLQKLKEEKSRVVDLQAMLEKVQQQALHSQQQLEAEAQKHCEALRREKERELELQRQRDLHKIKQLQQTVRDLESKDEVPGSRLHLGSARRAAGSDADHLREQQRELEAMRQRLLSAARLLTSFTSQAVDRTVNDWTSSNEKAVMSLLHTLEELKSDLSRPTSSQKKMAAELQFQFVDVLLKDNVSLTKALSTVTQEKLELSRAVSKLEKLLKHHLQKGCSPSRSERSAWKPDETAPQSSLRRPDPGRLPPAASEEAHTSNVKMEKLYLHYLRAESFRKALIYQKKYLLLLIGGFQDSEQETLSMIAHLGVFPSKAERKITSRPFTRFRTAVRVVIAILRLRFLVKKWQEVDRKGALAQGKAPRPGPRARQPQSPPRTRESPPTRDVPSGHTRDPARGRRLAAAASPHSGGRATPSPNSRLERSLTASQDPEHSLTEYIHHLEVIQQRLGGVLPDSTSKKSCHPMIKQ", "length": 3139, "header": "sp|O95613-2|PCNT_HUMAN Isoform 2 of Pericentrin OS=Homo sapiens OX=9606 GN=PCNT PE=1 SV=4 CANONICAL=O95613-1" }, "locus": { "chromosome": "21", "start_pos": 46445324, "end_pos": 46334484, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000480896.5", "url": "https://www.ensembl.org/id/ENST00000480896.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000511989.1", "url": "https://www.ensembl.org/id/ENSP00000511989.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2439, "start_aa": "Thr", "end_pos": 2439, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2439", "evidence": [ { "id": "O95613", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95613" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "O95613", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95613" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 3000, "start_aa": "Thr", "end_pos": 3000, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3000", "evidence": [ { "id": "O95613", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95613" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 3005, "start_aa": "Thr", "end_pos": 3005, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3005", "evidence": [ { "id": "O95613", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95613" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 3006, "start_aa": "Ser", "end_pos": 3006, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser3006", "evidence": [ { "id": "O95613", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95613" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 345, "start_aa": "Thr", "end_pos": 345, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr345", "evidence": [ { "id": "O95613", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95613" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "O95613", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95613" } ] }, { "glytoucan_ac": 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"title": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Andersen Jens S, Wilkinson Christopher J, Mayor Thibault, Mortensen Peter, Nigg Erich A, Mann Matthias", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "title": "The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress.", "journal": "Cell", "date": "2003", "authors": "Kawaguchi Y, Kovacs JJ, McLaurin A, Vance JM, Ito A, Yao TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9646399", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399" } ], "reference": [ { "type": "PubMed", "id": "14675537", "url": "https://glygen.org/publication/PubMed/14675537" } ] }, { "title": "XRHAMM functions in ran-dependent microtubule nucleation and pole formation during anastral spindle assembly.", "journal": "Current biology : CB", "date": "2004", "authors": "Groen AC, Cameron LA, Coughlin M, Miyamoto DT, Mitchison TJ, Ohi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "15498487", "url": "https://glygen.org/publication/PubMed/15498487" } ] }, { "title": "Receptor for hyaluronan-mediated motility correlates with centrosome abnormalities in multiple myeloma and maintains mitotic integrity.", "journal": "Cancer research", "date": "2005", "authors": "Maxwell CA, Keats JJ, Belch AR, Pilarski LM, Reiman T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "15705883", "url": "https://glygen.org/publication/PubMed/15705883" } ] }, { "title": 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"authors": "Spektor A, Tsang WY, Khoo D, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17719545", "url": "https://glygen.org/publication/PubMed/17719545" } ] }, { "title": "HDAC6 controls major cell response pathways to cytotoxic accumulation of protein aggregates.", "journal": "Genes & development", "date": "2007", "authors": "Boyault C, Zhang Y, Fritah S, Caron C, Gilquin B, Kwon SH, Garrido C, Yao TP, Vourc'h C, Matthias P, Khochbin S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9646399", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399" } ], "reference": [ { "type": "PubMed", "id": "17785525", "url": "https://glygen.org/publication/PubMed/17785525" } ] }, { "title": "Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Olzmann JA, Li L, Chudaev MV, Chen J, Perez FA, Palmiter RD, Chin LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9646399", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399" } ], "reference": [ { "type": "PubMed", "id": "17846173", "url": "https://glygen.org/publication/PubMed/17846173" } ] }, { "title": "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.", "journal": "Nature genetics", "date": "2007", "authors": "Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18037885", "url": "https://glygen.org/publication/PubMed/18037885" } ] }, { "title": "Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.", "journal": "Nat. Genet.", "date": "2008", "authors": "Griffith Elen, Walker Sarah, Martin Carol-Anne, Vagnarelli Paola, Stiff Tom, Vernay Bertrand, Al Sanna Nouriya, Saggar Anand, Hamel Ben, Earnshaw William C, Jeggo Penny A, Jackson Andrew P, O'Driscoll Mark", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "reference": [ { "type": "PubMed", "id": "18157127", "url": "https://glygen.org/publication/PubMed/18157127" } ] }, { "title": "Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.", "journal": "Science", "date": "2008", "authors": "Rauch Anita, Thiel Christian T, Schindler Detlev, Wick Ursula, Crow Yanick J, Ekici Arif B, van Essen Anthonie J, Goecke Timm O, Al-Gazali Lihadh, Chrzanowska Krystyna H, Zweier Christiane, Brunner Han G, Becker Kristin, Curry Cynthia J, Dallapiccola Bruno, Devriendt Koenraad, D\u00f6rfler Arnd, Kinning Esther, Megarbane Andr\u00e9, Meinecke Peter, Semple Robert K, Spranger Stephanie, Toutain Annick, Trembath Richard C, Voss Egbert, Wilson Louise, Hennekam Raoul, de Zegher Francis, D\u00f6rr Helmuth-G\u00fcnther, Reis Andr\u00e9", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "reference": [ { "type": "PubMed", "id": "18174396", "url": "https://glygen.org/publication/PubMed/18174396" } ] }, { "title": "Plk1- and beta-TrCP-dependent degradation of Bora controls mitotic progression.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Seki A, Coppinger JA, Du H, Jang CY, Yates JR 3rd, Fang G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18378770", "url": "https://glygen.org/publication/PubMed/18378770" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, 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Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18521620", "url": "https://glygen.org/publication/PubMed/18521620" } ] }, { "title": "Bora and the kinase Aurora a cooperatively activate the kinase Plk1 and control mitotic entry.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "Seki A, Coppinger JA, Jang CY, Yates JR, Fang G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18566290", "url": "https://glygen.org/publication/PubMed/18566290" } ] }, { "title": "Polo-like kinase-1 is activated by aurora A to promote checkpoint recovery.", "journal": "Nature", "date": "2008", "authors": "Macurek L, Lindqvist A, Lim D, Lampson MA, Klompmaker R, Freire R, Clouin C, Taylor SS, Yaffe MB, Medema RH", "evidence": [ { 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J, Chen C, Zhao X, Jiang T, Jiang Y, Dai J, Chen J", "evidence": [ { "database": "RefSeq", "id": "NP_001302458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" } ], "reference": [ { "type": "PubMed", "id": "34418690", "url": "https://glygen.org/publication/PubMed/34418690" } ] }, { "title": "PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest.", "journal": "Aging", "date": "2023-05-19", "authors": "Wang Xuyang, Yang Jinran, Luo Laibang, Li Xinchang, Zhang Youfu", "evidence": [ { "database": "RefSeq", "id": "NP_001302458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" } ], "reference": [ { "type": "PubMed", "id": "37211383", "url": "https://glygen.org/publication/PubMed/37211383" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95613", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95613" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation.", "journal": "JCI insight", "date": "2023-11-08", "authors": "Majumder Suravi, Chattopadhyay Abhijnan, Wright Jamie M, Guan Pujun, Buja L Maximilian, Kwartler Callie S, Milewicz Dianna M", "evidence": [ { "database": "RefSeq", "id": "NP_001302458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302458" } ], "reference": [ { "type": "PubMed", "id": "37937642", "url": "https://glygen.org/publication/PubMed/37937642" } ] }, { "title": "Mutation of the predicted p34cdc2 phosphorylation sites in NuMA impair the assembly of the mitotic spindle and block mitosis.", "journal": "Journal of cell science", "date": "1995", "authors": "Compton DA, Luo C", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "7769006", "url": "https://glygen.org/publication/PubMed/7769006" } ] }, { "title": "Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function.", "journal": "The Journal of cell biology", "date": "1995", "authors": "Golsteyn RM, Mundt KE, Fry AM, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "7790358", "url": "https://glygen.org/publication/PubMed/7790358" } ] }, { "title": "A receptor for the selective uptake and degradation of proteins by lysosomes.", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Cuervo AM, Dice JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9613829", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829" } ], "reference": [ { "type": "PubMed", "id": "8662539", "url": "https://glygen.org/publication/PubMed/8662539" } ] }, { "title": "Dynamic changes of NuMA during the cell cycle and possible appearance of a truncated form of NuMA during apoptosis.", "journal": "Journal of cell science", "date": "1996", "authors": "Hsu HL, Yeh NH", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "8838651", "url": "https://glygen.org/publication/PubMed/8838651" } ] }, { "title": "A population of rat liver lysosomes responsible for the selective uptake and degradation of cytosolic proteins.", "journal": "The Journal of biological chemistry", "date": "1997", 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"https://www.reactome.org/PathwayBrowser/#R-HSA-9646399" } ], "reference": [ { "type": "PubMed", "id": "9864362", "url": "https://glygen.org/publication/PubMed/9864362" } ] } ], "pathway": [ { "id": "hsa:5116", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5116", "resource": "KEGG Pathway" }, { "id": "R-HSA-2565942", "name": "Regulation of PLK1 Activity at G2/M Transition", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942", "resource": "Reactome", "description": "Regulation of PLK1 Activity at G2/M Transition" }, { "id": "R-HSA-380259", "name": "Loss of Nlp from mitotic centrosomes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259", "resource": "Reactome", "description": "Loss of Nlp from mitotic centrosomes" }, { "id": "R-HSA-380270", "name": "Recruitment of mitotic centrosome proteins and complexes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270", "resource": "Reactome", "description": "Recruitment of mitotic 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"length": 2898 }, "evidence": [ { "id": "45930692", "url": "http://www.informatics.jax.org/homology/45930692", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "positive regulation of intracellular protein transport", "id": "GO:0090316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090316", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "O95613", "url": "https://www.uniprot.org/uniprot/O95613" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1149, "end_pos": 1151, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1701, "end_pos": 1703, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2153, "end_pos": 2155, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3052, "end_pos": 3054, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Cleaved during mitotis which leads to removal of CDK5RAP2 from the centrosome and promotes centriole disengagement and subsequent centriole separation (PubMed:22722493, PubMed:25503564). 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"start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 33 }, { "field": "total_sites", "count": 27 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 24 }, { "field": "total_sites", "count": 19 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", 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