{ "uniprot_canonical_ac": "Q03188-1", "uniprot_ac": "Q03188", "uniprot_id": "CENPC_HUMAN", "mass": { "chemical_mass": 106834.0, "monoisotopic_mass": 106834.0 }, "refseq": { "ac": "NP_001803", "name": "centromere protein C isoform 1", "summary": "Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803" }, "gene_names": [ { "name": "CENPC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q03188", "id": "Q03188" }, { "name": "CENP-C; CENPC1; hcp-4; MIF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803", "id": "NP_001803" }, { "name": "CENPC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q03188", "id": "Q03188" }, { "name": "CENPC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803", "id": "NP_001803" }, { "name": "ICEN7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q03188", "id": "Q03188" } ], "protein_names": [ { "name": "Centromere protein C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q03188" }, { "name": "CENP-C 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q03188" }, { "name": "CENP-C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q03188" }, { "name": "Centromere autoantigen C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q03188" }, { "name": "Centromere protein C 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q03188" }, { "name": "Interphase centromere complex protein 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q03188" }, { "name": "centromere autoantigen C1; CENP-C 1; interphase centromere complex protein 7; centromere protein C 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803", "id": "NP_001803" }, { "name": "centromere protein C isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803", "id": "NP_001803" } ], "function": [ { "annotation": "A genetic memory initiates the epigenetic loop necessary to preserve centromere position.", "evidence": [ { "database": "RefSeq", "id": "NP_001803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803" }, { "database": "PubMed", "id": "32945564", "url": "https://glygen.org/publication/PubMed/32945564" } ] }, { "annotation": "CDK1-mediated CENP-C phosphorylation modulates CENP-A binding and mitotic kinetochore localization", "evidence": [ { "database": "RefSeq", "id": "NP_001803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803" }, { "database": "PubMed", "id": "31676716", "url": "https://glygen.org/publication/PubMed/31676716" } ] }, { "annotation": "Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803" } ] }, { "annotation": "Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPC recruits DNA methylation and DNMT3B to both centromeric and pericentromeric satellite repeats and regulates the histone code in these regions.", "evidence": [ { "database": "UniProtKB", "id": "Q03188", "url": "https://www.uniprot.org/uniprot/Q03188#function" }, { "database": "PubMed", "id": "19482874", "url": "https://glygen.org/publication/PubMed/19482874" }, { "database": "PubMed", "id": "21529714", "url": "https://glygen.org/publication/PubMed/21529714" } ] }, { "annotation": "The Elusive Structure of Centro-Chromatin: Molecular Order or Dynamic Heterogenetity? Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803" }, { "database": "PubMed", "id": "33065112", "url": "https://glygen.org/publication/PubMed/33065112" } ] }, { "annotation": "Two key conformational changes within the CENP-A nucleosome upon CENP-C binding, are reported.", "evidence": [ { "database": "RefSeq", "id": "NP_001803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001803" }, { "database": "PubMed", "id": "31475439", "url": "https://glygen.org/publication/PubMed/31475439" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs779772399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779772399" }, { "id": "rs779772399", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779772399" }, { "id": "rs779772399", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779772399#frequency_tab" }, { "id": "rs779772399", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779772399" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 131, "end_pos": 131, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTT).", "chr_id": "4", "chr_pos": "67519443", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755030583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755030583" }, { "id": "rs755030583", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755030583" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 136, "end_pos": 136, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "4", "chr_pos": "67519427_67519428i", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759716890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759716890" }, { "id": "rs759716890", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759716890" }, { "id": "rs759716890", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759716890" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 142, "end_pos": 142, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "4", "chr_pos": "67519409", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771158087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771158087" }, { "id": "rs771158087", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771158087" }, { "id": "rs771158087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771158087" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 144, "end_pos": 144, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HHS->NHS).", "chr_id": "4", "chr_pos": "67519404", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q03188", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q03188" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "4", "chr_pos": "67519336", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K166", "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": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1560436210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560436210" }, { "id": "rs1560436210", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1560436210" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 168, "end_pos": 168, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "4", "chr_pos": "67518204", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301976856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301976856" }, { "id": "rs1301976856", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301976856" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 247, "end_pos": 247, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRI->NRT).", "chr_id": "4", "chr_pos": "67518246", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1560436210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560436210" }, { "id": "rs1560436210", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1560436210" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 261, "end_pos": 261, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "4", "chr_pos": "67518204", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747277189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747277189" }, { "id": "rs747277189", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747277189" }, { "id": "rs747277189", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747277189#frequency_tab" }, { "id": "rs747277189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747277189" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 294, "end_pos": 294, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "4", "chr_pos": "67514638", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1445788135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445788135" }, { "id": "rs1445788135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445788135" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 309, "end_pos": 309, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQS->NQS).", "chr_id": "4", "chr_pos": "67514593", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D309", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q03188", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q03188" } ], "glycoeffect": [], "start_pos": 330, "end_pos": 330, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "67514529", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R330", "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": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"id": "H0Y9W1-1", "url": "https://www.uniprot.org/uniprot/H0Y9W1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q03188", "url": "https://www.uniprot.org/uniprot/Q03188", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q03188-1", "url": "https://www.uniprot.org/uniprot/Q03188-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q03188-2", "url": "https://www.uniprot.org/uniprot/Q03188-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAASGLDHLKNGYRRRFCRPSRARDINTEQGQNVLEILQDCFEEKSLANDFSTNSTKSVPNSTRKIKDTCIQSPSKECQKSHPKSVPVSSKKKEASLQFVVEPSEATNRSVQAHEVHQKILATDVSSKNTPDSKKISSRNINDHHSEADEEFYLSVGSPSVLLDAKTSVSQNVIPSSAQKRETYTFENSVNMLPSSTEVSVKTKKRLNFDDKVMLKKIEIDNKVSDEEDKTSEGQERKPSGSSQNRIRDSEYEIQRQAKKSFSTLFLETVKRKSESSPIVRHAATAPPHSCPPDDTKLIEDEFIIDESDQSFASRSWITIPRKAGSLKQRTISPAESTALLQGRKSREKHHNILPKTLANDKHSHKPHPVETSQPSDKTVLDTSYALIGETVNNYRSTKYEMYSKNAEKPSRSKRTIKQKQRRKFMAKPAEEQLDVGQSKDENIHTSHITQDEFQRNSDRNMEEHEEMGNDCVSKKQMPPVGSKKSSTRKDKEESKKKRFSSESKNKLVPEEVTSTVTKSRRISRRPSDWWVVKSEESPVYSNSSVRNELPMHHNSSRKSTKKTNQSSKNIRKKTIPLKRQKTATKGNQRVQKFLNAEGSGGIVGHDEISRCSLSEPLESDEADLAKKKNLDCSRSTRSSKNEDNIMTAQNVPLKPQTSGYTCNIPTESNLDSGEHKTSVLEESGPSRLNNNYLMSGKNDVDDEEVHGSSDDSKQSKVIPKNRIHHKLVLPSNTPNVRRTKRTRLKPLEYWRGERIDYQGRPSGGFVISGVLSPDTISSKRKAKENIGKVNKKSNKKRICLDNDERKTNLMVNLGIPLGDPLQPTRVKDPETREIILMDLVRPQDTYQFFVKHGELKVYKTLDTPFFSTGKLILGPQEEKGKQHVGQDILVFYVNFGDLLCTLHETPYILSTGDSFYVPSGNYYNIKNLRNEESVLLFTQIKR", "length": 943, "header": "sp|Q03188-1|CENPC_HUMAN Isoform 1 of Centromere protein C OS=Homo sapiens OX=9606 GN=CENPC PE=1 SV=2 CANONICAL=Q03188-1" }, "isoforms": [ { "isoform_ac": "H0Y8J2-1", "url": "", "sequence": { "sequence": "EASLQFVVEPSEATNRSVQAHEVHQKILATDVSSKNTPDSKKISSRNINDHHSEADEEFYLSVGSPSVLLDAKTSVSQNVIPSSAQKRETYTFENSVNMLPSSTEVSVKTKKRLNFDDKVMLKKIEIDNKVSDEEDKTSEGQERKPSGSSQNRIRDSEYEIQRQAKKSFSTLFLETVKRKSESSPIVRHAATAPPHSCPPDDTKLIEDEFIIDESDQSFASRSWITIPRKAGSLKQRTISPAESTALLQGRKSREKHHNILPKTLANDKHSHKPHPVETSQPSDKTVLDTSYALIGETVNNYRSTKYEMYSKNAEKPSRSKRTIKQKQRRKFMAKPAEEQLDVGQSKDENIHTSHITQDEFQRNSDRNMEEHEEMGNDCVSKKQMPPVGSKKSSTRKDKEESKKKRFSSESKNKLVPEEVTSTVTKSRRISRRPSDWWVVKSEESPVYSNSSVRNELPMHHNSSRKSTKKTNQSSKNIRKKTIPLKRQKTATKGNQRVQKFLNAEGSGGIVGHDEISRCSLSEPLESDEADLAKKKNLDCSRSTRSSKNEDNIMTAQNVPLKPQTSGYTCNIPTESNLDSGEHKTSVLEESGPSRLNNNYLMSGKNDVDDEEVHGSSDDSKQSKVIPKNRIHHKLVLPSNTPNVRRTKRTRLKPLEYWRGERIDYQGRPSGGFVISGVLSPDTISSKRKAKENIGKVNKKSNKKRICLDNDERSMNLFLKVTFRFYFK", "length": 728, "header": "tr|H0Y8J2-1|H0Y8J2_HUMAN Computationally mapped isoform of Centromere protein C OS=Homo sapiens OX=9606 GN=CENPC PE=1 SV=1 CANONICAL=Q03188-1" }, "locus": { "chromosome": "4", "start_pos": 67530866, "end_pos": 67492825, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513216.5", "url": "https://www.ensembl.org/id/ENST00000513216.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421234.1", "url": "https://www.ensembl.org/id/ENSP00000421234.1" } ] } }, { "isoform_ac": "H0Y9W1-1", "url": "", "sequence": { "sequence": "QSKVIPKNRIHHKLVLPSNTPNVRRTKRTRLKPLEYWRGERIDYQGRPSGGFVISGVLSPDTISSKRKAKENIGKVNKKSNKKRICLDNDERSMNLFLKVTFRFYFK", "length": 107, "header": "tr|H0Y9W1-1|H0Y9W1_HUMAN Computationally mapped isoform of Centromere protein C OS=Homo sapiens OX=9606 GN=CENPC PE=1 SV=1 CANONICAL=Q03188-1" }, "locus": { "chromosome": "4", "start_pos": 67495201, "end_pos": 67492825, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000515140.1", "url": "https://www.ensembl.org/id/ENST00000515140.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425255.1", "url": "https://www.ensembl.org/id/ENSP00000425255.1" } ] } }, { "isoform_ac": "Q03188-1", "url": "", "sequence": { "sequence": "MAASGLDHLKNGYRRRFCRPSRARDINTEQGQNVLEILQDCFEEKSLANDFSTNSTKSVPNSTRKIKDTCIQSPSKECQKSHPKSVPVSSKKKEASLQFVVEPSEATNRSVQAHEVHQKILATDVSSKNTPDSKKISSRNINDHHSEADEEFYLSVGSPSVLLDAKTSVSQNVIPSSAQKRETYTFENSVNMLPSSTEVSVKTKKRLNFDDKVMLKKIEIDNKVSDEEDKTSEGQERKPSGSSQNRIRDSEYEIQRQAKKSFSTLFLETVKRKSESSPIVRHAATAPPHSCPPDDTKLIEDEFIIDESDQSFASRSWITIPRKAGSLKQRTISPAESTALLQGRKSREKHHNILPKTLANDKHSHKPHPVETSQPSDKTVLDTSYALIGETVNNYRSTKYEMYSKNAEKPSRSKRTIKQKQRRKFMAKPAEEQLDVGQSKDENIHTSHITQDEFQRNSDRNMEEHEEMGNDCVSKKQMPPVGSKKSSTRKDKEESKKKRFSSESKNKLVPEEVTSTVTKSRRISRRPSDWWVVKSEESPVYSNSSVRNELPMHHNSSRKSTKKTNQSSKNIRKKTIPLKRQKTATKGNQRVQKFLNAEGSGGIVGHDEISRCSLSEPLESDEADLAKKKNLDCSRSTRSSKNEDNIMTAQNVPLKPQTSGYTCNIPTESNLDSGEHKTSVLEESGPSRLNNNYLMSGKNDVDDEEVHGSSDDSKQSKVIPKNRIHHKLVLPSNTPNVRRTKRTRLKPLEYWRGERIDYQGRPSGGFVISGVLSPDTISSKRKAKENIGKVNKKSNKKRICLDNDERKTNLMVNLGIPLGDPLQPTRVKDPETREIILMDLVRPQDTYQFFVKHGELKVYKTLDTPFFSTGKLILGPQEEKGKQHVGQDILVFYVNFGDLLCTLHETPYILSTGDSFYVPSGNYYNIKNLRNEESVLLFTQIKR", "length": 943, "header": "sp|Q03188-1|CENPC_HUMAN Isoform 1 of Centromere protein C OS=Homo sapiens OX=9606 GN=CENPC PE=1 SV=2 CANONICAL=Q03188-1" }, "locus": { "chromosome": "4", "start_pos": 67545355, "end_pos": 67472608, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000273853.11", "url": "https://www.ensembl.org/id/ENST00000273853.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000273853.6", "url": "https://www.ensembl.org/id/ENSP00000273853.6" } ] } }, { "isoform_ac": "Q03188-2", "url": "", "sequence": { "sequence": "MAASGLDHLKNGYRRRFCRPSRARDINTEQGQNVLEILQDCFEEKSLANDFSTNSTKSVPNSTRKIKDTCIQSPSKECQKSHPKSVPVSSKKKEASLQFVVEPSEATNRSVQAHEVHQKILATDVSSKNTPDSKKISSRNINDHHSEADEEFYLSVGSPSVLLDAKTSVSQNVIPSSAQKRETYTFENSVNMLPSSTEVSVKTKKRLNFDDKVMLKKIEIDNKVSDEEDKTSEGQERKPSGSSQNRIRDSEYEIQRQAKKSFSTLFLETVKRKSESSPIVRHAATAPPHSCPPDDTKLIEDEFIIDESDQSFASRSWITIPRKAGSLKQRTISPAESTALLQGRKSREKHHNILPKTLANDKHSHKPHPVETSQPSDKTVLDTSYALIGETVNNYRSTKYEMYSKNAEKPSRSKRTIKQKQRRKFMAKPAEEQLDVGQSKDENIHTSHITQDEFQRNSDRNMEEHEEMGNDCVSKKQMPPVGSKKSSTRKDKEESKKKRFSSESKNKLVPEEVTSTVTKSRRISRRPSDWWVVKSEESCLKC", "length": 542, "header": "sp|Q03188-2|CENPC_HUMAN Isoform 2 of Centromere protein C OS=Homo sapiens OX=9606 GN=CENPC PE=1 SV=2 CANONICAL=Q03188-1" }, "locus": { "chromosome": "4", "start_pos": 67545355, "end_pos": 67511012, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506882.5", "url": "https://www.ensembl.org/id/ENST00000506882.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426078.1", "url": "https://www.ensembl.org/id/ENSP00000426078.1" } ] } } ], "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": 568, "start_aa": "Ser", "end_pos": 568, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser568", "evidence": [ { "id": "Q03188", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q03188" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q03188", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q03188" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 743, "start_aa": "Thr", "end_pos": 743, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr743", "evidence": [ { "id": "Q03188", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q03188" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q03188", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q03188" } ] } ], "phosphorylation": [ { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q03188", "url": "http://phospho.elm.eu.org/byAccession/Q03188.html" } ], "site_lbl": "Ser126" }, { "start_pos": 130, "end_pos": 130, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q03188", "url": "https://www.uniprot.org/uniprot/Q03188" }, { "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": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "Q03188", "url": "http://phospho.elm.eu.org/byAccession/Q03188.html" } ], "site_lbl": "Thr130" }, { "start_pos": 133, "end_pos": 133, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser133" }, { "start_pos": 146, "end_pos": 146, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q03188", "url": "https://www.uniprot.org/uniprot/Q03188" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" } ], "site_lbl": "Ser146" }, { "start_pos": 158, "end_pos": 158, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser158" }, { "start_pos": 167, "end_pos": 167, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "phospho.ELM", "id": "Q03188", "url": "http://phospho.elm.eu.org/byAccession/Q03188.html" } ], "site_lbl": "Thr167" }, { "start_pos": 170, "end_pos": 170, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "phospho.ELM", "id": "Q03188", "url": "http://phospho.elm.eu.org/byAccession/Q03188.html" } ], "site_lbl": "Ser170" }, { "start_pos": 177, "end_pos": 177, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "phospho.ELM", "id": "Q03188", "url": "http://phospho.elm.eu.org/byAccession/Q03188.html" } ], "site_lbl": "Ser177" }, { "start_pos": 183, "end_pos": 183, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q03188", "url": "https://www.uniprot.org/uniprot/Q03188" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" } ], "site_lbl": "Thr183" }, { "start_pos": 189, "end_pos": 189, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q03188", "url": "https://www.uniprot.org/uniprot/Q03188" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" } ], "site_lbl": "Ser189" }, { "start_pos": 225, "end_pos": 225, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q03188", "url": "https://www.uniprot.org/uniprot/Q03188" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "Q03188", "url": "http://phospho.elm.eu.org/byAccession/Q03188.html" } ], "site_lbl": "Ser225" }, { "start_pos": 261, "end_pos": 261, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q03188", "url": "https://www.uniprot.org/uniprot/Q03188" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "phospho.ELM", "id": "Q03188", "url": "http://phospho.elm.eu.org/byAccession/Q03188.html" } ], "site_lbl": "Ser261" }, { "start_pos": 264, "end_pos": 264, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q03188", "url": "http://phospho.elm.eu.org/byAccession/Q03188.html" } ], "site_lbl": "Thr264" }, { "start_pos": 277, "end_pos": 277, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser277" }, { "start_pos": 308, "end_pos": 308, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser308" }, { "start_pos": 311, "end_pos": 311, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser311" }, { "start_pos": 316, "end_pos": 316, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q03188", "url": "https://www.uniprot.org/uniprot/Q03188" }, { "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": "Q03188", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03188" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q03188", "url": 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"authors": "Richards MW, O'Regan L, Roth D, Montgomery JM, Straube A, Fry AM, Bayliss R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9648025", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9648025" } ], "reference": [ { "type": "PubMed", "id": "25740311", "url": "https://glygen.org/publication/PubMed/25740311" } ] }, { "title": "System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.", "journal": "Mol. 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