{ "uniprot_canonical_ac": "O94986-4", "uniprot_ac": "O94986", "uniprot_id": "CE152_HUMAN", "mass": { "chemical_mass": 195626.0, "monoisotopic_mass": 195626.0 }, "refseq": { "ac": "NP_001181927", "name": "centrosomal protein of 152 kDa isoform 1", "summary": "This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" }, "gene_names": [ { "name": "CEP152", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94986", "id": "O94986" }, { "name": "CEP152", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927", "id": "NP_001181927" }, { "name": "KIAA0912", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94986", "id": "O94986" }, { "name": "MCPH4; MCPH9; SCKL5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927", "id": "NP_001181927" } ], "protein_names": [ { "name": "Centrosomal protein of 152 kDa", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94986" }, { "name": "Cep152", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94986" }, { "name": "asterless; microcephaly, primary autosomal recessive 4; centrosomal protein 152kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927", "id": "NP_001181927" }, { "name": "centrosomal protein of 152 kDa isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927", "id": "NP_001181927" } ], "function": [ { "annotation": "CEP152 is a strong candidate for the causal gene underlying MCPH4 and may be an important gene in the evolution of human brain size.", "evidence": [ { "database": "RefSeq", "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" }, { "database": "PubMed", "id": "20598275", "url": "https://glygen.org/publication/PubMed/20598275" } ] }, { "annotation": "Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning.", "evidence": [ { "database": "RefSeq", "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" }, { "database": "PubMed", "id": "37707473", "url": "https://glygen.org/publication/PubMed/37707473" } ] }, { "annotation": "Drosophila Asl and human CEP152 are required for the centrosomal loading of Plk4 in Drosophila and CPAP in human cells, respectively", "evidence": [ { "database": "RefSeq", "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" }, { "database": "PubMed", "id": "20852615", "url": "https://glygen.org/publication/PubMed/20852615" } ] }, { "annotation": "Necessary for centrosome duplication; the function seems also to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation (PubMed:21059844, PubMed:20852615). Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure (PubMed:24997597). Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles (PubMed:20852615).", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986#function" }, { "database": "PubMed", "id": "20852615", "url": "https://glygen.org/publication/PubMed/20852615" }, { "database": "PubMed", "id": "21059844", "url": "https://glygen.org/publication/PubMed/21059844" }, { "database": "PubMed", "id": "21131973", "url": "https://glygen.org/publication/PubMed/21131973" }, { "database": "UniProtKB", "id": "Q498G2", "url": "https://www.uniprot.org/uniprot/Q498G2#function" }, { "database": "UniProtKB", "id": "A2AUM9", "url": "https://www.uniprot.org/uniprot/A2AUM9#function" } ] }, { "annotation": "Observational study of genotype prevalence. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" }, { "database": "PubMed", "id": "20547088", "url": "https://glygen.org/publication/PubMed/20547088" } ] }, { "annotation": "Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring complex influences expression of CEP genes and favors tumorigenesis in glioma.", "evidence": [ { "database": "RefSeq", "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" }, { "database": "PubMed", "id": "34156311", "url": "https://glygen.org/publication/PubMed/34156311" } ] }, { "annotation": "Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" }, { "database": "PubMed", "id": "32152252", "url": "https://glygen.org/publication/PubMed/32152252" } ] }, { "annotation": "This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" } ] } ], "disease": [ { "disease_id": "DOID:0070012", "recommended_name": { "id": "DOID:0070012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070012", "name": "Seckel syndrome 5", "description": "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21." }, "synonyms": [ { "id": "DOID:0070012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070012", "name": "SCKL5", "description": "" }, { "id": "MONDO:0013443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013443", "name": "Seckel syndrome 5", "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene." }, { "id": "MONDO:0013443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013443", "name": "CEP152 Seckel syndrome", "description": "" }, { "id": "MONDO:0013443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013443", "name": "SCKL5", "description": "" }, { "id": "MONDO:0013443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013443", "name": "Seckel syndrome 5", "description": "" }, { "id": "MONDO:0013443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013443", "name": "Seckel syndrome caused by mutation in CEP152", "description": "" }, { "id": "MONDO:0013443", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013443", "name": "Seckel syndrome type 5", "description": "" }, { "id": "MIM:613823", "resource": "MIM", "url": "https://www.omim.org/entry/613823", "name": "Seckel syndrome 5", "description": "Seckel syndrome 5" } ], "evidence": [ { "id": "613823", "database": "MIM", "url": "https://www.omim.org/entry/613823" } ] }, { "disease_id": "DOID:0070292", "recommended_name": { "id": "DOID:0070292", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070292", "name": "primary autosomal recessive microcephaly 9", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21." }, "synonyms": [ { "id": "DOID:0070292", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070292", "name": "MCPH9", "description": "" }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "microcephaly 9, primary, autosomal recessive", "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene." }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "CEP152 autosomal recessive primary microcephaly", "description": "" }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "autosomal recessive primary microcephaly caused by mutation in CEP152", "description": "" }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "microcephaly 9, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "MCPH9", "description": "" }, { "id": "MIM:614852", "resource": "MIM", "url": "https://www.omim.org/entry/614852", "name": "Microcephaly 9, primary, autosomal recessive", "description": "Microcephaly 9, primary, autosomal recessive" } ], "evidence": [ { "id": "614852", "database": "MIM", "url": "https://www.omim.org/entry/614852" } ] } ], "snv": [ { "evidence": [ { "id": "O94986", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94986" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1061, "end_pos": 1061, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HIS->NIS).", "chr_id": "15", "chr_pos": "48756067", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H1061", "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": "rs762089839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762089839" }, { "id": "rs762089839", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762089839" }, { "id": "rs762089839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762089839" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1063, "end_pos": 1063, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "15", "chr_pos": "48756061", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94986", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94986" }, { "id": "rs777016485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777016485" }, { "id": "rs777016485", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777016485" }, { "id": "rs777016485", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777016485" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1065, "end_pos": 1065, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->C).", "chr_id": "15", "chr_pos": "48756054", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S1065", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs61745204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61745204" }, { "id": "rs61745204", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61745204" }, { "id": "rs61745204", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61745204" }, { "id": "rs61745204", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61745204#frequency_tab" }, { "id": "rs61745204", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61745204" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1119, "end_pos": 1119, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMA->NMT).", "chr_id": "15", "chr_pos": "48752460", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000998", "site_lbl": "A1119", "disease": [ { "disease_id": "DOID:0070292", "recommended_name": { "id": "DOID:0070292", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070292", "name": "primary autosomal recessive microcephaly 9", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21." }, "synonyms": [ { "id": "DOID:0070292", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070292", "name": "MCPH9", "description": "" }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "microcephaly 9, primary, autosomal recessive", "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene." }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "CEP152 autosomal recessive primary microcephaly", "description": "" }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "autosomal recessive primary microcephaly caused by mutation in CEP152", "description": "" }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "microcephaly 9, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "MCPH9", "description": "" }, { "id": "MIM:614852", 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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "15", "chr_pos": "48738358", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200957146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200957146" }, { "id": "rs200957146", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200957146" }, { "id": "rs200957146", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200957146" }, { "id": "rs200957146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200957146#frequency_tab" }, { "id": "rs200957146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200957146" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 215, "end_pos": 215, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SDT->NDT).", "chr_id": "15", "chr_pos": "48796057", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.001198", "site_lbl": "S215", "disease": [ { "disease_id": "DOID:0070292", "recommended_name": { "id": "DOID:0070292", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070292", "name": "primary autosomal recessive microcephaly 9", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21." }, "synonyms": [ { "id": "DOID:0070292", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070292", "name": "MCPH9", "description": "" }, { "id": "MONDO:0013923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013923", "name": "microcephaly 9, primary, autosomal recessive", "description": "Any 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94986", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94986" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O94986", "url": 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "common_name": "Human" } ], "gene": [ { "name": "CEP152", "url": "https://www.uniprot.org/uniprot/O94986", "locus": { "chromosome": "15", "start_pos": 48712928, "end_pos": 48811146, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000103995", "url": "https://www.ensembl.org/id/ENSG00000103995" } ] } } ], "crossref": [ { "id": "ENSG00000103995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103995", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O94986", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94986", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CEP152", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP152", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "22995", "url": "https://www.ncbi.nlm.nih.gov/gene/22995", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29298", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29298", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O94986", "url": "https://www.ebi.ac.uk/intact/interactors/id:O94986*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "hsa:22995", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22995", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "613529", "url": "http://www.omim.org/entry/613529", "database": "MIM", "categories": [ "Other" ] }, { "id": "613823", "url": "http://www.omim.org/entry/613823", "database": "MIM", "categories": [ "Other" ] }, { "id": "614852", "url": "http://www.omim.org/entry/614852", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O94986", "url": "https://www.nextprot.org/entry/NX_O94986", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O94986", "url": "https://oglcnac.org/atlas/detail/O94986", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O94986", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94986", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "REWTVQE", "url": "https://omabrowser.org/oma/group/REWTVQE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3025597at2759", "url": "http://www.orthodb.org/?query=3025597at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10337", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10337", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10337:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10337:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4N7V", "url": "https://www.rcsb.org/structure/4N7V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CSU", "url": "https://www.rcsb.org/structure/6CSU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CSV", "url": "https://www.rcsb.org/structure/6CSV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "O94986", "url": "https://pharos.nih.gov/targets/O94986", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O94986", "url": "http://purl.obolibrary.org/obo/PR_O94986", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380284", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380284", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94986-1", "url": "https://www.uniprot.org/uniprot/O94986-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94986-2", "url": "https://www.uniprot.org/uniprot/O94986-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94986-3", "url": "https://www.uniprot.org/uniprot/O94986-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O94986-4", "url": "https://www.uniprot.org/uniprot/O94986-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSLDFGSVALPVQNEDEEYDEEDYEREKELQQLLTDLPHDMLDDDLSSPELQYSDCSEDGTDGQPHHPEQLEMSWNEQMLPKSQSVNGYNEIQSLYAGEKCGNVWEENRSKTEDRHPVYHPEEGGDEGGSGYSPPSKCEQTDLYHLPENFRPYTNGQKQEFNNQATNVIKFSDPQWNHFQGPSCQGLEPYNKVTYKPYQSSAQNNGSPAQEITGSDTFEGLQQQFLGANENSAENMQIIQLQVLNKAKERQLENLIEKLNESERQIRYLNHQLVIIKDEKDGLTLSLRESQKLFQNGKEREIQLEAQIKALETQIQALKVNEEQMIKKSRTTEMALESLKQQLVDLHHSESLQRAREQHESIVMGLTKKYEEQVLSLQKNLDATVTALKEQEDICSRLKDHVKQLERNQEAIKLEKTEIINKLTRSLEESQKQCAHLLQSGSVQEVAQLQFQLQQAQKAHAMSANMNKALQEELTELKDEISLYESAAKLGIHPSDSEGELNIELTESYVDLGIKKVNWKKSKVTSIVQEEDPNEELSKDEFILKLKAEVQRLLGSNSMKRHLVSQLQNDLKDCHKKIEDLHQVKKDEKSIEVETKTDTSEKPKNQLWPESSTSDVVRDDILLLKNEIQVLQQQNQELKETEGKLRNTNQDLCNQMRQMVQDFDHDKQEAVDRCERTYQQHHEAMKTQIRESLLAKHALEKQQLFEAYERTHLQLRSELDKLNKEVTAVQECYLEVCREKDNLELTLRKTTEKEQQTQEKIKEKLIQQLEKEWQSKLDQTIKAMKKKTLDCGSQTDQVTTSDVISKKEMAIMIEEQKCTIQQNLEQEKDIAIKGAMKKLEIELELKHCENITKQVEIAVQNAHQRWLGELPELAEYQALVKAEQKKWEEQHEVSVNKRISFAVSEAKEKWKSELENMRKNILPGKELEEKIHSLQKELELKNEEVPVVIRAELAKARSEWNKEKQEEIHRIQEQNEQDYRQFLDDHRNKINEVLAAAKEDFMKQKTELLLQKETELQTCLDQSRREWTMQEAKRIQLEIYQYEEDILTVLGVLLSDTQKEHISDSEDKQLLEIMSTCSSKWMSVQYFEKLKGCIQKAFQDTLPLLVENADPEWKKRNMAELSKDSASQGTGQGDPGPAAGHHAQPLALQATEAEADKKKVLEIKDLCCGHCFQELEKAKQECQDLKGKLEKCCRHLQHLERKHKAVVEKIGEENNKVVEELIEENNDMKNKLEELQTLCKTPPRSLSAGAIENACLPCSGGALEELRGQYIKAVKKIKCDMLRYIQESKERAAEMVKAEVLRERQETARKMRKYYLICLQQILQDDGKEGAEKKIMNAASKLATMAKLLETPISSKSQSKTTQSALPLTSEMLIAVKKSKRNDVNQKIPCCIESKSNSVNTITRTLCEQAPKRRAACNLQRLLENSEHQSIKHVGSKETHLEFQFGDGSCKHLNSLPRNVSPEFVPCEGEGGFGLHKKKDLLSDNGSESLPHSAAYPFLGTLGNKPSPRCTPGPSESGCMHITFRDSNERLGLKVYKCNPLMESENAASEKSQGLDVQEPPVKDGGDLSDCLGWPSSSATLSFDSREASFVHGRPQGTLEIPSESVKSKQFSPSGYLSDTEESNMICQTMKCQRYQTPYLSEETTYLEPGKISVNCGHPSRHKADRLKSDFKKLSSTLPSSVCQQPSRKLIVPLSSQQDSGFDSPFVNLD", "length": 1710, "header": "sp|O94986-4|CE152_HUMAN Isoform 4 of Centrosomal protein of 152 kDa OS=Homo sapiens OX=9606 GN=CEP152 PE=1 SV=4 CANONICAL=O94986-4" }, "isoforms": [ { "isoform_ac": "O94986-1", "url": "", "sequence": { "sequence": "MSLDFGSVALPVQNEDEEYDEEDYEREKELQQLLTDLPHDMLDDDLSSPELQYSDCSEDGTDGQPHHPEQLEMSWNEQMLPKSQSVNGPSCQGLEPYNKVTYKPYQSSAQNNGSPAQEITGSDTFEGLQQQFLGANENSAENMQIIQLQVLNKAKERQLENLIEKLNESERQIRYLNHQLVIIKDEKDGLTLSLRESQKLFQNGKEREIQLEAQIKALETQIQALKVNEEQMIKKSRTTEMALESLKQQLVDLHHSESLQRAREQHESIVMGLTKKYEEQVLSLQKNLDATVTALKEQEDICSRLKDHVKQLERNQEAIKLEKTEIINKLTRSLEESQKQCAHLLQSGSVQEVAQLQFQLQQAQKAHAMSANMNKALQEELTELKDEISLYESAAKLGIHPSDSEGELNIELTESYVDLGIKKVNWKKSKVTSIVQEEDPNEELSKDEFILKLKAEVQRLLGSNSMKRHLVSQLQNDLKDCHKKIEDLHQVKKDEKSIEVETKTDTSEKPKNQLWPESSTSDVVRDDILLLKNEIQVLQQQNQELKETEGKLRNTNQDLCNQMRQMVQDFDHDKQEAVDRCERTYQQHHEAMKTQIRESLLAKHALEKQQLFEAYERTHLQLRSELDKLNKEVTAVQECYLEVCREKDNLELTLRKTTEKEQQTQEKIKEKLIQQLEKEWQSKLDQTIKAMKKKTLDCGSQTDQVTTSDVISKKEMAIMIEEQKCTIQQNLEQEKDIAIKGAMKKLEIELELKHCENITKQVEIAVQNAHQRWLGELPELAEYQALVKAEQKKWEEQHEVSVNKRISFAVSEAKEKWKSELENMRKNILPGKELEEKIHSLQKELELKNEEVPVVIRAELAKARSEWNKEKQEEIHRIQEQNEQDYRQFLDDHRNKINEVLAAAKEDFMKQKTELLLQKETELQTCLDQSRREWTMQEAKRIQLEIYQYEEDILTVLGVLLSDTQKEHISDSEDKQLLEIMSTCSSKWMSVQYFEKLKGCIQKAFQDTLPLLVENADPEWKKRNMAELSKDSASQGTGQGDPGPAAGHHAQPLALQATEAEADKKKVLEIKDLCCGHCFQELEKAKQECQDLKGKLEKCCRHLQHLERKHKAVVEKIGEENNKVVEELIEENNDMKNKLEELQTLCKTPPRSLSAGAIENACLPCSGGALEELRGQYIKAVKKIKCDMLRYIQESKERAAEMVKAEVLRERQETARKMRKYYLICLQQILQDDGKEGAEKKIMNAASKLATMAKLLETPISSKSQSKTTQSGMSK", "length": 1275, "header": "sp|O94986-1|CE152_HUMAN Isoform 1 of Centrosomal protein of 152 kDa OS=Homo sapiens OX=9606 GN=CEP152 PE=1 SV=4 CANONICAL=O94986-4" }, "locus": { "chromosome": "15", "start_pos": 48805649, "end_pos": 48741590, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000325747.9", "url": "https://www.ensembl.org/id/ENST00000325747.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000321000.5", "url": "https://www.ensembl.org/id/ENSP00000321000.5" } ] } }, { "isoform_ac": "O94986-2", "url": "", "sequence": { "sequence": "MSLDFGSVALPVQNEDEEYDEEDYEREKELQQLLTDLPHDMLDDDLSSPELQYSDCSEDGTDGQPHHPEQLEMSWNEQMLPKSQSVNGYNEIQSLYAGEKCGNVWEENRSKTEDRHPVYHPEEGGDEGGSGYSPPSKCEQTDLYHLPENFRPYTNGQKQEFNNQATNVIKFSDPQWNHFQGPSCQGLEPYNKVTYKPYQSSAQNNGSPAQEITGSDTFEGLQQQFLGANENSAENMQIIQLQVLNKAKERQLENLIEKLNESERQIRYLNHQLVIIKDEKDGLTLSLRESQKLFQNGKEREIQLEAQIKALETQIQALKVNEEQMIKKSRTTEMALESLKQQLVDLHHSESLQRAREQHESIVMGLTKKYEEQVLSLQKNLDATVTALKEQEDICSRLKDHVKQLERNQEAIKLEKTEIINKLTRSLEESQKQCAHLLQSGSVQEVAQLQFQLQQAQKAHAMSANMNKALQEELTELKDEISLYESAAKLGIHPSDSEGELNIELTESYVDLGIKKVNWKKSKVTSIVQEEDPNEELSKDEFILKLKAEVQRLLGSNSMKRHLVSQLQNDLKDCHKKIEDLHQVKKDEKSIEVETKTDTSEKPKNQLWPESSTSDVVRDDILLLKNEIQVLQQQNQELKETEGKLRNTNQDLCNQMRQMVQDFDHDKQEAVDRCERTYQQHHEAMKTQIRESLLAKHALEKQQLFEAYERTHLQLRSELDKLNKEVTAVQECYLEVCREKDNLELTLRKTTEKEQQTQEKIKEKLIQQLEKEWQSKLDQTIKAMKKKTLDCGSQTDQVTTSDVISKKEMAIMIEEQKCTIQQNLEQEKDIAIKGAMKKLEIELELKHCENITKQVEIAVQNAHQRWLGELPELAEYQALVKAEQKKWEEQHEVSVNKRISFAVSEAKEKWKSELENMRKNILPGKELEEKIHSLQKELELKNEEVPVVIRAELAKARSEWNKEKQEEIHRIQEQNEQDYRQFLDDHRNKINEVLAAAKEDFMKQKTELLLQKETELQTCLDQSRREWTMQEAKRIQLEIYQYEEDILTVLGVLLSDTQKEHISDSEDKQLLEIMSTCSSKWMSVQYFEKLKGCIQKAFQDTLPLLVENADPEWKKRNMAELSKDSASQGTGQGDPGPAAGHHAQPLALQATEAEADKKKVLEIKDLCCGHCFQELEKAKQECQDLKGKLEKCCRHLQHLERKHKAVVEKIGEENNKVVEELIEENNDMKNKLEELQTLCKTPPRSLSAGAIENACLPCSGGALEELRGQYIKAVKKIKCDMLRYIQESKERAAEMVKAEVLRERQETARKMRKYYLICLQQILQDDGKEGAEKKIMNAASKLATMAKLLETPISSKSQSKTTQSGMSK", "length": 1368, "header": "sp|O94986-2|CE152_HUMAN Isoform 2 of Centrosomal protein of 152 kDa OS=Homo sapiens OX=9606 GN=CEP152 PE=1 SV=4 CANONICAL=O94986-4" }, "locus": {} }, { "isoform_ac": "O94986-3", "url": "", "sequence": { "sequence": "MSLDFGSVALPVQNEDEEYDEEDYEREKELQQLLTDLPHDMLDDDLSSPELQYSDCSEDGTDGQPHHPEQLEMSWNEQMLPKSQSVNGYNEIQSLYAGEKCGNVWEENRSKTEDRHPVYHPEEGGDEGGSGYSPPSKCEQTDLYHLPENFRPYTNGQKQEFNNQATNVIKFSDPQWNHFQGPSCQGLEPYNKVTYKPYQSSAQNNGSPAQEITGSDTFEGLQQQFLGANENSAENMQIIQLQVLNKAKERQLENLIEKLNESERQIRYLNHQLVIIKDEKDGLTLSLRESQKLFQNGKEREIQLEAQIKALETQIQALKVNEEQMIKKSRTTEMALESLKQQLVDLHHSESLQRAREQHESIVMGLTKKYEEQVLSLQKNLDATVTALKEQEDICSRLKDHVKQLERNQEAIKLEKTEIINKLTRSLEESQKQCAHLLQSGSVQEVAQLQFQLQQAQKAHAMSANMNKALQEELTELKDEISLYESAAKLGIHPSDSEGELNIELTESYVDLGIKKVNWKKSKVTSIVQEEDPNEELSKDEFILKLKAEVQRLLGSNSMKRHLVSQLQNDLKDCHKKIEDLHQVKKDEKSIEVETKTDTSEKPKNQLWPESSTSDVVRDDILLLKNEIQVLQQQNQELKETEGKLRNTNQDLCNQMRQMVQDFDHDKQEAVDRCERTYQQHHEAMKTQIRESLLAKHALEKQQLFEAYERTHLQLRSELDKLNKEVTAVQECYLEVCREKDNLELTLRKTTEKEQQTQEKIKEKLIQQLEKEWQSKLDQTIKAMKKKTLDCGSQTDQVTTSDVISKKEMAIMIEEQKCTIQQNLEQEKDIAIKGAMKKLEIELELKHCENITKQVEIAVQNAHQRWLGELPELAEYQALVKAEQKKWEEQHEVSVNKRISFAVSEAKEKWKSELENMRKNILPGKELEEKIHSLQKELELKNEEVPVVIRAELAKARSEWNKEKQEEIHRIQEQNEQDYRQFLDDHRNKINEVLAAAKEDFMKQKTELLLQKETELQTCLDQSRREWTMQEAKRIQLEIYQYEEDILTVLGVLLSDTQKEHISDSEDKQLLEIMSTCSSKWMSVQYFEKLKGCIQKAFQDTLPLLVENADPEWKKRNMAELSKDSASQGTGQGDPGPAAGHHAQPLALQATEAEAEENNKVVEELIEENNDMKNKLEELQTLCKTPPRSLSAGAIENACLPCSGGALEELRGQYIKAVKKIKCDMLRYIQESKERAAEMVKAEVLRERQETARKMRKYYLICLQQILQDDGKEGAEKKIMNAASKLATMAKLLETPISSKSQSKTTQSALPLTSEMLIAVKKSKRNDVNQKIPCCIESKSNSVNTITRTLCEQAPKRRAACNLQRLLENSEHQSIKHVGSKETHLEFQFGDGSCKHLNSLPRNVSPEFVPCEGEGGFGLHKKKDLLSDNGSESLPHSAAYPFLGTLGNKPSPRCTPGPSESGCMHITFRDSNERLGLKVYKCNPLMESENAASEKSQGLDVQEPPVKDGGDLSDCLGWPSSSATLSFDSREASFVHGRPQGTLEIPSESVKSKQFSPSGYLSDTEESNMICQTMKCQRYQTPYLSEETTYLEPGKISVNCGHPSRHKADRLKSDFKKLSSTLPSSVCQQPSRKLIVPLSSQQDSGFDSPFVNLD", "length": 1654, "header": "sp|O94986-3|CE152_HUMAN Isoform 3 of Centrosomal protein of 152 kDa OS=Homo sapiens OX=9606 GN=CEP152 PE=1 SV=4 CANONICAL=O94986-4" }, "locus": { "chromosome": "15", "start_pos": 48805649, "end_pos": 48738252, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399334.7", "url": "https://www.ensembl.org/id/ENST00000399334.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000382271.3", "url": "https://www.ensembl.org/id/ENSP00000382271.3" } ] } }, { "isoform_ac": "O94986-4", "url": "", "sequence": { "sequence": 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"length": 1710, "header": "sp|O94986-4|CE152_HUMAN Isoform 4 of Centrosomal protein of 152 kDa OS=Homo sapiens OX=9606 GN=CEP152 PE=1 SV=4 CANONICAL=O94986-4" }, "locus": { "chromosome": "15", "start_pos": 48805649, "end_pos": 48738252, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380950.7", "url": "https://www.ensembl.org/id/ENST00000380950.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000370337.2", "url": "https://www.ensembl.org/id/ENSP00000370337.2" } ] } } ], "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": 1028, "start_aa": "Thr", "end_pos": 1028, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1028", "evidence": [ { "id": "O94986", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94986" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O94986", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94986" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1063, "start_aa": "Ser", "end_pos": 1063, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1063", "evidence": [ { "id": "O94986", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94986" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O94986", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94986" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1065, "start_aa": "Ser", "end_pos": 1065, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1065", "evidence": [ { "id": "O94986", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94986" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O94986", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O94986" } ] } ], "phosphorylation": [ { "start_pos": 1241, "end_pos": 1241, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O94986", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94986" } ], "site_lbl": "Thr1241" }, { "start_pos": 1527, "end_pos": 1527, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94986", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94986" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Ser1527" }, { "start_pos": 1585, "end_pos": 1585, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94986", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94986" }, { "database": "PubMed", "id": "27920218", "url": "" } ], "site_lbl": "Ser1585" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Mayor T, Stierhof YD, Tanaka K, Fry AM, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380284", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380284" } ], "reference": [ { "type": "PubMed", "id": "11076968", "url": "https://glygen.org/publication/PubMed/11076968" } ] }, { "title": "Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules.", "journal": "Journal of cell science", "date": "2002", "authors": "Haren L, Merdes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "11956313", "url": "https://glygen.org/publication/PubMed/11956313" } ] }, { "title": "Phosphorylation of threonine 210 and the role of serine 137 in the regulation of mammalian polo-like kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Jang YJ, Ma S, Terada Y, Erikson RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12207013", "url": "https://glygen.org/publication/PubMed/12207013" } ] }, { "title": "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "12221128", "url": "https://glygen.org/publication/PubMed/12221128" } ] }, { "title": "Nuclear translocation of plk1 mediated by its bipartite nuclear localization signal.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Taniguchi E, Toyoshima-Morimoto F, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12364337", "url": "https://glygen.org/publication/PubMed/12364337" } ] }, { "title": "Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation.", "journal": "Developmental cell", "date": "2003", "authors": "Casenghi M, Meraldi P, Weinhart U, Duncan PI, Korner R, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259" } ], "reference": [ { "type": "PubMed", "id": "12852856", "url": "https://glygen.org/publication/PubMed/12852856" } ] }, { "title": "Aurora-A and an interacting activator, the LIM protein Ajuba, are required for mitotic commitment in human cells.", "journal": "Cell", "date": "2003", "authors": "Hirota T, Kunitoku N, Sasayama T, Marumoto T, Zhang D, Nitta M, Hatakeyama K, Saya H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "13678582", "url": "https://glygen.org/publication/PubMed/13678582" } ] }, { "title": "Structural basis of Aurora-A activation by TPX2 at the mitotic spindle.", "journal": "Molecular cell", "date": "2003", "authors": "Bayliss R, Sardon T, Vernos I, Conti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "14580337", "url": "https://glygen.org/publication/PubMed/14580337" } ] }, { "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": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "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": "Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.", "journal": "Genes & development", "date": "2006", "authors": "Reiter JF, Skarnes WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "16357211", "url": "https://glygen.org/publication/PubMed/16357211" } ] }, { "title": "The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation.", "journal": "EMBO reports", "date": "2006", "authors": "Petretti C, Savoian M, Montembault E, Glover DM, Prigent C, Giet R", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "16462731", "url": "https://glygen.org/publication/PubMed/16462731" } ] }, { "title": "Mitotic activation of the kinase Aurora-A requires its binding partner Bora.", "journal": "Developmental cell", "date": "2006", "authors": "Hutterer A, Berdnik D, Wirtz-Peitz F, Zigman M, Schleiffer A, Knoblich JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "16890155", "url": "https://glygen.org/publication/PubMed/16890155" } ] }, { "title": "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.", "journal": "Cell", "date": "2007", "authors": "Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "title": "Functional dissection of Rab GTPases involved in primary cilium formation.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Yoshimura S, Egerer J, Fuchs E, Haas AK, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17646400", "url": "https://glygen.org/publication/PubMed/17646400" } ] }, { "title": "Cep97 and CP110 suppress a cilia assembly program.", "journal": "Cell", "date": "2007", "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": "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": "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": "Myosin phosphatase-targeting subunit 1 regulates mitosis by antagonizing polo-like kinase 1.", "journal": "Developmental cell", "date": "2008", "authors": "Yamashiro S, Yamakita Y, Totsukawa G, Goto H, Kaibuchi K, Ito M, Hartshorne DJ, Matsumura F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18477460", "url": "https://glygen.org/publication/PubMed/18477460" } ] }, { "title": "Plk1 regulates mitotic Aurora A function through betaTrCP-dependent degradation of hBora.", "journal": "Chromosoma", "date": "2008", "authors": "Chan EH, Santamaria A, Sillje HH, 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": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "18615013", "url": "https://glygen.org/publication/PubMed/18615013" } ] }, { "title": "CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.", "journal": "Developmental cell", "date": "2008", "authors": "Tsang WY, Bossard C, Khanna H, Peranen J, Swaroop A, Malhotra V, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": 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Gonczy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "23921553", "url": "https://glygen.org/publication/PubMed/23921553" } ] }, { "title": "CP110 and its network of partners coordinately regulate cilia assembly.", "journal": "Cilia", "date": "2013", "authors": "Tsang WY, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24053599", "url": "https://glygen.org/publication/PubMed/24053599" } ] }, { "title": "Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.", "journal": "Nature", "date": "2013", "authors": "Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24089205", "url": "https://glygen.org/publication/PubMed/24089205" } ] }, { "title": "Transition fibre protein FBF1 is required for the ciliary entry of assembled intraflagellar transport complexes.", "journal": "Nature communications", "date": "2013", "authors": "Wei Q, Xu Q, Zhang Y, Li Y, Zhang Q, Hu Z, Harris PC, Torres VE, Ling K, Hu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24231678", "url": "https://glygen.org/publication/PubMed/24231678" } ] }, { "title": "C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Ye X, Zeng H, Ning G, Reiter JF, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24469809", "url": "https://glygen.org/publication/PubMed/24469809" } ] }, { "title": "Proximity interactions among centrosome components identify regulators of centriole duplication.", "journal": "Curr. Biol.", "date": "2014", "authors": "Firat-Karalar EN, Rauniyar N, Yates JR 3rd, Stearns T", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "reference": [ { "type": "PubMed", "id": "24613305", "url": "https://glygen.org/publication/PubMed/24613305" } ] }, { "title": "Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Cajanek L, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24982133", "url": "https://glygen.org/publication/PubMed/24982133" } ] }, { "title": "Molecular basis for unidirectional scaffold switching of human Plk4 in centriole biogenesis.", "journal": "Nature structural & molecular biology", "date": "2014", "authors": "Park SY, Park JE, Kim TS, Kim JH, Kwak MJ, Ku B, Tian L, Murugan RN, Ahn M, Komiya S, Hojo H, Kim NH, Kim BY, Bang JK, Erikson RL, Lee KW, Kim SJ, Oh BH, Yang W, Lee KS", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "reference": [ { "type": "PubMed", "id": "24997597", "url": "https://glygen.org/publication/PubMed/24997597" } ] }, { "title": "Centriole structure.", "journal": "Philosophical transactions of the Royal Society of London. Series B, Biological sciences", "date": "2014", "authors": "Winey M, O'Toole E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "25047611", "url": "https://glygen.org/publication/PubMed/25047611" } ] }, { "title": "Chibby promotes ciliary vesicle formation and basal body docking during airway cell differentiation.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Burke MC, Li FQ, Cyge B, Arashiro T, Brechbuhl HM, Chen X, Siller SS, Weiss MA, O'Connell CB, Love D, Westlake CJ, Reynolds SD, Kuriyama R, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "25313408", "url": "https://glygen.org/publication/PubMed/25313408" } ] }, { "title": "Microtubule nucleation in mitosis by a RanGTP-dependent protein complex.", "journal": "Current biology : CB", "date": "2015", "authors": "Scrofani J, Sardon T, Meunier S, Vernos I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "25532896", "url": "https://glygen.org/publication/PubMed/25532896" } ] }, { "title": "MDM1 is a microtubule-binding protein that negatively regulates centriole duplication.", "journal": "Mol. Biol. Cell", "date": "2015", "authors": "Van de Mark D, Kong D, Loncarek J, Stearns T", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "reference": [ { "type": "PubMed", "id": "26337392", "url": "https://glygen.org/publication/PubMed/26337392" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94986", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94986" }, { "database": "O-GlcNAc Atlas", "id": "O94986", "url": "https://oglcnac.org/atlas/detail/O94986" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94986", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94986" }, { "database": "O-GlcNAc Atlas", "id": "O94986", "url": "https://oglcnac.org/atlas/detail/O94986" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Polo-like kinase 4 maintains centriolar satellite integrity by phosphorylation of centrosomal protein 131 (CEP131).", "journal": "J. Biol. Chem.", "date": "2019", "authors": "Denu RA, Sass MM, Johnson JM, Potts GK, Choudhary A, Coon JJ, Burkard ME", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "reference": [ { "type": "PubMed", "id": "30804208", "url": "https://glygen.org/publication/PubMed/30804208" } ] }, { "title": "CEP44 ensures the formation of bona fide centriole wall, a requirement for the centriole-to-centrosome conversion.", "journal": "Nat. Commun.", "date": "2020", "authors": "Atorino ES, Hata S, Funaya C, Neuner A, Schiebel E", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "reference": [ { "type": "PubMed", "id": "32060285", "url": "https://glygen.org/publication/PubMed/32060285" } ] }, { "title": "Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication.", "journal": "Molecular and cellular biology", "date": "2020", "authors": "Wei Z, Kim TS, Ahn JI, Meng L, Chen Y, Ryu EK, Ku B, Zhou M, Kim SJ, Bang JK, van Deursen JM, Park JE, Lee KS", "evidence": [ { "database": "RefSeq", "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" } ], "reference": [ { "type": "PubMed", "id": "32152252", "url": "https://glygen.org/publication/PubMed/32152252" } ] }, { "title": "Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring complex influences expression of CEP genes and favors tumorigenesis in glioma.", "journal": "Future oncology (London, England)", "date": "2021", "authors": "Mahjabeen I, Maqsood Y, Abbasi R, Ahmed MW, Kayani MA", "evidence": [ { "database": "RefSeq", "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927" } ], "reference": [ { "type": "PubMed", "id": "34156311", "url": "https://glygen.org/publication/PubMed/34156311" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94986", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94986" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Centrosomal organization of Cep152 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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": "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" } ] } ], "pathway": [ { "id": "hsa:22995", "name": "", "url": 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"pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" }, { "name": "pericentriolar material", "id": "GO:0000242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000242", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" }, { "name": "deuterosome", "id": "GO:0098536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098536", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" }, { "name": "procentriole replication complex", "id": "GO:0120099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120099", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" }, { "name": "procentriole", "id": "GO:0120098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120098", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" }, { "name": "centrosome duplication", "id": "GO:0051298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051298", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" }, { "name": "centriole replication", "id": "GO:0007099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007099", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" }, { "name": "de novo centriole assembly involved in multi-ciliated epithelial cell differentiation", "id": "GO:0098535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098535", "evidence": [ { "database": "UniProtKB", "id": "O94986", "url": "https://www.uniprot.org/uniprot/O94986" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 108, "end_pos": 110, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1459, "end_pos": 1461, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1485, "end_pos": 1487, "annotation": "n_glycosylation_sequon" }, { "start_pos": 205, "end_pos": 207, "annotation": "n_glycosylation_sequon" }, { "start_pos": 260, "end_pos": 262, "annotation": "n_glycosylation_sequon" }, { 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