{ "uniprot_canonical_ac": "A6NCL1-1", "ptm_annotation": [ { "annotation": "Highly phosphorylated by CDK2; stimulates initiation of DNA replication.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCL1", "id": "A6NCL1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A6NCL1-1|GEMC1_HUMAN Isoform 1 of Geminin coiled-coil domain-containing protein 1 OS=Homo sapiens OX=9606 GN=GMNC PE=1 SV=2 CANONICAL=A6NCL1-1", "length": 334, "sequence": "MNTILPCQDQYFVGGQSYNCPYSTTTSESSVDVSTETWVSFWAAGLLDNRELQQAPQAQESFSDSNFPLPDLCSWEEAQLSSQLYRNKQLQDTLVQKEEELARLHEENNHLRQYLNSALVKCLEEKAKKLLSSDEFSKAYGKFRKGKRKSKEQRYSPAEIPHPKNAKRNLSSEFANCEEQAGPPVDPWVLQTLGLKDLDTIDDTSSANYSALASHPRRVASTFSQFPDDAVDYKNIPREDMPIDYRGDRTTPLHSTATHGEDFHILSQLSNPPVGLKTLPYYTAHVSPNKTEMAFSTSLSPHCNVKTHSFHQGQAFVRRDEEGGWKFTWVPKQS" }, "uniprot_id": "GEMC1_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "man", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCL1", "id": "A6NCL1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26527144", "type": [ "PubMed" ], "id": "26527144" } ], "title": "The structure of the GemC1 coiled coil and its interaction with the Geminin family of coiled-coil proteins.", "journal": "Acta crystallographica. Section D, Biological crystallography", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140158.1", "id": "NP_001140158.1", "database": "RefSeq" } ], "authors": "Caillat C, Fish A, Pefani DE, Taraviras S, Lygerou Z, Perrakis A", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20855966", "type": [ "PubMed" ], "id": "20855966" } ], "title": "GEMC1 is a novel TopBP1-interacting protein involved in chromosomal DNA replication.", "journal": "Cell cycle (Georgetown, Tex.)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140158.1", "id": "NP_001140158.1", "database": "RefSeq" } ], "authors": "Piergiovanni G, Costanzo V", "date": "2010" } ], "uniprot_ac": "A6NCL1", "site_annotation": [ { "end_pos": 210, "annotation": "n_glycosylation_sequon", "start_pos": 208 }, { "end_pos": 171, "annotation": "n_glycosylation_sequon", "start_pos": 169 }, { "end_pos": 291, "annotation": "n_glycosylation_sequon", "start_pos": 289 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6NCL1#A6NCL1-1", "isoform_ac": "A6NCL1-1", "locus": { "end_pos": 190855298, "start_pos": 190862615, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000442080", "id": "ENST00000442080", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000406164", "id": "ENSP00000406164", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NCL1-1|GEMC1_HUMAN Isoform 1 of Geminin coiled-coil domain-containing protein 1 OS=Homo sapiens OX=9606 GN=GMNC PE=1 SV=2 CANONICAL=A6NCL1-1", "length": 334, "sequence": "MNTILPCQDQYFVGGQSYNCPYSTTTSESSVDVSTETWVSFWAAGLLDNRELQQAPQAQESFSDSNFPLPDLCSWEEAQLSSQLYRNKQLQDTLVQKEEELARLHEENNHLRQYLNSALVKCLEEKAKKLLSSDEFSKAYGKFRKGKRKSKEQRYSPAEIPHPKNAKRNLSSEFANCEEQAGPPVDPWVLQTLGLKDLDTIDDTSSANYSALASHPRRVASTFSQFPDDAVDYKNIPREDMPIDYRGDRTTPLHSTATHGEDFHILSQLSNPPVGLKTLPYYTAHVSPNKTEMAFSTSLSPHCNVKTHSFHQGQAFVRRDEEGGWKFTWVPKQS" } }, { "url": "https://www.uniprot.org/uniprot/A6NCL1#G5E9I9-1", "isoform_ac": "G5E9I9-1", "locus": { "end_pos": 190859809, "start_pos": 190862615, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000456552", "id": "ENST00000456552", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000396337", "id": "ENSP00000396337", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|G5E9I9-1|GEMC1_HUMAN Computationally mapped isoform of Geminin coiled-coil domain-containing protein 1 OS=Homo sapiens OX=9606 GN=GMNC PE=1 SV=1 CANONICAL=A6NCL1-1", "length": 63, "sequence": "MNTILPCQDQYFVGGQSYNCPYSTTTSESSVDVSTETWVSFWAAGLLDNRELQQAPQAQVSTI" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:647309", "resource": "KEGG Pathway", "id": "hsa:647309", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A6NCL1#function", "annotation": "Regulator of DNA replication. Promotes initiation of chromosomal DNA replication by mediating TOPBP1- and CDK2-dependent recruitment of CDC45L onto replication origins (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCL1#function", "id": "A6NCL1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140158.1", "annotation": "The crystal structure of a GemC1 coiled-coil domain variant engineered for better solubility was determined to 2.2 A resolution.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140158.1", "id": "NP_001140158.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q3URY2-1", "protein_name": "Geminin coiled-coil domain-containing protein 1", "sequence": { "length": 333, "sequence": "MNSILPCQDQYFVGGQSYNCPYSTTTSESGVDVSKETWVSFWAAGLLDNTELQQAPQVLESPSELSFPVLDSCSWEEAQLSSQLYRNKQLQDTLLQKEEELARLHEENNHLRQYLNSTLVKRLEEKAKKLLSSDEFSKVFGKLRKEKRKPKEHRHSPAEIPQFKTAKRNLSTEFSNCEEQPGPHVDPWVLQTLGLKDLNTIDDTLPANYSATTSHPRAVPSISSLFVHDANGYANVPRDLHLDYVGQGTHGSHTTSIHQEDCHSFPRLSNPPVRVQTLPYHTADVSPNKTEMAFSTSLSPHCNVKTHSFHQGQAFVRRDEEGGWKFTWVPKQT" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/79940", "id": "79940", "database": "MGI" } ], "common_name": "mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "F1LTU7-1", "protein_name": "Geminin coiled-coil domain-containing", "sequence": { "length": 337, "sequence": "ILQNTILPCQDQYFVGGQSSNCPYSTTTSESGVDVSKETWVSFWAAGLLDNSELQQAPHVLESPSGFSFPVPDSCSWEETELSSQLYRNKQLQDTLLQKEEELARLHEENNHLRQYLNSTLVKRLEEKAKKLLSSDEFSKVFGKLRKEKRKPKEHRHPPTEIPQSKTAKRNLSTEFTNCEQQPGPHVDPWVLQTLGLKDLNTIDDTLPANYSATAVASHLRTVPSTSSQFVHDEVGYANVPRDLHLDYVHQRTHASHTTSTHQDDCFSFPRLSNPPVRVQTLPYHTADVSPNKTEVAFSTSLSPHCNVKTHSFHQGQAFVCRDEEGGWKFTWVPKQT" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A6NCL1/", "id": "A6NCL1", "database": "OMA" } ], "common_name": "rats", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "start_pos": 36, "alt_nt": "G", "chr_id": "3", "ref_nt": "T", "chr_pos": "190578544", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", "id": "A6NCL1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "A", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 36, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "W", "start_pos": 325, "alt_nt": "A", "chr_id": "3", "ref_nt": "C", "chr_pos": "190573115", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", "id": "A6NCL1", "database": "BioMuta" } ], "frequency": "2.6", "sequence_mut": "L", "subjects_tested": "38", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.6%).", "end_pos": 325, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "start_pos": 29, "alt_nt": "G", "chr_id": "3", "ref_nt": "A", "chr_pos": "190578566", "disease": [ { "synonyms": [ { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } }, { "synonyms": [ { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", "id": "A6NCL1", "database": "BioMuta" } ], "frequency": "0.2", 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(2.0%).", "end_pos": 38, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "Q", "start_pos": 57, "alt_nt": "A", "chr_id": "3", "ref_nt": "T", "chr_pos": "190578481", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", "id": "A6NCL1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205835", "id": "ENSG00000205835", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205835", "id": "ENSG00000205835", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205835", "id": "ENSG00000205835", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205835", "id": "ENSG00000205835", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205835", "id": "ENSG00000205835", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205835", "id": "ENSG00000205835", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205835", "id": "ENSG00000205835", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A6NCL1", "name": "GMNC", "locus": { "end_pos": 190852877, "start_pos": 190892429, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000205835", "id": "ENSG00000205835", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A6NCL1", "type": "recommended", "resource": "UniProtKB", "name": "Geminin coiled-coil domain-containing protein 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NCL1", "type": "synonym", "resource": "RefSeq", "name": "geminin coiled-coil domain-containing protein 1" } ] }