{
    "uniprot_canonical_ac": "A6NCL1-1", 
    "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": [], 
    "synonyms": {
        "protein": {
            "refseq": [
                "geminin coiled-coil domain-containing protein 1"
            ], 
            "uniprotkb": [
                "Geminin coiled-coil domain-containing protein 1"
            ]
        }, 
        "gene": {
            "refseq": [
                "GMNC", 
                "GEMC1"
            ], 
            "uniprotkb": [
                "GMNC", 
                "GEMC1"
            ]
        }
    }, 
    "keywords": [], 
    "species": [
        {
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Homo sapiens", 
            "taxid": 9606
        }
    ], 
    "recommendedname": {
        "full": "Geminin coiled-coil domain-containing protein 1."
    }, 
    "publication": [
        {
            "title": "The structure of the GemC1 coiled coil and its interaction with the Geminin family of coiled-coil proteins.", 
            "url": "https://www.ncbi.nlm.nih.gov/pubmed/26527144", 
            "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", 
            "pmid": "26527144"
        }, 
        {
            "title": "GEMC1 is a novel TopBP1-interacting protein involved in chromosomal DNA replication.", 
            "url": "https://www.ncbi.nlm.nih.gov/pubmed/20855966", 
            "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", 
            "pmid": "20855966"
        }
    ], 
    "glycosylation": [], 
    "mutation": [
        {
            "start_pos": 29, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.1", 
            "annotation": "Filters passed (2/5): patient freq. (2.1%); num. of cancers (3).", 
            "sequence_org": "S", 
            "disease": {
                "doid": "2531", 
                "url": "http://disease-ontology.org/term/DOID:2531", 
                "icd10": "", 
                "name": "Hematologic cancer"
            }, 
            "sequence_mut": "P", 
            "subjects_tested": "48", 
            "end_pos": 29, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 29, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.2", 
            "annotation": "Filters passed (1/5): num. of cancers (3).", 
            "sequence_org": "S", 
            "disease": {
                "doid": "3571", 
                "url": "http://disease-ontology.org/term/DOID:3571", 
                "icd10": "", 
                "name": "Liver cancer"
            }, 
            "sequence_mut": "P", 
            "subjects_tested": "412", 
            "end_pos": 29, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 54, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "annotation": "Filters passed (1/5): patient freq. (2.0%).", 
            "sequence_org": "Q", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "K", 
            "subjects_tested": "50", 
            "end_pos": 54, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 38, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "annotation": "Filters passed (1/5): patient freq. (2.0%).", 
            "sequence_org": "W", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "L", 
            "subjects_tested": "50", 
            "end_pos": 38, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 29, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.4", 
            "annotation": "Filters passed (1/5): num. of cancers (3).", 
            "sequence_org": "S", 
            "disease": {
                "doid": "9256", 
                "url": "http://disease-ontology.org/term/DOID:9256", 
                "icd10": "", 
                "name": "Colorectal cancer"
            }, 
            "sequence_mut": "P", 
            "subjects_tested": "254", 
            "end_pos": 29, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 57, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "annotation": "Filters passed (1/5): patient freq. (2.0%).", 
            "sequence_org": "Q", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "L", 
            "subjects_tested": "50", 
            "end_pos": 57, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 36, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "annotation": "Filters passed (1/5): patient freq. (2.0%).", 
            "sequence_org": "E", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "A", 
            "subjects_tested": "50", 
            "end_pos": 36, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 325, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.6", 
            "annotation": "Filters passed (1/5): patient freq. (2.6%).", 
            "sequence_org": "W", 
            "disease": {
                "doid": "1324", 
                "url": "http://disease-ontology.org/term/DOID:1324", 
                "icd10": "", 
                "name": "Lung cancer"
            }, 
            "sequence_mut": "L", 
            "subjects_tested": "38", 
            "end_pos": 325, 
            "type": "Point mutation"
        }
    ], 
    "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/www_bget?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": "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"
                }
            ], 
            "organism": "Rattus norvegicus", 
            "tax_id": 10116
        }, 
        {
            "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"
                }
            ], 
            "organism": "Mus musculus", 
            "tax_id": 10090
        }
    ], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140158.1", 
        "ac": "NP_001140158.1", 
        "name": "geminin coiled-coil domain-containing protein 1.", 
        "summary": ""
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A6NCL1", 
                                "id": "A6NCL1", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "chromatin binding", 
                        "id": "GO:0003682"
                    }
                ], 
                "total": 1, 
                "name": "Molecular Function"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A6NCL1", 
                                "id": "A6NCL1", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "nucleus", 
                        "id": "GO:0005634"
                    }
                ], 
                "total": 1, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A6NCL1", 
                                "id": "A6NCL1", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "cell population proliferation", 
                        "id": "GO:0008283"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A6NCL1", 
                                "id": "A6NCL1", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "cilium assembly", 
                        "id": "GO:0060271"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007049", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A6NCL1", 
                                "id": "A6NCL1", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "cell cycle", 
                        "id": "GO:0007049"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006270", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A6NCL1", 
                                "id": "A6NCL1", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "DNA replication initiation", 
                        "id": "GO:0006270"
                    }
                ], 
                "total": 4, 
                "name": "Biological Process"
            }
        ]
    }, 
    "site_annotation": [
        {
            "end_pos": 171, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 169
        }, 
        {
            "end_pos": 210, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 208
        }, 
        {
            "end_pos": 291, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 289
        }
    ], 
    "crossref": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140158.1", 
            "id": "NP_001140158.1", 
            "database": "RefSeq"
        }, 
        {
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=40049", 
            "id": "40049", 
            "database": "HGNC"
        }, 
        {
            "url": "https://pharos.nih.gov/targets/A6NCL1", 
            "id": "A6NCL1", 
            "database": "PHAROS"
        }, 
        {
            "url": "https://www.nextprot.org/entry/NX_A6NCL1", 
            "id": "NX_A6NCL1", 
            "database": "neXtProt"
        }, 
        {
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GMNC", 
            "id": "GMNC", 
            "database": "GeneCards"
        }, 
        {
            "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:647309", 
            "id": "hsa:647309", 
            "database": "KEGG Pathway"
        }, 
        {
            "url": "https://www.rcsb.org/structure/5C9N", 
            "id": "5C9N", 
            "database": "PDB"
        }, 
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205835", 
            "id": "ENSG00000205835", 
            "database": "Bgee"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/PIDYGGD/", 
            "id": "PIDYGGD", 
            "database": "OMA"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR029700", 
            "id": "IPR029700", 
            "database": "InterPro"
        }, 
        {
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13372:SF2", 
            "id": "PTHR13372:SF2", 
            "database": "PANTHER"
        }, 
        {
            "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A6NCL1", 
            "id": "PR_A6NCL1", 
            "database": "PRO"
        }, 
        {
            "url": "https://www.ebi.ac.uk/intact/interactors/id:A6NCL1*", 
            "id": "A6NCL1", 
            "database": "IntAct"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/647309", 
            "id": "647309", 
            "database": "GeneID"
        }
    ], 
    "expression_disease": [
        {
            "trend": "Up", 
            "disease": {
                "doid": "3907", 
                "url": "http://disease-ontology.org/term/DOID:3907", 
                "icd10": "", 
                "name": "DOID:3907 / Lung squamous cell carcinoma"
            }, 
            "significant": "No", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Down", 
            "disease": {
                "doid": "11054", 
                "url": "http://disease-ontology.org/term/DOID:11054", 
                "icd10": "", 
                "name": "DOID:11054 / Urinary bladder cancer [UBC]"
            }, 
            "significant": "No", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Up", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "DOID:1781 / Thyroid cancer [Thyca]"
            }, 
            "significant": "No", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Down", 
            "disease": {
                "doid": "5041", 
                "url": "http://disease-ontology.org/term/DOID:5041", 
                "icd10": "", 
                "name": "DOID:5041 / Esophageal cancer [EC]"
            }, 
            "significant": "No", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NCL1", 
                    "id": "A6NCL1", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Up", 
            "disease": {
                "doid": "10283", 
                "url": "http://disease-ontology.org/term/DOID:10283", 
                "icd10": "", 
                "name": "DOID:10283 / Prostate cancer [PCa]"
            }, 
            "significant": "Yes", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NCL1", 
                    "id": "A6NCL1", 
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        {
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    ]
}