{
    "uniprot_canonical_ac": "A0JPJ0-1", 
    "ptm_annotation": [], 
    "sequence": {
        "header": "tr|A0JPJ0-1|A0JPJ0_RAT Isoform 1 of Nicotinamide-nucleotide adenylyltransferase  OS=Rattus norvegicus OX=10116 GN=Nmnat1 PE=1 SV=1 CANONICAL=A0JPJ0-1", 
        "length": 285, 
        "sequence": "MDSSKKTEVVLLACGSFNPITNMHLRLFELAKDYLNATGEYKVIKGIISPVGDAYKKKGLIPAHHRIIMAELATKNSHWVEVDTWESLQKEWVETVKVLRHHQEKLATGSRSHPQSSPVLERPGRKRKWADQKQDSSPQKPQEPKPTGVPRVKLLCGADLLESFSVPNLWKMEDITQIVANFGLICVTRAGSDAQKFIYESDVLWRHQSNIHLVTEWITNDISSTKIRRALRRGQSIRYLVPDLVQEYIEEHDLYNSESEDRNAGVTLAPLQRNTSEAKHNHSTR"
    }, 
    "uniprot_id": "A0JPJ0_RAT", 
    "enzyme_annotation": [
        {
            "ec": "2.7.7.18", 
            "activity": ""
        }, 
        {
            "ec": "2.7.7.18", 
            "activity": "ATP + beta-nicotinate-D-ribonucleotide = diphosphate + deamido-NAD(+)."
        }, 
        {
            "ec": "2.7.7.1", 
            "activity": ""
        }, 
        {
            "ec": "2.7.7.1", 
            "activity": "ATP + nicotinamide ribonucleotide = diphosphate + NAD(+)."
        }
    ], 
    "glycation": [], 
    "keywords": [], 
    "species": [
        {
            "common_name": "Rat", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                    "id": "A0JPJ0", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Rattus norvegicus", 
            "taxid": 10116
        }
    ], 
    "publication": [
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/11027696", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "11027696"
                }
            ], 
            "title": "Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase.", 
            "journal": "The Journal of biological chemistry", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
                    "id": "NP_001032645.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Emanuelli M, Carnevali F, Saccucci F, Pierella F, Amici A, Raffaelli N, Magni G", 
            "date": "2001"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/11248244", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "11248244"
                }
            ], 
            "title": "Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis.", 
            "journal": "FEBS letters", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
                    "id": "NP_001032645.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Schweiger M, Hennig K, Lerner F, Niere M, Hirsch-Kauffmann M, Specht T, Weise C, Oei SL, Ziegler M", 
            "date": "2001"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/15381699", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "15381699"
                }
            ], 
            "title": "The NAD biosynthesis pathway mediated by nicotinamide phosphoribosyltransferase regulates Sir2 activity in mammalian cells.", 
            "journal": "The Journal of biological chemistry", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
                    "id": "NP_001032645.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Revollo JR, Grimm AA, Imai S", 
            "date": "2004"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/16118205", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "16118205"
                }
            ], 
            "title": "Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.", 
            "journal": "The Journal of biological chemistry", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
                    "id": "NP_001032645.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Berger F, Lau C, Dahlmann M, Ziegler M", 
            "date": "2005"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "22673903"
                }
            ], 
            "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", 
            "journal": "Nat. Commun.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                    "id": "A0JPJ0", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Olsen J.V., Lage K., Secher A., Dmytriyev A., Lundby A., Lundby C., Nordsborg N.B.", 
            "date": "2012"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/27184051", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "27184051"
                }
            ], 
            "title": "Nmnat 1: a Security Guard of Retinal Ganglion Cells (RGCs) in Response to High Glucose Stress.", 
            "journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
                    "id": "NP_001032645.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Zhou RM, Shen Y, Yao J, Yang H, Shan K, Li XM, Jiang Q, Yan B", 
            "date": "2016"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/27257257", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "27257257"
                }
            ], 
            "title": "ADP-ribose-derived nuclear ATP synthesis by NUDIX5 is required for chromatin remodeling.", 
            "journal": "Science (New York, N.Y.)", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
                    "id": "NP_001032645.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Wright RH, Lioutas A, Le Dily F, Soronellas D, Pohl A, Bonet J, Nacht AS, Samino S, Font-Mateu J, Vicent GP, Wierer M, Trabado MA, Schelhorn C, Carolis C, Macias MJ, Yanes O, Oliva B, Beato M", 
            "date": "2016"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/27735788", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "27735788"
                }
            ], 
            "title": "NMNAT1 inhibits axon degeneration via blockade of SARM1-mediated NAD(+) depletion.", 
            "journal": "eLife", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
                    "id": "NP_001032645.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Sasaki Y, Nakagawa T, Mao X, DiAntonio A, Milbrandt J", 
            "date": "2016"
        }
    ], 
    "uniprot_ac": "A0JPJ0", 
    "site_annotation": [
        {
            "end_pos": 276, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 274
        }, 
        {
            "end_pos": 283, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 281
        }, 
        {
            "end_pos": 38, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 36
        }
    ], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A0JPJ0#A0JPJ0-1", 
            "isoform_ac": "A0JPJ0-1", 
            "locus": {
                "end_pos": 166410613, 
                "strand": "+", 
                "start_pos": 166419421, 
                "chromosome": "5", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSRNOT00000048914", 
                        "id": "ENSRNOT00000048914", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSRNOP00000041982", 
                        "id": "ENSRNOP00000041982", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|A0JPJ0-1|A0JPJ0_RAT Isoform 1 of Nicotinamide-nucleotide adenylyltransferase  OS=Rattus norvegicus OX=10116 GN=Nmnat1 PE=1 SV=1 CANONICAL=A0JPJ0-1", 
                "length": 285, 
                "sequence": "MDSSKKTEVVLLACGSFNPITNMHLRLFELAKDYLNATGEYKVIKGIISPVGDAYKKKGLIPAHHRIIMAELATKNSHWVEVDTWESLQKEWVETVKVLRHHQEKLATGSRSHPQSSPVLERPGRKRKWADQKQDSSPQKPQEPKPTGVPRVKLLCGADLLESFSVPNLWKMEDITQIVANFGLICVTRAGSDAQKFIYESDVLWRHQSNIHLVTEWITNDISSTKIRRALRRGQSIRYLVPDLVQEYIEEHDLYNSESEDRNAGVTLAPLQRNTSEAKHNHSTR"
            }
        }
    ], 
    "pathway": [
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:298653", 
            "resource": "KEGG Pathway", 
            "id": "rno:298653", 
            "name": ""
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-196807", 
            "resource": "Reactome", 
            "id": "R-RNO-196807", 
            "name": "Nicotinate metabolism"
        }
    ], 
    "function": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
            "annotation": "Nmnat1 protects Retinal Ganglion Cells against high glucose-induced injury via p38-MAPK signaling pathway.", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
                    "id": "NP_001032645.2", 
                    "database": "RefSeq"
                }
            ]
        }
    ], 
    "orthologs": [
        {
            "uniprot_canonical_ac": "Q9EPA7-1", 
            "protein_name": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1", 
            "sequence": {
                "length": 285, 
                "sequence": "MDSSKKTEVVLLACGSFNPITNMHLRLFELAKDYMHATGKYSVIKGIISPVGDAYKKKGLIPAHHRIIMAELATKNSHWVEVDTWESLQKEWVETVKVLRYHQEKLATGSCSYPQSSPALEKPGRKRKWADQKQDSSPQKPQEPKPTGVPKVKLLCGADLLESFSVPNLWKMEDITQIVANFGLICITRAGSDAQKFIYESDVLWRHQSNIHLVNEWITNDISSTKIRRALRRGQSIRYLVPDLVQEYIEKHELYNTESEGRNAGVTLAPLQRNAAEAKHNHSTL"
            }, 
            "evidence": [
                {
                    "url": "http://www.informatics.jax.org/homology/39074", 
                    "id": "39074", 
                    "database": "MGI"
                }, 
                {
                    "url": "https://omabrowser.org/oma/group/A0JPJ0/", 
                    "id": "A0JPJ0", 
                    "database": "OMA"
                }
            ], 
            "common_name": "Mouse", 
            "organism": "Mus musculus", 
            "gene_name": "Nmnat1", 
            "tax_id": 10090
        }, 
        {
            "uniprot_canonical_ac": "Q9HAN9-1", 
            "protein_name": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1", 
            "sequence": {
                "length": 279, 
                "sequence": "MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWVEVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLLESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLVPDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT"
            }, 
            "evidence": [
                {
                    "url": "http://www.informatics.jax.org/homology/39074", 
                    "id": "39074", 
                    "database": "MGI"
                }
            ], 
            "common_name": "Human", 
            "organism": "Homo sapiens", 
            "gene_name": "NMNAT1", 
            "tax_id": 9606
        }
    ], 
    "interactions": [], 
    "synthesized_glycans": [], 
    "snv": [], 
    "cluster_types": [
        {
            "name": "homologset.mgi", 
            "label": "MGI Homologs"
        }, 
        {
            "name": "homologset.oma", 
            "label": "OMA Homologs"
        }
    ], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
        "ac": "NP_001032645.2", 
        "name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1", 
        "summary": ""
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "ATP binding", 
                        "id": "GO:0005524"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "identical protein binding", 
                        "id": "GO:0042802"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004515", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "nicotinate-nucleotide adenylyltransferase activity", 
                        "id": "GO:0004515"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000309", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "nicotinamide-nucleotide adenylyltransferase activity", 
                        "id": "GO:0000309"
                    }
                ], 
                "total": 4, 
                "name": "Molecular Function"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", 
                        "pmid": "27184051", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "nucleus", 
                        "id": "GO:0005634"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", 
                        "pmid": "27184051", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "cytoplasm", 
                        "id": "GO:0005737"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "nuclear body", 
                        "id": "GO:0016604"
                    }
                ], 
                "total": 3, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", 
                        "pmid": "27184051", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "positive regulation of MAPK cascade", 
                        "id": "GO:0043410"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", 
                        "pmid": "27184051", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "negative regulation of neuron apoptotic process", 
                        "id": "GO:0043524"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902511", 
                        "pmid": "27184051", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "negative regulation of apoptotic DNA fragmentation", 
                        "id": "GO:1902511"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901215", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "negative regulation of neuron death", 
                        "id": "GO:1901215"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "response to wounding", 
                        "id": "GO:0009611"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009435", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "NAD biosynthetic process", 
                        "id": "GO:0009435"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990966", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
                                "id": "A0JPJ0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "ATP generation from poly-ADP-D-ribose", 
                        "id": "GO:1990966"
                    }
                ], 
                "total": 7, 
                "name": "Biological Process"
            }
        ]
    }, 
    "gene_names": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A0JPJ0", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "Nmnat1"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "Nmnat1"
        }
    ], 
    "pro_annotation": [], 
    "crossref": [
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000015962", 
            "id": "ENSRNOG00000015962", 
            "database": "Bgee"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/298653", 
            "id": "298653", 
            "database": "GeneID"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR004821", 
            "id": "IPR004821", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR005248", 
            "id": "IPR005248", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:298653", 
            "id": "rno:298653", 
            "database": "KEGG Pathway"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/PAHHRVI/", 
            "id": "PAHHRVI", 
            "database": "OMA"
        }, 
        {
            "url": "http://www.orthodb.org/?query=1308027at2759", 
            "id": "1308027at2759", 
            "database": "OrthoDB"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF01467", 
            "id": "PF01467", 
            "database": "Pfam"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-196807", 
            "id": "R-RNO-196807", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032645.2", 
            "id": "NP_001032645.2", 
            "database": "RefSeq"
        }, 
        {
            "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1310996", 
            "id": "1310996", 
            "database": "RGD"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
            "id": "A0JPJ0", 
            "database": "UniProtKB"
        }
    ], 
    "expression_disease": [], 
    "glycosylation": [], 
    "mutagenesis": [], 
    "disease": [
        {
            "synonyms": [
                {
                    "id": "MONDO:0012056", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0012056", 
                    "resource": "MONDO", 
                    "name": "NMNAT1 Leber congenital amaurosis", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0012056", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0012056", 
                    "resource": "MONDO", 
                    "name": "Leber congenital amaurosis 9; LCA9", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0012056", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0012056", 
                    "resource": "MONDO", 
                    "name": "LCA9", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0012056", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0012056", 
                    "resource": "MONDO", 
                    "name": "Leber congenital amaurosis type 9", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0012056", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0012056", 
                    "resource": "MONDO", 
                    "name": "Leber congenital amaurosis caused by mutation in NMNAT1", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0012056", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0012056", 
                    "resource": "MONDO", 
                    "name": "amaurosis congenita of Leber, type 9", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0110005", 
                    "url": "http://disease-ontology.org/term/DOID:0110005", 
                    "resource": "Disease Ontology", 
                    "name": "LCA9", 
                    "description": ""
                }
            ], 
            "recommended_name": {
                "id": "DOID:0110005", 
                "url": "http://disease-ontology.org/term/DOID:0110005", 
                "resource": "Disease Ontology", 
                "name": "Leber congenital amaurosis 9", 
                "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36."
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/0110005#disease-associations", 
                    "id": "0110005", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "synonyms": [], 
            "recommended_name": {
                "id": "DOID:11446", 
                "url": "http://disease-ontology.org/term/DOID:11446", 
                "resource": "Disease Ontology", 
                "name": "sciatic neuropathy", 
                "description": ""
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/11446#disease-associations", 
                    "id": "11446", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "synonyms": [
                {
                    "id": "DOID:8466", 
                    "url": "http://disease-ontology.org/term/DOID:8466", 
                    "resource": "Disease Ontology", 
                    "name": "degeneration of retina", 
                    "description": ""
                }
            ], 
            "recommended_name": {
                "id": "DOID:8466", 
                "url": "http://disease-ontology.org/term/DOID:8466", 
                "resource": "Disease Ontology", 
                "name": "retinal degeneration", 
                "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina."
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/8466#disease-associations", 
                    "id": "8466", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }
    ], 
    "phosphorylation": [], 
    "mass": {
        "monoisotopic_mass": 32534.0, 
        "chemical_mass": 32534.0
    }, 
    "expression_tissue": [], 
    "gene": [
        {
            "url": "https://www.uniprot.org/uniprot/A0JPJ0", 
            "name": "Nmnat1", 
            "locus": {
                "end_pos": 166409461, 
                "strand": "-", 
                "start_pos": 166430254, 
                "chromosome": "5", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSRNOG00000015962", 
                        "id": "ENSRNOG00000015962", 
                        "database": "Ensembl Gene"
                    }
                ]
            }
        }
    ], 
    "protein_names": [
        {
            "url": "https://www.uniprot.org/uniprot/A0JPJ0#names_and_taxonomy", 
            "type": "synonym", 
            "resource": "UniProtKB", 
            "name": "2.7.7.18"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0JPJ0#names_and_taxonomy", 
            "type": "synonym", 
            "resource": "UniProtKB", 
            "name": "2.7.7.1"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0JPJ0#names_and_taxonomy", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "Nicotinamide-nucleotide adenylyltransferase"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0JPJ0#names_and_taxonomy", 
            "type": "synonym", 
            "resource": "UniProtKB", 
            "name": "Nicotinate-nucleotide adenylyltransferase"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A0JPJ0", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "nicotinamide mononucleotide adenylyl transferase 1"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A0JPJ0", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1"
        }
    ]
}