{ "uniprot_canonical_ac": "O75746-1", "uniprot_ac": "O75746", "uniprot_id": "S2512_HUMAN", "mass": { "chemical_mass": 74762.0, "monoisotopic_mass": 74762.0 }, "refseq": { "ac": "NP_003696", "name": "electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial", "summary": "This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696" }, "gene_names": [ { "name": "SLC25A12", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75746", "id": "O75746" }, { "name": "AGC1; ARALAR; DEE39; EIEE39", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696", "id": "NP_003696" }, { "name": "AGC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75746", "id": "O75746" }, { "name": "ARALAR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75746", "id": "O75746" }, { "name": "SLC25A12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696", "id": "NP_003696" } ], "protein_names": [ { "name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75746" }, { "name": "Araceli hiperlarga", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75746" }, { "name": "Aralar1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75746" }, { "name": "Aralar", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75746" }, { "name": "Mitochondrial aspartate glutamate carrier 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75746" }, { "name": "Solute carrier family 25 member 12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75746" }, { "name": "calcium binding mitochondrial carrier superfamily member Aralar1; mitochondrial aspartate glutamate carrier 1; solute carrier family 25 (mitochondrial carrier, Aralar), member 12; calcium-binding mitochondrial carrier protein Aralar1; aspartate/glutamate carrier 1; solute carrier family 25 (aspartate/glutamate carrier), member 12; araceli hiperlarga", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696", "id": "NP_003696" }, { "name": "electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696", "id": "NP_003696" } ], "function": [ { "annotation": "Genetic variants of SLC25A12 may be associated with risks for childhood ASD.", "evidence": [ { "database": "RefSeq", "id": "NP_003696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696" }, { "database": "PubMed", "id": "28536923", "url": "https://glygen.org/publication/PubMed/28536923" } ] }, { "annotation": "High SLC25A12 expression significantly associated with poor prognosis of acute myeloid leukemia patients", "evidence": [ { "database": "RefSeq", "id": "NP_003696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696" }, { "database": "PubMed", "id": "32319366", "url": "https://glygen.org/publication/PubMed/32319366" } ] }, { "annotation": "Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:19641205, PubMed:24515575). Also mediates the uptake of L-cysteinesulfinate by mitochondria in exchange of L-glutamate and proton. Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation (PubMed:11566871).", "evidence": [ { "database": "UniProtKB", "id": "O75746", "url": "https://www.uniprot.org/uniprot/O75746#function" }, { "database": "PubMed", "id": "24515575", "url": "https://glygen.org/publication/PubMed/24515575" }, { "database": "PubMed", "id": "11566871", "url": "https://glygen.org/publication/PubMed/11566871" }, { "database": "PubMed", "id": "19641205", "url": "https://glygen.org/publication/PubMed/19641205" } ] }, { "annotation": "The features of AGC1 structure and function in physiology and pathology, regulation by calcium, dependency on mitochondrial membrane potential, role in cancer cells, and tissue specificity are reviewed. AGC1 is involved in the glutamate-mediated excitotoxicity in neurons and AGC gene or protein alterations were discovered in rare human diseases. Review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_003696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696" }, { "database": "PubMed", "id": "27132995", "url": "https://glygen.org/publication/PubMed/27132995" } ] }, { "annotation": "The microRNAs miR-302b and miR-372 regulate mitochondrial metabolism via the SLC25A12 transporter, which controls MAVS-mediated antiviral innate immunity.", "evidence": [ { "database": "RefSeq", "id": "NP_003696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696" }, { "database": "PubMed", "id": "31767682", "url": "https://glygen.org/publication/PubMed/31767682" } ] }, { "annotation": "This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_003696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696" } ] } ], "disease": [ { "disease_id": "DOID:0080349", "recommended_name": { "id": "DOID:0080349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080349", "name": "developmental and epileptic encephalopathy 39", "description": "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0080349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080349", "name": "epileptic encephalopathy with global cerebral demyelination", "description": "" }, { "id": "DOID:0080349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080349", "name": "AGC1 deficiency", "description": "" }, { "id": "DOID:0080349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080349", "name": "early infantile epileptic encephalopathy 39", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "developmental and epileptic encephalopathy, 39", "description": "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "AGC1 deficiency", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "DEE39", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "EIEE39", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "SLC25A12 early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "developmental and epileptic encephalopathy 39", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "early infantile epileptic encephalopathy caused by mutation in SLC25A12", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "epileptic encephalopathy with global cerebral demyelination", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "epileptic encephalopathy, early infantile, 39", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "mitochondrial aspartate-glutamate carrier 1 deficiency", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "aspartate-glutamate carrier 1 deficiency", "description": "" }, { "id": "MONDO:0013056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013056", "name": "hypomyelination, global cerebral", "description": "" }, { "id": "MIM:612949", "resource": "MIM", "url": "https://www.omim.org/entry/612949", "name": "Developmental and epileptic encephalopathy 39 with leukodystrophy", "description": "Developmental and epileptic encephalopathy 39 with leukodystrophy" } ], "evidence": [ { "id": "612949", "database": "MIM", "url": "https://www.omim.org/entry/612949" } ] } ], "snv": [ { "evidence": [ { "id": "rs1047272344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1047272344" }, { "id": "rs1047272344", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1047272344#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 112, "end_pos": 112, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVK->NVT).", "chr_id": "2", "chr_pos": "171844499", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770751330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770751330" }, { "id": "rs770751330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770751330" }, { "id": "rs770751330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770751330" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 209, "end_pos": 209, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "2", "chr_pos": "171834852", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759516719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759516719" }, { "id": "rs759516719", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759516719" }, { "id": "rs759516719", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759516719" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 305, "end_pos": 305, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "2", "chr_pos": "171826815", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1179454976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179454976" }, { "id": "rs1179454976", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1179454976#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 412, "end_pos": 412, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDF->NDS).", "chr_id": "2", "chr_pos": "171809676", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F412", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773263466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773263466" }, { "id": "rs773263466", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773263466" }, { "id": "rs773263466", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773263466" }, { "id": "rs770090900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770090900" }, { "id": "rs770090900", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770090900" }, { "id": "rs770090900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770090900" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 50, "end_pos": 50, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDP->NDS).", "chr_id": "2", "chr_pos": "171868742", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P50", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75746", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75746" } ], "glycoeffect": [], "start_pos": 624, "end_pos": 624, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "171785440", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R624", "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", 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"MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "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 developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "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", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75746" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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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 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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": "O75746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75746" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75746" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75746", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75746" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75746", "url": "https://www.uniprot.org/uniprot/O75746" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC25A12", "url": "https://www.uniprot.org/uniprot/O75746", "locus": { "chromosome": "2", "start_pos": 171783405, "end_pos": 171999859, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000115840", "url": "https://www.ensembl.org/id/ENSG00000115840" } ] } } ], "crossref": [ { "id": "ENSG00000115840", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115840", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75746", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75746", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "SLC25A12", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A12", "database": "GeneCards", 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018247", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018247", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023395", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023395", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039800", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039800", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8604", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8604", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603667", "url": "http://www.omim.org/entry/603667", "database": "MIM", "categories": [ "Other" ] }, { "id": "612949", "url": "http://www.omim.org/entry/612949", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75746", "url": "https://www.nextprot.org/entry/NX_O75746", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75746", "url": "https://oglcnac.org/atlas/detail/O75746", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75746", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75746", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "AFQNVMR", "url": "https://omabrowser.org/oma/group/AFQNVMR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1220009at2759", "url": "http://www.orthodb.org/?query=1220009at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12294", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12294", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12294:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12294:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45678", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45678", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45678:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45678:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4P5X", "url": "https://www.rcsb.org/structure/4P5X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4P60", "url": "https://www.rcsb.org/structure/4P60", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00153", "url": "http://pfam.xfam.org/family/PF00153", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75746", "url": "https://pharos.nih.gov/targets/O75746", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75746", "url": "http://purl.obolibrary.org/obo/PR_O75746", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8963693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963693", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003696", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "70783", "url": "https://www.rhea-db.org/rhea/70783", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70967", "url": "https://www.rhea-db.org/rhea/70967", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "70975", "url": "https://www.rhea-db.org/rhea/70975", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "B4DGK6", "url": "https://www.uniprot.org/uniprot/B4DGK6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DGK6-1", "url": "https://www.uniprot.org/uniprot/B4DGK6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W9J0", "url": "https://www.uniprot.org/uniprot/F8W9J0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W9J0-1", "url": "https://www.uniprot.org/uniprot/F8W9J0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFB2", "url": "https://www.uniprot.org/uniprot/H0YFB2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFB2-1", "url": "https://www.uniprot.org/uniprot/H0YFB2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75746", "url": "https://www.uniprot.org/uniprot/O75746", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75746-1", "url": "https://www.uniprot.org/uniprot/O75746-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75746-2", "url": "https://www.uniprot.org/uniprot/O75746-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVAATQ", "length": 678, "header": "sp|O75746-1|S2512_HUMAN Isoform 1 of Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial OS=Homo sapiens OX=9606 GN=SLC25A12 PE=1 SV=2 CANONICAL=O75746-1" }, "isoforms": [ { "isoform_ac": "B4DGK6-1", "url": "", "sequence": { "sequence": "MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFGGVLWPHRWYSSSFQAHSWNRHGGSLGEECQPRSEKMSKKFLDRLLFIIISLLTGIVNLSDCILGITGRSILTTQNSRSFSRSCNWNMQDKPLHSKTKAKVA", "length": 210, "header": "tr|B4DGK6-1|B4DGK6_HUMAN Computationally mapped isoform of cDNA FLJ57722, highly similar to Calcium-binding mitochondrial carrier protein Aralar1 OS=Homo sapiens OX=9606 GN=SLC25A12 PE=1 SV=1 CANONICAL=O75746-1" }, "locus": { "chromosome": "2", "start_pos": 171894214, "end_pos": 171837207, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426896.5", "url": "https://www.ensembl.org/id/ENST00000426896.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413968.1", "url": "https://www.ensembl.org/id/ENSP00000413968.1" } ] } }, { "isoform_ac": "F8W9J0-1", "url": "", "sequence": { "sequence": "MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGKCQRNFWTDYYSSSYPF", "length": 87, "header": "tr|F8W9J0-1|F8W9J0_HUMAN Computationally mapped isoform of Solute carrier family 25 member 12 OS=Homo sapiens OX=9606 GN=SLC25A12 PE=1 SV=1 CANONICAL=O75746-1" }, "locus": { "chromosome": "2", "start_pos": 171894214, "end_pos": 171844457, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263812.8", "url": "https://www.ensembl.org/id/ENST00000263812.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000263812.4", "url": "https://www.ensembl.org/id/ENSP00000263812.4" } ] } }, { "isoform_ac": "H0YFB2-1", "url": "", "sequence": { "sequence": "VQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFGFWIWGKGGVLWPHRWYSSSFQAHSWNRHGGSLGEECQPRSEGRNESCIPFQRKDENPISPVTSNAFFQLC", "length": 175, "header": "tr|H0YFB2-1|S2512_HUMAN Computationally mapped isoform of Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial OS=Homo sapiens OX=9606 GN=SLC25A12 PE=1 SV=1 CANONICAL=O75746-1" }, "locus": { "chromosome": "2", "start_pos": 171893258, "end_pos": 171845772, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475360.6", "url": "https://www.ensembl.org/id/ENST00000475360.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000437845.1", "url": "https://www.ensembl.org/id/ENSP00000437845.1" } ] } }, { "isoform_ac": "O75746-1", "url": "", "sequence": { "sequence": "MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVAATQ", "length": 678, "header": "sp|O75746-1|S2512_HUMAN Isoform 1 of Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial OS=Homo sapiens OX=9606 GN=SLC25A12 PE=1 SV=2 CANONICAL=O75746-1" }, "locus": { "chromosome": "2", "start_pos": 171894214, "end_pos": 171785277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422440.7", "url": "https://www.ensembl.org/id/ENST00000422440.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000388658.2", "url": "https://www.ensembl.org/id/ENSP00000388658.2" } ] } }, { "isoform_ac": "O75746-2", "url": "", "sequence": { "sequence": "MENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVAATQ", "length": 571, "header": "sp|O75746-2|S2512_HUMAN Isoform 2 of Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial OS=Homo sapiens OX=9606 GN=SLC25A12 PE=1 SV=2 CANONICAL=O75746-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 256, "start_aa": "Ser", "end_pos": 256, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser256", "evidence": [ { "id": "O75746", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75746" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "O75746", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75746" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Isolation and expression of novel human glutamate carboxypeptidases with N-acetylated alpha-linked acidic dipeptidase and dipeptidyl peptidase IV activity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Pangalos MN, Neefs JM, Somers M, Verhasselt P, Bekkers M, van der Helm L, Fraiponts E, Ashton D, Gordon RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8963693", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8963693" } ], "reference": [ { "type": "PubMed", "id": "10085079", "url": "https://glygen.org/publication/PubMed/10085079" } ] }, { "title": "Structure, function and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "1999", "authors": "Jitrapakdee S, Wallace JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10229653", "url": "https://glygen.org/publication/PubMed/10229653" } ] }, { "title": "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.", "journal": "Nat. Genet.", "date": "1999", "authors": "Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T", "evidence": [ { "database": "UniProtKB", "id": "O75746", "url": "https://www.uniprot.org/uniprot/O75746" }, { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10369257", "url": "https://glygen.org/publication/PubMed/10369257" } ] }, { "title": "Organization and sequence of the gene for the human mitochondrial dicarboxylate carrier: evolution of the carrier family.", "journal": "The Biochemical journal", "date": "1999", "authors": "Fiermonte G, Dolce V, Arrigoni R, Runswick MJ, Walker JE, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10585886", "url": "https://glygen.org/publication/PubMed/10585886" } ] }, { "title": "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.", "journal": "Biochem. J.", "date": "2000", "authors": "Del Arco A, Agudo M, Satrustegui J", "evidence": [ { "database": "UniProtKB", "id": "O75746", "url": "https://www.uniprot.org/uniprot/O75746" }, { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10642534", "url": "https://glygen.org/publication/PubMed/10642534" } ] }, { "title": "Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells.", "journal": "Journal of andrology", "date": "2000", "authors": "Welch JE, Brown PL, O'Brien DA, Magyar PL, Bunch DO, Mori C, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10714828", "url": "https://glygen.org/publication/PubMed/10714828" } ] }, { "title": "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.", "journal": "Annals of neurology", "date": "2001", "authors": "Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11506403", "url": "https://glygen.org/publication/PubMed/11506403" } ] }, { "title": "Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.", "journal": "The EMBO journal", "date": "2001", "authors": "Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F", "evidence": [ { "database": "UniProtKB", "id": "O75746", "url": "https://www.uniprot.org/uniprot/O75746" }, { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11566871", "url": "https://glygen.org/publication/PubMed/11566871" } ] }, { "title": "Crystal structure of human cytosolic phosphoenolpyruvate carboxykinase reveals a new GTP-binding site.", "journal": "Journal of molecular biology", "date": "2002", "authors": "Dunten P, Belunis C, Crowther R, Hollfelder K, Kammlott U, Levin W, Michel H, Ramsey GB, Swain A, Weber D, Wertheimer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11851336", "url": "https://glygen.org/publication/PubMed/11851336" } ] }, { "title": "Transport of phosphoenolpyruvate by the tricarboxylate transporting system in mammalian mitochondria.", "journal": "FEBS letters", "date": "1971", "authors": "Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11945784", "url": "https://glygen.org/publication/PubMed/11945784" } ] }, { "title": "Effects of synthetic analogues of phosphoenolpyruvate on muscle and liver pyruvate kinase, muscle enolase, liver phosphoenolpyruvate carboxykinase and on the intra-/extra-mitochondrial tricarboxylic acid carrier transport system.", "journal": "FEBS letters", "date": "1971", "authors": "Soling HD, Walter U, Sauer H, Kleineke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11946196", "url": "https://glygen.org/publication/PubMed/11946196" } ] }, { "title": "The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ghosh A, Shieh JJ, Pan CJ, Sun MS, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12093795", "url": "https://glygen.org/publication/PubMed/12093795" } ] }, { "title": "Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.", "journal": "The Biochemical journal", "date": "2003", "authors": "Carbone MA, Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12437512", "url": "https://glygen.org/publication/PubMed/12437512" } ] }, { "title": "Relationship of phosphoenolpyruvate transport, acyl coenzyme A inhibition 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Kinetics of the external-product inhibition.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Sluse FE, Goffart G, Liebecq C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4687397", "url": "https://glygen.org/publication/PubMed/4687397" } ] }, { "title": "Inhibition of phosphoenolpyruvate transport via the tricarboxylate and adenine nucleotide carrier systems of rat liver mitochondria.", "journal": "Biochemical and biophysical research communications", "date": "1973", "authors": "Shug AL, Shrago E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4716993", "url": "https://glygen.org/publication/PubMed/4716993" } ] }, { "title": "On the specificity of the tricarboxylate carrier system in rat liver mitochondria.", "journal": "FEBS letters", "date": "1973", "authors": "Kleineke J, Sauer H, Soling HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4719206", "url": "https://glygen.org/publication/PubMed/4719206" } ] }, { "title": "Relationship between intracellular distribution of phosphoenolpyruvate carboxykinase, regulation of gluconeogenesis, and energy cost of glucose formation.", "journal": "European journal of biochemistry", "date": "1973", "authors": "Soling HD, Kleineke J, Willms B, Janson G, Kuhn A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4745729", "url": "https://glygen.org/publication/PubMed/4745729" } ] }, { "title": "Phosphoglycerate mutase isozyme marker for tissue differentiation in man.", "journal": "American journal of human genetics", "date": "1974", "authors": "Omenn GS, Cheung SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "4827367", "url": "https://glygen.org/publication/PubMed/4827367" } ] }, { "title": "Human phosphoglycerate kinase. I. Crystallization and characterization of normal enzyme.", "journal": "The Journal of biological chemistry", "date": "1972", "authors": "Yoshida A, Watanabe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "5009693", "url": "https://glygen.org/publication/PubMed/5009693" } ] }, { "title": "Primary structure of human triosephosphate isomerase.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Lu HS, Yuan PM, Gracy RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "6434534", "url": "https://glygen.org/publication/PubMed/6434534" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. Isolation and amino acid sequence of tryptic peptides.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Huang IY, Rubinfien E, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "6771269", "url": "https://glygen.org/publication/PubMed/6771269" } ] }, { "title": "Glyceraldehyde-3-phosphate dehydrogenase from human tissues.", "journal": "Methods in enzymology", "date": "1982", "authors": "Heinz F, Freimuller B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7144574", "url": "https://glygen.org/publication/PubMed/7144574" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. 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glucose-6-phosphatase locus.", "journal": "American journal of human genetics", "date": "1995", "authors": "Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7573034", "url": "https://glygen.org/publication/PubMed/7573034" } ] }, { "title": "Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.", "journal": "American journal of human genetics", "date": "1995", "authors": "Ali M, Cox TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "7717389", "url": "https://glygen.org/publication/PubMed/7717389" } ] }, { "title": "Mutations in the glucose-6-phosphatase gene that cause glycogen storage 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carboxykinase from human liver.", "journal": "The Biochemical journal", "date": "1996", "authors": "Modaressi S, Christ B, Bratke J, Zahn S, Heise T, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8645161", "url": "https://glygen.org/publication/PubMed/8645161" } ] }, { "title": "Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.", "journal": "American journal of human genetics", "date": "1997", "authors": "Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9382095", "url": "https://glygen.org/publication/PubMed/9382095" } ] }, { "title": 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