{ "uniprot_canonical_ac": "O95479-1", "uniprot_ac": "O95479", "uniprot_id": "G6PE_HUMAN", "mass": { "chemical_mass": 88893.0, "monoisotopic_mass": 88893.0 }, "refseq": { "ac": "NP_004276", "name": "GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor", "summary": "There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" }, "gene_names": [ { "name": "H6PD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95479", "id": "O95479" }, { "name": "CORTRD1; G6PDH; GDH; H6PDH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276", "id": "NP_004276" }, { "name": "GDH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95479", "id": "O95479" }, { "name": "H6PD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276", "id": "NP_004276" } ], "protein_names": [ { "name": "GDH/6PGL endoplasmic bifunctional protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95479" }, { "name": "1.1.1.363", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95479" }, { "name": "1.1.1.47", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95479" }, { "name": "GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276", "id": "NP_004276" }, { "name": "GDH/6PGL endoplasmic bifunctional protein; glucose dehyrogenase; 6-phosphogluconolactonase; glucose-6-phosphate dehydrogenase, salivary; G6PD, H form; glucose dehydrogenase; glucose 1- dehydrogenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276", "id": "NP_004276" }, { "name": "GDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95479" }, { "name": "Glucose 1-dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95479" }, { "name": "Glucose-6-phosphate dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95479" } ], "function": [ { "annotation": "Bifunctional enzyme localized in the lumen of the endoplasmic reticulum that catalyzes the first two steps of the oxidative branch of the pentose phosphate pathway/shunt, an alternative to glycolysis and a major source of reducing power and metabolic intermediates for biosynthetic processes (By similarity). Has a hexose-6-phosphate dehydrogenase activity, with broad substrate specificity compared to glucose-6-phosphate 1-dehydrogenase/G6PD, and catalyzes the first step of the pentose phosphate pathway (PubMed:12858176, PubMed:18628520, PubMed:23132696). In addition, acts as a 6-phosphogluconolactonase and catalyzes the second step of the pentose phosphate pathway (By similarity). May have a dehydrogenase activity for alternative substrates including glucosamine 6-phosphate and glucose 6-sulfate (By similarity). The main function of this enzyme is to provide reducing equivalents such as NADPH to maintain the adequate levels of reductive cofactors in the oxidizing environment of the endoplasmic reticulum (PubMed:12858176, PubMed:18628520, PubMed:23132696). By producing NADPH that is needed by reductases of the lumen of the endoplasmic reticulum like corticosteroid 11-beta-dehydrogenase isozyme 1/HSD11B1, indirectly regulates their activity (PubMed:18628520).", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479#function" }, { "database": "PubMed", "id": "12858176", "url": "https://glygen.org/publication/PubMed/12858176" }, { "database": "UniProtKB", "id": "Q8CFX1", "url": "https://www.uniprot.org/uniprot/Q8CFX1#function" }, { "database": "PubMed", "id": "23132696", "url": "https://glygen.org/publication/PubMed/23132696" }, { "database": "PubMed", "id": "18628520", "url": "https://glygen.org/publication/PubMed/18628520" } ] }, { "annotation": "Cortisol reduces glucose-6-phosphate (G6P) flux through H6PDH by increasing luminal NADPH, thereby allowing more G6P for hydrolysis via G6Pase", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" }, { "database": "PubMed", "id": "26860459", "url": "https://glygen.org/publication/PubMed/26860459" } ] }, { "annotation": "Data indicate the tetramer as the most active form of glucose-6-phosphate dehydrogenase (G6PDH).", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" }, { "database": "PubMed", "id": "28370139", "url": "https://glygen.org/publication/PubMed/28370139" } ] }, { "annotation": "Knockdown of H6PD resulted in an increase in ER lumen oxidation, and down-regulation of many components of the unfolded protein response, including the transcription factors activating transcription factor-4, activating transcription factor-6, split X-box binding protein-1, and CCAAT/enhancer binding protein homologous protein.", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" }, { "database": "PubMed", "id": "29295867", "url": "https://glygen.org/publication/PubMed/29295867" } ] }, { "annotation": "The G allele of rs6688832 in H6PD might exert potential genetic protective role against the development of PCOS, especially in overweight women. PCOS patients with AG genotype of rs6688832 might confer risk to the phenotype of hyperandrogenemia of PCOS. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" }, { "database": "PubMed", "id": "26452272", "url": "https://glygen.org/publication/PubMed/26452272" } ] }, { "annotation": "There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" } ] }, { "annotation": "Tumor-suppressive microRNA-551b-3p targets H6PD to inhibit gallbladder cancer progression.", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" }, { "database": "PubMed", "id": "33250514", "url": "https://glygen.org/publication/PubMed/33250514" } ] } ], "disease": [ { "disease_id": "DOID:0090139", "recommended_name": { "id": "DOID:0090139", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090139", "name": "cortisone reductase deficiency", "description": "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism." }, "synonyms": [ { "id": "DOID:0090139", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090139", "name": "CORTRD", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "cortisone reductase deficiency 1", "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "CORTRD1", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "H6PD cortisone reductase deficiency", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "apparent cortisone reductase deficiency", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "cortisone reductase deficiency 1", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "cortisone reductase deficiency caused by mutation in H6PD", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "cortisone reductase deficiency type 1", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "hexose-6-phosphate dehydrogenase deficiency", "description": "" }, { "id": "MIM:604931", "resource": "MIM", "url": "https://www.omim.org/entry/604931", "name": "Cortisone reductase deficiency 1", "description": "Cortisone reductase deficiency 1" } ], "evidence": [ { "id": "604931", "database": "MIM", "url": "https://www.omim.org/entry/604931" } ] }, { "disease_id": "DOID:0090141", "recommended_name": { "id": "DOID:0090141", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090141", "name": "cortisone reductase deficiency 1", "description": "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36." }, "synonyms": [ { "id": "DOID:0090141", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090141", "name": "CORTRD1", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "cortisone reductase deficiency 1", "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "CORTRD1", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "H6PD cortisone reductase deficiency", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "apparent cortisone reductase deficiency", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "cortisone reductase deficiency 1", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "cortisone reductase deficiency caused by mutation in H6PD", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "cortisone reductase deficiency type 1", "description": "" }, { "id": "MONDO:0011503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011503", "name": "hexose-6-phosphate dehydrogenase deficiency", "description": "" }, { "id": "MIM:604931", "resource": "MIM", "url": "https://www.omim.org/entry/604931", "name": "Cortisone reductase deficiency 1", "description": "Cortisone reductase deficiency 1" } ], "evidence": [ { "id": "604931", "database": "MIM", "url": "https://www.omim.org/entry/604931" } ] } ], "snv": [ { "evidence": [ { "id": "rs1252512729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252512729" }, { "id": "rs1252512729", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1252512729#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 159, "end_pos": 159, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSR).", "chr_id": "1", "chr_pos": "9245409", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1203936963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203936963" }, { "id": "rs1203936963", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1203936963#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 282, "end_pos": 282, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->DVS).", "chr_id": "1", "chr_pos": "9262157", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756577161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756577161" }, { "id": "rs756577161", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756577161" }, { "id": "rs756577161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756577161" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 282, "end_pos": 282, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "1", "chr_pos": "9262159", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746392304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746392304" }, { "id": "rs746392304", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746392304" }, { "id": "rs746392304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746392304" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 282, "end_pos": 282, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "1", "chr_pos": "9262158", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749560091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749560091" }, { "id": "rs749560091", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749560091" }, { "id": "rs749560091", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749560091" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 284, "end_pos": 284, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->NVG).", "chr_id": "1", "chr_pos": "9262163", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769053721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769053721" }, { "id": "rs769053721", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769053721" }, { "id": "rs769053721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769053721" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 284, "end_pos": 284, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->NVN).", "chr_id": "1", "chr_pos": "9262164", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1167475760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1167475760" }, { "id": "rs1167475760", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1167475760" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 377, "end_pos": 377, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQT).", "chr_id": "1", "chr_pos": "9263622", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A377", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335996009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335996009" }, { "id": "rs1335996009", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1335996009#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 571, "end_pos": 571, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "1", "chr_pos": "9264205", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1239214778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239214778" }, { "id": "rs1239214778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239214778" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 683, "end_pos": 683, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->DSS).", "chr_id": "1", "chr_pos": "9264540", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N683", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780275357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780275357" }, { "id": "rs780275357", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780275357" }, { "id": "rs780275357", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780275357#frequency_tab" }, { "id": "rs780275357", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780275357" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 685, "end_pos": 685, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSG).", "chr_id": "1", "chr_pos": "9264546", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S685", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772226619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772226619" }, { "id": "rs772226619", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772226619" }, { "id": "rs772226619", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772226619" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 730, "end_pos": 730, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "1", "chr_pos": "9264682", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S730", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765468600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765468600" }, { "id": "rs765468600", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765468600" }, { "id": "rs765468600", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765468600#frequency_tab" }, { "id": "rs765468600", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765468600" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 739, "end_pos": 739, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "1", "chr_pos": "9264708", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A739", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000049239", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95479" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": 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"url": "https://www.rcsb.org/structure/8EM2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00479", "url": "http://pfam.xfam.org/family/PF00479", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01182", "url": "http://pfam.xfam.org/family/PF01182", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02781", "url": "http://pfam.xfam.org/family/PF02781", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95479", "url": "https://pharos.nih.gov/targets/O95479", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95479", "url": "http://purl.obolibrary.org/obo/PR_O95479", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "12556", "url": "https://www.rhea-db.org/rhea/12556", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "14293", "url": "https://www.rhea-db.org/rhea/14293", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "14405", "url": "https://www.rhea-db.org/rhea/14405", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "15841", "url": "https://www.rhea-db.org/rhea/15841", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38215", "url": "https://www.rhea-db.org/rhea/38215", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "62064", "url": "https://www.rhea-db.org/rhea/62064", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "62068", "url": "https://www.rhea-db.org/rhea/62068", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "62072", "url": "https://www.rhea-db.org/rhea/62072", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "62076", "url": "https://www.rhea-db.org/rhea/62076", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": 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"MWNMLIVAMCLALLGCLQAQELQGHVSIILLGATGDLAKKYLWQGLFQLYLDEAGRGHSFSFHGAALTAPKQGQELMAKALESLSCPKDMAPSHCAEHKDQFLQLSQYRQLKTAEDYQALNKDIEAQLQHAGLREAGRIFYFSVPPFAYEDIARNINSSCRPGPGAWLRVVLEKPFGHDHFSAQQLATELGTFFQEEEMYRVDHYLGKQAVAQILPFRDQNRKALDGLWNRHHVERVEIIMKETVDAEGRTSFYEEYGVIRDVLQNHLTEVLTLVAMELPHNVSSAEAVLRHKLQVFQALRGLQRGSAVVGQYQSYSEQVRRELQKPDSFHSLTPTFAAVLVHIDNLRWEGVPFILMSGKALDERVGYARILFKNQACCVQSEKHWAAAQSQCLPRQLVFHIGHGDLGSPAVLVSRNLFRPSLPSSWKEMEGPPGLRLFGSPLSDYYAYSPVRERDAHSVLLSHIFHGRKNFFITTENLLASWNFWTPLLESLAHKAPRLYPGGAENGRLLDFEFSSGRLFFSQQQPEQLVPGPGPAPMPSDFQVLRAKYRESPLVSAWSEELISKLANDIEATAVRAVRRFGQFHLALSGGSSPVALFQQLATAHYGFPWAHTHLWLVDERCVPLSDPESNFQGLQAHLLQHVRIPYYNIHPMPVHLQQRLCAEEDQGAQIYAREISALVANSSFDLVLLGMGADGHTASLFPQSPTGLDGEQLVVLTTSPSQPHRRMSLSLPLINRAKKVAVLVMGRMKREITTLVSRVGHEPKKWPISGVLPHSGQLVWYMDYDAFLG", "length": 791, "header": "sp|O95479-1|G6PE_HUMAN Isoform 1 of GDH/6PGL endoplasmic bifunctional protein OS=Homo sapiens OX=9606 GN=H6PD PE=1 SV=2 CANONICAL=O95479-1" }, "isoforms": [ { "isoform_ac": 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CANONICAL=O95479-1" }, "locus": { "chromosome": "1", "start_pos": 9264866, "end_pos": 9244935, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377403.7", "url": "https://www.ensembl.org/id/ENST00000377403.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000366620.2", "url": "https://www.ensembl.org/id/ENSP00000366620.2" } ] } }, { "isoform_ac": "O95479-2", "url": "", "sequence": { "sequence": "MLAEPFNWHPGMWNMLIVAMCLALLGCLQAQELQGHVSIILLGATGDLAKKYLWQGLFQLYLDEAGRGHSFSFHGAALTAPKQGQELMAKALESLSCPKDMAPSHCAEHKDQFLQLSQYRQLKTAEDYQALNKDIEAQLQHAGLREAGRIFYFSVPPFAYEDIARNINSSCRPGPGAWLRVVLEKPFGHDHFSAQQLATELGTFFQEEEMYRVDHYLGKQAVAQILPFRDQNRKALDGLWNRHHVERVEIIMKETVDAEGRTSFYEEYGVIRDVLQNHLTEVLTLVAMELPHNVSSAEAVLRHKLQVFQALRGLQRGSAVVGQYQSYSEQVRRELQKPDSFHSLTPTFAAVLVHIDNLRWEGVPFILMSGKALDERVGYARILFKNQACCVQSEKHWAAAQSQCLPRQLVFHIGHGDLGSPAVLVSRNLFRPSLPSSWKEMEGPPGLRLFGSPLSDYYAYSPVRERDAHSVLLSHIFHGRKNFFITTENLLASWNFWTPLLESLAHKAPRLYPGGAENGRLLDFEFSSGRLFFSQQQPEQLVPGPGPAPMPSDFQVLRAKYRESPLVSAWSEELISKLANDIEATAVRAVRRFGQFHLALSGGSSPVALFQQLATAHYGFPWAHTHLWLVDERCVPLSDPESNFQGLQAHLLQHVRIPYYNIHPMPVHLQQRLCAEEDQGAQIYAREISALVANSSFDLVLLGMGADGHTASLFPQSPTGLDGEQLVVLTTSPSQPHRRMSLSLPLINRAKKVAVLVMGRMKREITTLVSRVGHEPKKWPISGVLPHSGQLVWYMDYDAFLG", "length": 802, "header": "sp|O95479-2|G6PE_HUMAN Isoform 2 of GDH/6PGL endoplasmic bifunctional protein OS=Homo sapiens OX=9606 GN=H6PD PE=1 SV=2 CANONICAL=O95479-1" }, "locus": { "chromosome": "1", "start_pos": 9264866, "end_pos": 9239996, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000602477.1", "url": "https://www.ensembl.org/id/ENST00000602477.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000473348.1", "url": "https://www.ensembl.org/id/ENSP00000473348.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "1264", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1264" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "1264", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1264" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G60145BJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "1264", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1264" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "O95479", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "O95479", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95479#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 282, "start_aa": "Asn", "end_pos": 282, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "O95479", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 282, "start_aa": "Asn", "end_pos": 282, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "O95479", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 282, "start_aa": "Asn", "end_pos": 282, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "O95479", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95479#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 683, "start_aa": "Asn", "end_pos": 683, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn683", "evidence": [ { "id": "O95479", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95479#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95479", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95479" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Tumor cells express pauci- and oligomannosidic N-glycans in glycoproteins recognized by the mannose receptor (CD206)", "journal": "Cell Mol Life Sci", "date": "2021", "authors": "Stavenhagen K., Laan L.C., Gao C., Mehta A.Y., Heimburg-Molinaro J., Glickman J.N., van Die I., Cummings R.D.", "evidence": [ { "database": "UniCarbKB", "id": "O95479", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1007/s00018-021-03863-1", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "title": "Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression.", "journal": "Blood Cells Mol. Dis.", "date": "1999", "authors": "Mason P J, Stevens D, Diez A, Knight S W, Scopes D A, Vulliamy T J", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "reference": [ { "type": "PubMed", "id": "10349511", "url": "https://glygen.org/publication/PubMed/10349511" } ] }, { "title": "Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.", "journal": "Nature genetics", "date": "2003", "authors": "Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "reference": [ { "type": "PubMed", "id": "12858176", "url": "https://glygen.org/publication/PubMed/12858176" } ] }, { "title": "Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2008", "authors": "Lavery GG, Walker EA, Tiganescu A, Ride JP, Shackleton CH, Tomlinson JW, Connell JM, Ray DW, Biason-Lauber A, Malunowicz EM, Arlt W, Stewart PM", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "reference": [ { "type": "PubMed", "id": "18628520", "url": "https://glygen.org/publication/PubMed/18628520" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479#ptm_processing" }, { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.", "journal": "European journal of endocrinology", "date": "2013", "authors": "Lavery GG, Idkowiak J, Sherlock M, Bujalska I, Ride JP, Saqib K, Hartmann MF, Hughes B, Wudy SA, De Schepper J, Arlt W, Krone N, Shackleton CH, Walker EA, Stewart PM", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "reference": [ { "type": "PubMed", "id": "23132696", "url": "https://glygen.org/publication/PubMed/23132696" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Association Analysis between the Polymorphisms of HSD11B1 and H6PD and Risk of Polycystic Ovary Syndrome in Chinese Population.", "journal": "PloS one", "date": "2015", "authors": "Ju R, Wu W, Tang Q, Wu D, Xia Y, Wu J, Wang X", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" } ], "reference": [ { "type": "PubMed", "id": "26452272", "url": "https://glygen.org/publication/PubMed/26452272" } ] }, { "title": "Cortisol promotes endoplasmic glucose production via pyridine nucleotide redox.", "journal": "The Journal of endocrinology", "date": "2016", "authors": "Wang Z, Mick GJ, Xie R, Wang X, Xie X, Li G, McCormick KL", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" } ], "reference": [ { "type": "PubMed", "id": "26860459", "url": "https://glygen.org/publication/PubMed/26860459" } ] }, { "title": "Mutations in the tetramer interface of human glucose-6-phosphate dehydrogenase reveals kinetic differences between oligomeric states.", "journal": "FEBS letters", "date": "2017", "authors": "Ranzani AT, Cordeiro AT", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" } ], "reference": [ { "type": "PubMed", "id": "28370139", "url": "https://glygen.org/publication/PubMed/28370139" } ] }, { "title": "Hexose-6-phosphate dehydrogenase controls cancer cell proliferation and migration through pleiotropic effects on the unfolded-protein response, calcium homeostasis, and redox balance.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2018", "authors": "Tsachaki M, Mladenovic N, Stambergova H, Birk J, Odermatt A", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" } ], "reference": [ { "type": "PubMed", "id": "29295867", "url": "https://glygen.org/publication/PubMed/29295867" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O95479", "url": "" }, { "database": "GlyConnect", "id": "1264", "url": "https://glyconnect.expasy.org/browser/proteins/1264" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Tumor-suppressive microRNA-551b-3p targets H6PD to inhibit gallbladder cancer progression.", "journal": "Cancer gene therapy", "date": "2021", "authors": "Ji T, Gao L, Yu Z", "evidence": [ { "database": "RefSeq", "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276" } ], "reference": [ { "type": "PubMed", "id": "33250514", "url": "https://glygen.org/publication/PubMed/33250514" } ] }, { "title": "Tumor cells express pauci- and oligomannosidic N-glycans in glycoproteins recognized by the mannose receptor (CD206).", "journal": "Cellular and molecular life sciences : CMLS", "date": "2021", "authors": "Stavenhagen K, Laan LC, Gao C, Mehta AY, Heimburg-Molinaro J, Glickman JN, van Die I, Cummings RD", "evidence": [ { "database": "UniCarbKB", "id": "O95479", "url": "" } ], "reference": [ { "type": "PubMed", "id": "34089345", "url": "https://glygen.org/publication/PubMed/34089345" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95479", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95479" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "pathway": [ { "id": "hsa:9563", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9563", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I5ZNT3-1", "protein_name": "Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)", "gene_name": "H6pd", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "RCTGIWKMLVAAVCLALLGCLQAQEFRGHVSIILLGATGDLAKKYLWQGLFQLYLDEAGKGHSFSFHGAALTAPQQGQKLMDKALESLSCPKDLVPSRCDELKAQFLQLSQYRQLKTVEDYQTLNKDIETQVQQDGLWEAGRVFYFSVPPFAYADIARNINSSCRPHPGAWLRVVFEKPFGHDHLSAQQLASELGSFFQEEEMYRVDHYLGKQAVAQILPFRDQNRKALDGLWNRHHVERVEIILKETVDAGGRASFYEEYGVIRDTLQNHLTEILTLVAMELPPNISSSAAVLQHKLQAFQALRGLQKSNAILGQYQAYSGQVRQELQKPDGFQSLTPTFAGVLVHIDNLRWEGVPFILMSGKALDERVGYVRILFKNRAYCTQGERHWVPERSRCLPQQIVFYIGHGELGHPAILVSKNLFKPSLPAQSWKGVQDQPGLHLFGRPLSDYYAYRPVREQDAYSTLLSHIFHCRKESFITTENLLASWVFWTPLLDSLSFEVPRLYPGGAENDHLLDFEFSGGQLTFSQQQLEVLMPELGSVPKPSDFQVLRAQYRKSPLITAWPEELISKLANDIEAAAVQAVRRFGKFHLALSGGSSPIALFQQLATGHYSFPWAYTHLWLVDERCVPLSDPDSNFQGLQAHLLQHVRVPYYNIHPMPVHLHQRLCAEEDQGAQTYASEISALVANSSFDLVLLGMGTDGHTASLFPQSPRGLDGDQLVVLTESPFRPHQRMSLSLPLINRAKKVAVLVMGRTKREITTLVSRVGHEPKKWPISGVVPLSGQLVWYMDYEAFLG", "length": 796 }, "evidence": [ { "id": "45932576", "url": "http://www.informatics.jax.org/homology/45932576", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8CFX1-1", "protein_name": "GDH/6PGL endoplasmic bifunctional protein", "gene_name": "H6pd", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLLAAMCLALLGCLQAQELKGHVSIILLGATGDLAKKYLWQGLFQLYLDEAGKGHSFSFHGAALTAPQQGQKLMDKVLESLSCPKDLVPSRCDELKGQFLQLSQYRQLKTVEDYQTLNKDIETQVQQDGLWEAGRIFYFSVPPFAYADIARNINSSCRPHPGAWLRVVFEKPFGHDHLSAQQLASELGSFFQEEEMYRVDHYLGKQAVAQILPFRDQNRKALDGLWNRHHVERVEIILKETIDAEGRASFYEEYGVIRDTLQNHLTEILTLVAMELPLNISSSAAVLQHKLWAFQALRGLQKSSAILGQYQAYSGQVRRELQKPDGFQSLTPTFAGVLVHIDNLRWEGVPFILMSGKALDERVGYVRIVFKNRAYCTQSERHWVPEQSRCLPQQIIFYIGHGELGHPAILVSRNLFKPSLPTQKWKEVQDQPGLRLFGRPLSDYYAYRPVREQDAYSTLLSHIFHCRKESFITTENLLASWVFWTPLLDSLAFEVPRPYPGGAENGQLLDFEFSGGQLTFSQQQLEVLIPDLGSVPKPSDFQVLGARYRQSPLITAWPEELISKLASDIEAAAVQAVRHFGKFHLALSGGSSPIALFQQLATGHYSFPWAHTHLWLVDERCVPLSDPDSNFQGLQAHLLQHVRVPYYNIHPMPVHLHQRLCAEEDQGAQTYASEISALVANSSFDLVLLGMGTDGHTASLFPQSPTGLDGDQLVVLTESPFRPHQRMSLSLPLINRAKKVAVLVMGRTKREITTLVSRVGHEPKKWPISGVVPLSGQLVWYMDYEAFLG", "length": 789 }, "evidence": [ { "id": "45932576", "url": "http://www.informatics.jax.org/homology/45932576", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "response to alcohol", "id": "GO:0097305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097305", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "pentose-phosphate shunt, oxidative branch", "id": "GO:0009051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009051", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "regulation of cortisol biosynthetic process", "id": "GO:2000064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000064", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "6-phosphogluconolactonase activity", "id": "GO:0017057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017057", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "glucose-6-phosphate dehydrogenase activity", "id": "GO:0004345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004345", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "glucose 1-dehydrogenase [NAD(P)] activity", "id": "GO:0047936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047936", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "glucose 1-dehydrogenase (NAD+) activity", "id": "GO:0047934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047934", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" }, { "name": "glucose 1-dehydrogenase (NADP+) activity", "id": "GO:0047935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047935", "evidence": [ { "database": "UniProtKB", "id": "O95479", "url": "https://www.uniprot.org/uniprot/O95479" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 157, "end_pos": 159, "annotation": "n_glycosylation_sequon" }, { "start_pos": 282, "end_pos": 284, "annotation": "n_glycosylation_sequon" }, { "start_pos": 683, "end_pos": 685, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12556", "name": "", "equation": "6-phospho-D-glucono-1,5-lactone + H2O = 6-phospho-D-gluconate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P85971-1", "O95336-1", "O95479-1", "Q9CQ60-1", "Q8CFX1-1", "P38858-1", "P53315-1", "Q54CJ3-1", "Q9VZ64-1" ], "evidence": [ { "id": "12556", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12556" } ] }, { "id": "14293", "name": "", "equation": "D-glucose + NAD(+) = D-glucono-1,5-lactone + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95479-1", "Q8CFX1-1" ], "evidence": [ { "id": "14293", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14293" } ] }, { "id": "14405", "name": "", "equation": "D-glucose + NADP(+) = D-glucono-1,5-lactone + H(+) + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95479-1", "Q8CFX1-1" ], "evidence": [ { "id": "14405", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14405" } ] }, { "id": "15841", "name": "", "equation": "D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + H(+) + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05370-1", "P11413-1", "O95479-1", "Q8CFX1-1", "P97324-1", "Q00612-1", "P11412-1", "Q557D2-1", "P12646-1", "Q9VNW4-1" ], "evidence": [ { "id": "15841", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15841" } ] }, { "id": "38215", "name": "", "equation": "D-glucose 6-phosphate + NAD(+) = 6-phospho-D-glucono-1,5-lactone + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95479-1", "Q8CFX1-1" ], "evidence": [ { "id": "38215", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38215" } ] }, { "id": "62064", "name": "", "equation": "2-deoxy-D-glucose 6-phosphate + NAD(+) = 2-deoxy-6-phospho-D-glucono-1,5-lactone + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95479-1", "Q8CFX1-1" ], "evidence": [ { "id": "62064", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/62064" } ] }, { "id": "62068", "name": "", "equation": "2-deoxy-D-glucose 6-phosphate + NADP(+) = 2-deoxy-6-phospho-D-glucono-1,5-lactone + H(+) + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95479-1", "Q8CFX1-1" ], "evidence": [ { "id": "62068", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/62068" } ] }, { "id": "62072", "name": "", "equation": "D-galactose 6-phosphate + NADP(+) = 6-phospho-D-galactono-1,5-lactone + H(+) + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95479-1", "Q8CFX1-1" ], "evidence": [ { "id": "62072", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/62072" } ] }, { "id": "62076", "name": "", "equation": "D-galactose 6-phosphate + NAD(+) = 6-phospho-D-galactono-1,5-lactone + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95479-1", "Q8CFX1-1" ], "evidence": [ { "id": "62076", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/62076" } ] }, { "id": "62080", "name": "", "equation": "D-glucose 6-sulfate + NADP(+) = 6-sulfo-D-glucono-1,5-lactone + H(+) + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95479-1", "Q8CFX1-1" ], "evidence": [ { "id": "62080", "database": "Rhea", "url": 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