{ "uniprot_canonical_ac": "P13667-1", "uniprot_ac": "P13667", "uniprot_id": "PDIA4_HUMAN", "mass": { "chemical_mass": 72932.0, "monoisotopic_mass": 72932.0 }, "refseq": { "ac": "NP_004902", "name": "protein disulfide-isomerase A4 isofrom 2 precursor", "summary": "This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" }, "gene_names": [ { "name": "PDIA4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13667", "id": "P13667" }, { "name": "ERP70", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13667", "id": "P13667" }, { "name": "ERP72", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13667", "id": "P13667" }, { "name": "ERp-72; ERP70; ERP72", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902", "id": "NP_004902" }, { "name": "PDIA4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902", "id": "NP_004902" } ], "protein_names": [ { "name": "Protein disulfide-isomerase A4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13667" }, { "name": "5.3.4.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13667" }, { "name": "ER protein 70", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13667" }, { "name": "ER protein 72", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13667" }, { "name": "ERp-72", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13667" }, { "name": "ERp70", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13667" }, { "name": "ERp72", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13667" }, { "name": "Endoplasmic reticulum resident protein 70", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13667" }, { "name": "Endoplasmic reticulum resident protein 72", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13667" }, { "name": "protein disulfide isomerase-associated 4; protein disulfide isomerase related protein (calcium-binding protein, intestinal-related); protein disulfide-isomerase A4; ER protein 70; ER protein 72; endoplasmic reticulum resident protein 70; endoplasmic reticulum resident protein 72; testicular tissue protein Li 137", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902", "id": "NP_004902" }, { "name": "protein disulfide-isomerase A4 isofrom 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902", "id": "NP_004902" } ], "function": [ { "annotation": "LncRNA FAM225B Regulates PDIA4-Mediated Ovarian Cancer Cell Invasion and Migration via Modulating Transcription Factor DDX17. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" }, { "database": "PubMed", "id": "37720188", "url": "https://glygen.org/publication/PubMed/37720188" } ] }, { "annotation": "PDIA4 Is a Host Factor Important for Lymphocytic Choriomeningitis Virus Infection. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" }, { "database": "PubMed", "id": "38140584", "url": "https://glygen.org/publication/PubMed/38140584" } ] }, { "annotation": "PDIA4 confers resistance to ferroptosis via induction of ATF4/SLC7A11 in renal cell carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" }, { "database": "PubMed", "id": "36906674", "url": "https://glygen.org/publication/PubMed/36906674" } ] }, { "annotation": "Protein disulfide isomerase family member 4 promotes triple-negative breast cancer tumorigenesis and radiotherapy resistance through JNK pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" }, { "database": "PubMed", "id": "38167446", "url": "https://glygen.org/publication/PubMed/38167446" } ] }, { "annotation": "Protein disulfide-isomerase A4 confers glioblastoma angiogenesis promotion capacity and resistance to anti-angiogenic therapy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" }, { "database": "PubMed", "id": "36997943", "url": "https://glygen.org/publication/PubMed/36997943" } ] }, { "annotation": "This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs761367368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761367368" }, { "id": "rs761367368", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761367368" }, { "id": "rs761367368", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761367368#frequency_tab" }, { "id": "rs761367368", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761367368" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 121, "end_pos": 121, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "7", "chr_pos": "149019106", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1016948664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1016948664" }, { "id": "rs1016948664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1016948664#frequency_tab" }, { "id": "rs1016948664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1016948664" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 135, "end_pos": 135, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "7", "chr_pos": "149019064", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766230670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766230670" }, { "id": "rs766230670", "database": "ExAC", "url": 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"o-glyco-site-loss" ], "start_pos": 565, "end_pos": 565, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YNS->NNS).", "chr_id": "7", "chr_pos": "149004039", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y565", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155660", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155660" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155660", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155660" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155660", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155660" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "91.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155660", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155660" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155660", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155660" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": 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"evidence": [ { "database": "Bgee", "id": "ENSG00000155660", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155660" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "88.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155660", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155660" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155660", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155660" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155660", "url": 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P13667", "url": "https://www.uniprot.org/uniprot/P13667" } ], "common_name": "Human" } ], "gene": [ { "name": "PDIA4", "url": "https://www.uniprot.org/uniprot/P13667", "locus": { "chromosome": "7", "start_pos": 149003062, "end_pos": 149028662, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000155660", "url": "https://www.ensembl.org/id/ENSG00000155660" } ] } } ], "crossref": [ { "id": "ENSG00000155660", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155660", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "5.3.4.1", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=5.3.4.1&UniProtAcc=P13667", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd02961", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02961", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd02995", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02995", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd03068", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03068", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd03073", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03073", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL4295717", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4295717", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "PDIA4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9601", "url": "https://www.ncbi.nlm.nih.gov/gene/9601", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "30167", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30167", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P13667", "url": "https://www.ebi.ac.uk/intact/interactors/id:P13667*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR005788", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005788", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005792", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005792", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013766", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013766", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017068", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017068", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017937", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017937", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036249", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036249", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041866", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041866", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9601", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9601", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "620018", "url": "http://www.omim.org/entry/620018", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P13667", "url": "https://www.nextprot.org/entry/NX_P13667", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P13667", "url": "https://oglcnac.org/atlas/detail/P13667", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "FRSKHEP", "url": "https://omabrowser.org/oma/group/FRSKHEP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5399045at2759", "url": "http://www.orthodb.org/?query=5399045at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR18929", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18929", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR18929:SF210", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18929:SF210", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3IDV", "url": "https://www.rcsb.org/structure/3IDV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00085", "url": "http://pfam.xfam.org/family/PF00085", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13848", "url": "http://pfam.xfam.org/family/PF13848", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13667", "url": "https://pharos.nih.gov/targets/P13667", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P13667", "url": "http://purl.obolibrary.org/obo/PR_P13667", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A499FI48", "url": "https://www.uniprot.org/uniprot/A0A499FI48", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A499FI48-1", "url": "https://www.uniprot.org/uniprot/A0A499FI48-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JMN9", "url": "https://www.uniprot.org/uniprot/C9JMN9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JMN9-1", "url": "https://www.uniprot.org/uniprot/C9JMN9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13667", "url": "https://www.uniprot.org/uniprot/P13667", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13667-1", "url": "https://www.uniprot.org/uniprot/P13667-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRPRKAFLLLLLLGLVQLLAVAGAEGPDEDSSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKIDATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCKKLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFLKDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQGSTQDSAIKDFVLKYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILDESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAKKYKGQKGLVIAKMDATANDVPSDRYKVEGFPTIYFAPSGDKKNPVKFEGGDRDLEHLSKFIEEHATKLSRTKEEL", "length": 645, "header": "sp|P13667-1|PDIA4_HUMAN Isoform 1 of Protein disulfide-isomerase A4 OS=Homo sapiens OX=9606 GN=PDIA4 PE=1 SV=2 CANONICAL=P13667-1" }, "isoforms": [ { "isoform_ac": "A0A499FI48-1", "url": "", "sequence": { "sequence": "MRPRKAFLLLLLLGLVQLLAVAGAEGPDEDSSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKIDATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCKKLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFLKDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQQGSTQDSAIKDFVLKYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILDESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAKKYKGQKGLVIAKMDATANDVPSDRYKVEGFPTIYFAPSGDKKNPVKFEGGDRDLEHLSKFIEEHATKLSRTKEEL", "length": 646, "header": "tr|A0A499FI48-1|A0A499FI48_HUMAN Computationally mapped isoform of Protein disulfide-isomerase OS=Homo sapiens OX=9606 GN=PDIA4 PE=1 SV=1 CANONICAL=P13667-1" }, "locus": { "chromosome": "7", "start_pos": 149028408, "end_pos": 149003797, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000286091.9", "url": "https://www.ensembl.org/id/ENST00000286091.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000286091.5", "url": "https://www.ensembl.org/id/ENSP00000286091.5" } ] } }, { "isoform_ac": "C9JMN9-1", "url": "", "sequence": { "sequence": "MRPRKAFLLLLLLGLVQLLAVAGAEGPDEDFRQVQANSRRTRPGSGKGEGEPLERRGEGVKKQVRVLWNSKHSFSKCDSSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKIDATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCKKLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFLKDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQQGSTQDSAIKDFVLKYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILDESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAKKYKGQKGLVIAKMDATANDVPSDRYKVEGFPTIYFAPSGDKKNPVKFEGGDRDLEHLSKFIEEHATKLSRTKEEL", "length": 694, "header": "tr|C9JMN9-1|C9JMN9_HUMAN Computationally mapped isoform of Protein disulfide-isomerase OS=Homo sapiens OX=9606 GN=PDIA4 PE=1 SV=2 CANONICAL=P13667-1" }, "locus": { "chromosome": "7", "start_pos": 149028408, "end_pos": 149003797, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413966.2", "url": "https://www.ensembl.org/id/ENST00000413966.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000408628.2", "url": "https://www.ensembl.org/id/ENSP00000408628.2" } ] } }, { "isoform_ac": "P13667-1", "url": "", "sequence": { "sequence": "MRPRKAFLLLLLLGLVQLLAVAGAEGPDEDSSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKIDATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCKKLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFLKDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQGSTQDSAIKDFVLKYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILDESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAKKYKGQKGLVIAKMDATANDVPSDRYKVEGFPTIYFAPSGDKKNPVKFEGGDRDLEHLSKFIEEHATKLSRTKEEL", "length": 645, "header": "sp|P13667-1|PDIA4_HUMAN Isoform 1 of Protein disulfide-isomerase A4 OS=Homo sapiens OX=9606 GN=PDIA4 PE=1 SV=2 CANONICAL=P13667-1" }, "locus": { "chromosome": "7", "start_pos": 149028408, "end_pos": 149003797, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652332.1", "url": "https://www.ensembl.org/id/ENST00000652332.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499129.1", "url": "https://www.ensembl.org/id/ENSP00000499129.1" } ] } } ], "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": 135, "start_aa": "Ser", "end_pos": 135, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser135", "evidence": [ { "id": "P13667", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P13667", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13667" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 139, "start_aa": "Thr", "end_pos": 139, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr139", "evidence": [ { "id": "P13667", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13667" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 250, "start_aa": "Ser", "end_pos": 250, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser250", "evidence": [ { "id": "P13667", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13667" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 254, "start_aa": "Thr", "end_pos": 254, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr254", "evidence": [ { "id": "P13667", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P13667", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13667" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 371, "start_aa": "Ser", "end_pos": 371, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser371", "evidence": [ { "id": "P13667", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P13667", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13667" } ] } ], "phosphorylation": [ { "start_pos": 379, "end_pos": 379, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13667", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13667" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser379" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins.", "journal": "Mol. Biol. Cell", "date": "2002", "authors": "Meunier Laurent, Usherwood Young-Kwang, Chung Kyung Tae, Hendershot Linda M", "evidence": [ { "database": "UniProtKB", "id": "P13667", "url": "https://www.uniprot.org/uniprot/P13667" } ], "reference": [ { "type": "PubMed", "id": "12475965", "url": "https://glygen.org/publication/PubMed/12475965" } ] }, { "title": "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.", "journal": "J. Proteome Res.", "date": "2003", "authors": "Basrur V, Yang F, Kushimoto T, Higashimoto Y, Yasumoto K, Valencia J, Muller J, Vieira WD, Watabe H, Shabanowitz J, Hearing VJ, Hunt DF, Appella E", "evidence": [ { "database": "UniProtKB", "id": "P13667", "url": "https://www.uniprot.org/uniprot/P13667" } ], "reference": [ { "type": "PubMed", "id": "12643545", "url": "https://glygen.org/publication/PubMed/12643545" } ] }, { "title": "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.", "journal": "J. Proteome Res.", "date": "2006", "authors": "Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF", "evidence": [ { "database": "UniProtKB", "id": "P13667", "url": "https://www.uniprot.org/uniprot/P13667" } ], "reference": [ { "type": "PubMed", "id": "17081065", "url": "https://glygen.org/publication/PubMed/17081065" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P13667", "url": "https://www.uniprot.org/uniprot/P13667" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P13667", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13667" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Structure of the catalytic a(0)a fragment of the protein disulfide isomerase ERp72.", "journal": "J. Mol. Biol.", "date": "2010", "authors": "Kozlov Guennadi, Azeroual Simon, Rosenauer Angelika, M\u00e4\u00e4tt\u00e4nen Pekka, Denisov Alexey Yu, Thomas David Y, Gehring Kalle", "evidence": [ { "database": "UniProtKB", "id": "P13667", "url": "https://www.uniprot.org/uniprot/P13667" } ], "reference": [ { "type": "PubMed", "id": "20600112", "url": "https://glygen.org/publication/PubMed/20600112" } ] }, { "title": "Diverse somatic mutation patterns and pathway alterations in human cancers.", "journal": "Nature", "date": "2010", "authors": "Kan Z, Jaiswal BS, Stinson J, Janakiraman V, Bhatt D, Stern HM, Yue P, Haverty PM, Bourgon R, Zheng J, Moorhead M, Chaudhuri S, Tomsho LP, Peters BA, Pujara K, Cordes S, Davis DP, Carlton VE, Yuan W, Li L, Wang W, Eigenbrot C, Kaminker JS, Eberhard DA, Waring P, Schuster SC, Modrusan Z, Zhang Z, Stokoe D, de Sauvage FJ, Faham M, Seshagiri S", "evidence": [ { "database": "dbSNP", "id": "rs375136880", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375136880" } ], "reference": [ { "type": "PubMed", "id": "20668451", "url": "https://glygen.org/publication/PubMed/20668451" } ] }, { "title": "Human deoxycytidine kinase. Sequence of cDNA clones and analysis of expression in cell lines with and without enzyme activity.", "journal": "J. Biol. Chem.", "date": "1989", "authors": "Huang SH, Tomich JM, Wu H, Jong A, Holcenberg J", "evidence": [ { "database": "UniProtKB", "id": "P13667", "url": "https://www.uniprot.org/uniprot/P13667" } ], "reference": [ { "type": "PubMed", "id": "2549034", "url": "https://glygen.org/publication/PubMed/2549034" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" }, { "database": "O-GlcNAc Atlas", "id": "P13667", "url": "https://oglcnac.org/atlas/detail/P13667" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13667" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "PDIA4 confers resistance to ferroptosis via induction of ATF4/SLC7A11 in renal cell carcinoma.", "journal": "Cell death & disease", "date": "2023", "authors": "Kang L, Wang D, Shen T, Liu X, Dai B, Zhou D, Shen H, Gong J, Li G, Hu Y, Wang P, Mi X, Zhang Y, Tan X", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" } ], "reference": [ { "type": "PubMed", "id": "36906674", "url": "https://glygen.org/publication/PubMed/36906674" } ] }, { "title": "Protein disulfide-isomerase A4 confers glioblastoma angiogenesis promotion capacity and resistance to anti-angiogenic therapy.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2023-03-30", "authors": "Tu Zewei, Wang Chong, Hu Qing, Tao Chuming, Fang Zhansheng, Lin Li, Lei Kunjian, Luo Min, Sheng Yilei, Long Xiaoyan, Li Jingying, Wu Lei, Huang Kai, Zhu Xingen", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" } ], "reference": [ { "type": "PubMed", "id": "36997943", "url": "https://glygen.org/publication/PubMed/36997943" } ] }, { "title": "LncRNA FAM225B Regulates PDIA4-Mediated Ovarian Cancer Cell Invasion and Migration via Modulating Transcription Factor DDX17.", "journal": "The breast journal", "date": "2023", "authors": "Yao Chanjiao, Zeng Lingjuan, Liu Qin, Qiu Xiaoxin, Chen Chunyan", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" } ], "reference": [ { "type": "PubMed", "id": "37720188", "url": "https://glygen.org/publication/PubMed/37720188" } ] }, { "title": "PDIA4 Is a Host Factor Important for Lymphocytic Choriomeningitis Virus Infection.", "journal": "Viruses", "date": "2023-11-29", "authors": "Xu Mengwei, Xu Huan, Wan Weiwei, Jian Xiaoqin, Jin Runming, Wang Lin, Wang Jingshi, Xiao Gengfu, Zhang Leike, Chen Hongbo, Wen Yuxi", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" } ], "reference": [ { "type": "PubMed", "id": "38140584", "url": "https://glygen.org/publication/PubMed/38140584" } ] }, { "title": "Protein disulfide isomerase family member 4 promotes triple-negative breast cancer tumorigenesis and radiotherapy resistance through JNK pathway.", "journal": "Breast cancer research : BCR", "date": "2024-01-02", "authors": "Tao Jinqiu, Xue Cailin, Cao Meng, Ye Jiahui, Sun Yulu, Chen Hao, Guan Yinan, Zhang Wenjie, Zhang Weijie, Yao Yongzhong", "evidence": [ { "database": "RefSeq", "id": "NP_004902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004902" } ], "reference": [ { "type": "PubMed", "id": "38167446", "url": "https://glygen.org/publication/PubMed/38167446" } ] } ], "pathway": [ { "id": "hsa:9601", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9601", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P08003-1", "protein_name": "Protein disulfide-isomerase A4", "gene_name": "Pdia4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKLRKAWLLVLLLALTQLLAAASAGDAHEDTSDTENATEEEEEEDDDDLEVKEENGVWVLNDGNFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIASTLKDNDPPIAVAKIDATSASMLASKFDVSGYPTIKILKKGQAVDYDGSRTQEEIVAKVREVSQPDWTPPPEVTLSLTKDNFDDVVNNADIILVEFYAPWCGHCKKLAPEYEKAAKELSKRSPPIPLAKVDATEQTDLAKRFDVSGYPTLKIFRKGRPFDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFLKDGDDVVIIGLFQGDGDPAYLQYQDAANNLREDYKFHHTFSPEIAKFLKVSLGKLVLTHPEKFQSKYEPRFHVMDVQGSTEASAIKDYVVKHALPLVGHRKTSNDAKRYSKRPLVVVYYSVDFSFDYRAATQFWRNKVLEVAKDFPEYTFAIADEEDYATEVKDLGLSESGEDVNAAILDESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDAIVMDPKKDVLIEFYAPWCGHCKQLEPIYTSLGKKYKGQKDLVIAKMDATANDITNDQYKVEGFPTIYFAPSGDKKNPIKFEGGNRDLEHLSKFIDEHATKRSRTKEEL", "length": 638 }, "evidence": [ { "id": "45928378", "url": "http://www.informatics.jax.org/homology/45928378", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P38659-1", "protein_name": "Protein disulfide-isomerase A4", "gene_name": "Pdia4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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