{ "uniprot_canonical_ac": "O15372-1", "uniprot_ac": "O15372", "uniprot_id": "EIF3H_HUMAN", "mass": { "chemical_mass": 39930.0, "monoisotopic_mass": 39930.0 }, "refseq": { "ac": "NP_003747", "name": "eukaryotic translation initiation factor 3 subunit H", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747" }, "gene_names": [ { "name": "EIF3H", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15372", "id": "O15372" }, { "name": "EIF3H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747", "id": "NP_003747" }, { "name": "EIF3S3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15372", "id": "O15372" }, { "name": "eIF3-gamma; eIF3-p40; EIF3S3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747", "id": "NP_003747" }, { "name": "hCG_20900", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15372", "id": "O15372" } ], "protein_names": [ { "name": "Eukaryotic translation initiation factor 3 subunit H", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15372" }, { "name": "Eukaryotic translation initiation factor 3 subunit 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15372" }, { "name": "eIF-3-gamma", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15372" }, { "name": "eIF3 p40 subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15372" }, { "name": "eIF3h", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15372" }, { "name": "eukaryotic translation initiation factor 3 subunit H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747", "id": "NP_003747" }, { "name": "eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD); eukaryotic translation initiation factor 3, subunit 3 (gamma, 40kD); eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa; eIF-3-gamma; eIF3 p40 subunit; eukaryotic translation initiation factor 3 subunit 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747", "id": "NP_003747" } ], "function": [ { "annotation": "Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression.", "evidence": [ { "database": "UniProtKB", "id": "B3KS98", "url": "https://www.uniprot.org/uniprot/B3KS98#function" }, { "database": "UniProtKB", "id": "MF_03007", "url": "https://www.uniprot.org/uniprot/MF_03007#function" }, { "database": "UniProtKB", "id": "O15372", "url": "https://www.uniprot.org/uniprot/O15372#function" }, { "database": "PubMed", "id": "17581632", "url": "https://glygen.org/publication/PubMed/17581632" }, { "database": "PubMed", "id": "27462815", "url": "https://glygen.org/publication/PubMed/27462815" }, { "database": "PubMed", "id": "25849773", "url": "https://glygen.org/publication/PubMed/25849773" } ] }, { "annotation": "EIF3H knockdown inhibits malignant melanoma through regulating cell proliferation, apoptosis and cell cycle.", "evidence": [ { "database": "RefSeq", "id": "NP_003747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747" }, { "database": "PubMed", "id": "33508274", "url": "https://glygen.org/publication/PubMed/33508274" } ] }, { "annotation": "EIF3H stabilizes CCND1 to promotes intrahepatic cholangiocarcinoma progression via Wnt/beta-catenin signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_003747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747" }, { "database": "PubMed", "id": "36350008", "url": "https://glygen.org/publication/PubMed/36350008" } ] }, { "annotation": "Gain of EIF3S3 was associated with poor cancer-specific survival in incidentally found prostate carcinomas.", "evidence": [ { "database": "RefSeq", "id": "NP_003747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747" }, { "database": "PubMed", "id": "11733359", "url": "https://glygen.org/publication/PubMed/11733359" } ] }, { "annotation": "Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_003747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747" }, { "database": "PubMed", "id": "37527660", "url": "https://glygen.org/publication/PubMed/37527660" } ] }, { "annotation": "The deubiquitinase EIF3H promotes hepatocellular carcinoma progression by stabilizing OGT and inhibiting ferroptosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747" }, { "database": "PubMed", "id": "37559097", "url": "https://glygen.org/publication/PubMed/37559097" } ] }, { "annotation": "The effect of miR-496 on eIF3h in lung invasive adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_003747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747" }, { "database": "PubMed", "id": "34038061", "url": "https://glygen.org/publication/PubMed/34038061" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs777162244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777162244" }, { "id": "rs777162244", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777162244" }, { "id": "rs777162244", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777162244" } ], "glycoeffect": [ 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"ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772115922" }, { "id": "rs772115922", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772115922" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 14, "end_pos": 14, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "8", "chr_pos": "116755757", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778048842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778048842" }, { "id": "rs778048842", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778048842" }, { "id": "rs778048842", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778048842" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 14, "end_pos": 14, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "8", "chr_pos": "116755758", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs540738471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540738471" }, { "id": "rs540738471", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs540738471" }, { "id": "rs540738471", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540738471" }, { "id": "rs540738471", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs540738471#frequency_tab" }, { "id": "rs540738471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs540738471" }, { "id": "rs753808300", "database": "dbSNP", "url": 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"http://gnomad.broadinstitute.org/awesome?query=rs768280495" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 339, "end_pos": 339, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "8", "chr_pos": "116645050", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G339", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000147677", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000147677" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.24", "present": "HIGH", "evidence": [ { "database": "Bgee", 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15372", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15372" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15372", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15372" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15372", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15372" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15372" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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}, { "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": 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"categories": [ "Protein Classification" ] }, { "id": "IPR045810", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045810", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8667", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8667", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603912", "url": "http://www.omim.org/entry/603912", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15372", "url": "https://www.nextprot.org/entry/NX_O15372", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15372", "url": "https://oglcnac.org/atlas/detail/O15372", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15372", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15372", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "371389at2759", "url": "http://www.orthodb.org/?query=371389at2759", "database": 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"http://purl.obolibrary.org/obo/PR_O15372", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-156827", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156827", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72649", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72649", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72689", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72702", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "B3KS98", "url": "https://www.uniprot.org/uniprot/B3KS98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B3KS98-1", "url": "https://www.uniprot.org/uniprot/B3KS98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFH0", "url": "https://www.uniprot.org/uniprot/E5RFH0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFH0-1", "url": "https://www.uniprot.org/uniprot/E5RFH0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFW7", "url": "https://www.uniprot.org/uniprot/E5RFW7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFW7-1", "url": "https://www.uniprot.org/uniprot/E5RFW7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGU4", "url": "https://www.uniprot.org/uniprot/E5RGU4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGU4-1", "url": "https://www.uniprot.org/uniprot/E5RGU4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RH59", "url": "https://www.uniprot.org/uniprot/E5RH59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RH59-1", "url": "https://www.uniprot.org/uniprot/E5RH59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHC7", "url": "https://www.uniprot.org/uniprot/E5RHC7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHC7-1", "url": "https://www.uniprot.org/uniprot/E5RHC7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJT0", "url": "https://www.uniprot.org/uniprot/E5RJT0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJT0-1", "url": "https://www.uniprot.org/uniprot/E5RJT0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15372", "url": "https://www.uniprot.org/uniprot/O15372", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15372-1", "url": "https://www.uniprot.org/uniprot/O15372-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLVVLKIIKHYQEEGQGTEVVQGVLLGLVVEDRLEITNCFPFPQHTEDDADFDEVQYQMEMMRSLRHVNIDHLHVGWYQSTYYGSFVTRALLDSQFSYQHAIEESVVLIYDPIKTAQGSLSLKAYRLTPKLMEVCKEKDFSPEALKKANITFEYMFEEVPIVIKNSHLINVLMWELEKKSAVADKHELLSLASSNHLGKNLQLLMDRVDEMSQDIVKYNTYMRNTSKQQQQKHQYQQRRQQENMQRQSRGEPPLPEEDLSKLFKPPQPPARMDSLLIAGQINTYCQNIKEFTAQNLGKLFMAQALQEYNN", "length": 352, "header": "sp|O15372-1|EIF3H_HUMAN Isoform 1 of Eukaryotic translation initiation factor 3 subunit H OS=Homo sapiens OX=9606 GN=EIF3H PE=1 SV=1 CANONICAL=O15372-1" }, "isoforms": [ { "isoform_ac": "B3KS98-1", "url": "", "sequence": { "sequence": "MYSRHAQRIPPGKKMASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLVVLKIIKHYQEEGQGTEVVQGVLLGLVVEDRLEITNCFPFPQHTEDDADFDEVQYQMEMMRSLRHVNIDHLHVGWYQSTYYGSFVTRALLDSQFSYQHAIEESVVLIYDPIKTAQGSLSLKAYRLTPKLMEVCKEKDFSPEALKKANITFEYMFEEVPIVIKNSHLINVLMWELEKKSAVADKHELLSLASSNHLGKNLQLLMDRVDEMSQDIVKYNTYMRNTSKQQQQKHQYQQRRQQENMQRQSRGEPPLPEEDLSKLFKPPQPPARMDSLLIAGQINTYCQNIKEFTAQNLGKLFMAQALQEYNN", "length": 366, "header": "tr|B3KS98-1|EIF3H_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit H OS=Homo sapiens OX=9606 GN=EIF3H PE=1 SV=1 CANONICAL=O15372-1" }, "locus": { "chromosome": "8", "start_pos": 116755993, "end_pos": 116645009, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000276682.8", "url": "https://www.ensembl.org/id/ENST00000276682.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000276682.4", "url": "https://www.ensembl.org/id/ENSP00000276682.4" } ] } }, { "isoform_ac": "E5RFH0-1", "url": "", "sequence": { "sequence": "MASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLVVLKIIKHYQEEGQGTEVVQGVLLGLVVEDRLEITNCFPFPQHTEDDADFDEGSFIVQHTSELRSLLLLSSIPLNVFQYQMEMMRSLRHVNIDHLHVGWYQSTYYGSFVTRALLDSQFSYQHAIEE", "length": 170, "header": "tr|E5RFH0-1|EIF3H_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit H OS=Homo sapiens OX=9606 GN=EIF3H PE=1 SV=1 CANONICAL=O15372-1" }, "locus": { "chromosome": "8", "start_pos": 116755797, "end_pos": 116658832, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522453.1", "url": "https://www.ensembl.org/id/ENST00000522453.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000428885.1", "url": "https://www.ensembl.org/id/ENSP00000428885.1" } ] } }, { "isoform_ac": "E5RFW7-1", "url": "", "sequence": { "sequence": "MYSRHAQRIPPGKKMASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLVVLKIIKHYQEEGQGTEVVQGVLLGLVVEDRLEITNCFP", "length": 97, "header": "tr|E5RFW7-1|EIF3H_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit H OS=Homo sapiens OX=9606 GN=EIF3H PE=1 SV=1 CANONICAL=O15372-1" }, "locus": { "chromosome": "8", "start_pos": 116755993, "end_pos": 116726056, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520813.1", "url": "https://www.ensembl.org/id/ENST00000520813.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000427908.1", "url": "https://www.ensembl.org/id/ENSP00000427908.1" } ] } }, { "isoform_ac": "E5RGU4-1", "url": "", "sequence": { "sequence": "MASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLFSGQVSSQKPFLDPPKVVLKIIKHYQEEGQGTEVVQGVLLGLVVEDRLEITNCFPFPQHTEDDADFDEVQYQMEMMRSLRHVNIDHLHVGWYQSTYYGSFVTRALLDSQFSYQHAIEESVVLIYDPIKTAQGSLSLKAYRLTPKLMEVCKEKDFSPEALKKANITFEYMFEEVPIVIKNSHLINVLMWELE", "length": 235, "header": "tr|E5RGU4-1|E5RGU4_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit H OS=Homo sapiens OX=9606 GN=EIF3H PE=1 SV=1 CANONICAL=O15372-1" }, "locus": { "chromosome": "8", "start_pos": 116755797, "end_pos": 116655906, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518995.5", "url": "https://www.ensembl.org/id/ENST00000518995.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428669.1", "url": "https://www.ensembl.org/id/ENSP00000428669.1" } ] } }, { "isoform_ac": "E5RH59-1", "url": "", "sequence": { "sequence": "MASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLGNAFKYVDRKYC", "length": 56, "header": "tr|E5RH59-1|EIF3H_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit H OS=Homo sapiens OX=9606 GN=EIF3H PE=1 SV=1 CANONICAL=O15372-1" }, "locus": { "chromosome": "8", "start_pos": 116755797, "end_pos": 116737252, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522800.5", "url": "https://www.ensembl.org/id/ENST00000522800.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429884.1", "url": "https://www.ensembl.org/id/ENSP00000429884.1" } ] } }, { "isoform_ac": "E5RHC7-1", "url": "", "sequence": { "sequence": "MASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLFS", "length": 46, "header": "tr|E5RHC7-1|EIF3H_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit H OS=Homo sapiens OX=9606 GN=EIF3H PE=1 SV=1 CANONICAL=O15372-1" }, "locus": { "chromosome": "8", "start_pos": 116755797, "end_pos": 116734349, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519046.5", "url": "https://www.ensembl.org/id/ENST00000519046.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430926.1", "url": "https://www.ensembl.org/id/ENSP00000430926.1" } ] } }, { "isoform_ac": "E5RJT0-1", "url": "", "sequence": { "sequence": "MALPSISFGVICQPLEKGTSTHRRRGTGLGGKGSRIWLDTKRVRFTRDSWVVMEASQERDPSWRVQYQMEMMRSLRHVNIDHLHVGWYQSTYYGSFVTRALLDSQFSYQHAIEESVVLIYDPIKTAQGSLSLKAYRLTPKLMEVCKEKDFSPEALKKANITFEYMFEEVPIVIKNSHLINVLMWELEKKSAVADKHELLSLASSNHLGKNLQLLMDRVDEMSQDIVKYNTYMRNTSKQQQQKHQ", "length": 244, "header": "tr|E5RJT0-1|EIF3H_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit H OS=Homo sapiens OX=9606 GN=EIF3H PE=1 SV=1 CANONICAL=O15372-1" }, "locus": { "chromosome": "8", "start_pos": 116755673, "end_pos": 116648806, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518949.5", "url": "https://www.ensembl.org/id/ENST00000518949.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428195.1", "url": "https://www.ensembl.org/id/ENSP00000428195.1" } ] } }, { "isoform_ac": "O15372-1", "url": "", "sequence": { "sequence": "MASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLVVLKIIKHYQEEGQGTEVVQGVLLGLVVEDRLEITNCFPFPQHTEDDADFDEVQYQMEMMRSLRHVNIDHLHVGWYQSTYYGSFVTRALLDSQFSYQHAIEESVVLIYDPIKTAQGSLSLKAYRLTPKLMEVCKEKDFSPEALKKANITFEYMFEEVPIVIKNSHLINVLMWELEKKSAVADKHELLSLASSNHLGKNLQLLMDRVDEMSQDIVKYNTYMRNTSKQQQQKHQYQQRRQQENMQRQSRGEPPLPEEDLSKLFKPPQPPARMDSLLIAGQINTYCQNIKEFTAQNLGKLFMAQALQEYNN", "length": 352, "header": "sp|O15372-1|EIF3H_HUMAN Isoform 1 of Eukaryotic translation initiation factor 3 subunit H OS=Homo sapiens OX=9606 GN=EIF3H PE=1 SV=1 CANONICAL=O15372-1" }, "locus": { "chromosome": "8", "start_pos": 116755797, "end_pos": 116645009, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521861.6", "url": "https://www.ensembl.org/id/ENST00000521861.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000429931.1", "url": "https://www.ensembl.org/id/ENSP00000429931.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 13, "start_aa": "Thr", "end_pos": 13, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr13", "evidence": [ { "id": "O15372", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15372" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O15372", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15372" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 14, "start_aa": "Ser", "end_pos": 14, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser14", "evidence": [ { "id": "O15372", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15372" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O15372", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15372" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 17, "start_aa": "Ser", "end_pos": 17, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser17", "evidence": [ { "id": "O15372", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15372" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O15372", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15372" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 18, "start_aa": "Thr", "end_pos": 18, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr18", "evidence": [ { "id": "O15372", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15372" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O15372", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15372" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15372", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15372" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Ser10" }, { "start_pos": 11, "end_pos": 11, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15372", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15372" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Thr11" }, { "start_pos": 183, "end_pos": 183, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15372", "url": "https://www.uniprot.org/uniprot/O15372" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "17322308", "url": "https://glygen.org/publication/PubMed/17322308" }, { "database": "iPTMnet", "id": "O15372", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15372" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O15372", "url": "http://phospho.elm.eu.org/byAccession/O15372.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18544531", "url": "https://glygen.org/publication/PubMed/18544531" } ], "site_lbl": "Ser183" }, { "start_pos": 31, "end_pos": 31, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15372", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15372" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ], "site_lbl": "Ser31" }, { "start_pos": 3, "end_pos": 3, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15372", "url": "https://www.uniprot.org/uniprot/O15372" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15372", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15372" } ], "site_lbl": "Ser3" }, { "start_pos": 8, "end_pos": 8, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15372", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15372" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Thr8" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Ded1p, a DEAD-box protein required for translation initiation in Saccharomyces cerevisiae, is an RNA helicase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Iost I, Dreyfus M, Linder P", "evidence": [ { "database": "Reactome", "id": "R-HSA-72702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72702" } ], "reference": [ { "type": "PubMed", "id": "10364207", "url": "https://glygen.org/publication/PubMed/10364207" } ] }, { "title": "The joining of ribosomal subunits in eukaryotes requires eIF5B.", "journal": "Nature", "date": "2000", "authors": "Pestova TV, Lomakin IB, Lee JH, Choi SK, Dever TE, Hellen CU", "evidence": [ { "database": "Reactome", "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706" } ], "reference": [ { "type": "PubMed", "id": "10659855", "url": "https://glygen.org/publication/PubMed/10659855" } ] }, { "title": "Purification and characterization of homogeneous initiation factor M2A from rabbit reticulocytes.", "journal": "The Journal of biological chemistry", "date": "1975", "authors": "Merrick WC, Kemper WM, Anderson WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706" } ], "reference": [ { "type": "PubMed", "id": "1095581", "url": "https://glygen.org/publication/PubMed/1095581" } ] }, { "title": "A multifactor complex of eukaryotic initiation factors, eIF1, eIF2, eIF3, eIF5, and initiator tRNA(Met) is an important translation initiation intermediate in vivo.", "journal": "Genes & development", "date": "2000", "authors": "Asano K, Clayton J, Shalev A, Hinnebusch AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706" } ], "reference": [ { "type": "PubMed", "id": "11018020", "url": "https://glygen.org/publication/PubMed/11018020" } ] }, { "title": "Binding of MET-TRNAf and GTP to homogeneous initiation factor MP.", "journal": "The Journal of biological chemistry", "date": "1975", "authors": "Safer B, Adams SL, Anderson WF, Merrick WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-72695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72695" } ], "reference": [ { "type": "PubMed", "id": "1104615", "url": "https://glygen.org/publication/PubMed/1104615" } ] }, { "title": "Amplification of EIF3S3 gene is associated with advanced stage in prostate cancer.", "journal": "The American journal of pathology", "date": "2001", "authors": "Saramaki O, Willi N, Bratt O, Gasser TC, Koivisto P, Nupponen NN, Bubendorf L, Visakorpi T", "evidence": [ { "database": "RefSeq", "id": "NP_003747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003747" } ], "reference": [ { "type": "PubMed", "id": "11733359", "url": "https://glygen.org/publication/PubMed/11733359" } ] }, { "title": "Mammalian translation initiation factor eIF1 functions with eIF1A and eIF3 in the formation of a stable 40 S preinitiation complex.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Majumdar R, Bandyopadhyay A, Maitra U", "evidence": [ { "database": "Reactome", "id": "R-HSA-72689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72689" } ], "reference": [ { "type": "PubMed", "id": "12493757", "url": "https://glygen.org/publication/PubMed/12493757" } ] }, { "title": "Transcript-selective translational silencing by gamma interferon is directed by a novel structural element in the ceruloplasmin mRNA 3' untranslated region.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Sampath P, Mazumder B, Seshadri V, Fox PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-156827", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156827" } ], "reference": [ { "type": "PubMed", "id": "12588972", "url": "https://glygen.org/publication/PubMed/12588972" } ] }, { "title": "Regulated release of L13a from the 60S ribosomal subunit as a mechanism of transcript-specific translational control.", "journal": "Cell", "date": "2003", "authors": "Mazumder B, Sampath P, Seshadri V, Maitra RK, DiCorleto PE, Fox PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-156827", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156827" } ], "reference": [ { "type": "PubMed", "id": "14567916", "url": "https://glygen.org/publication/PubMed/14567916" } ] }, { "title": "Binding of eukaryotic initiation factor 3 to ribosomal 40S subunits and its role in ribosomal dissociation and anti-association.", "journal": "RNA", "date": "2005", "authors": "Kolupaeva VG, Unbehaun A, Lomakin IB, Hellen CU, Pestova TV", "evidence": [ { "database": "UniProtKB", "id": "O15372", "url": "https://www.uniprot.org/uniprot/O15372" } ], "reference": [ { "type": "PubMed", "id": "15703437", "url": "https://glygen.org/publication/PubMed/15703437" } ] }, { "title": "mTOR and S6K1 mediate assembly of the translation preinitiation complex through dynamic protein interchange and ordered phosphorylation events.", "journal": "Cell", "date": "2005", "authors": "Holz MK, Ballif BA, Gygi SP, Blenis J", "evidence": [ { "database": "UniProtKB", "id": "O15372", "url": "https://www.uniprot.org/uniprot/O15372" } ], "reference": [ { "type": "PubMed", "id": "16286006", "url": "https://glygen.org/publication/PubMed/16286006" } ] }, { "title": "Structural roles for human translation factor eIF3 in initiation of protein synthesis.", "journal": "Science", "date": "2005", "authors": "Siridechadilok Bunpote, Fraser Christopher S, Hall Richard J, Doudna Jennifer A, Nogales Eva", "evidence": [ { "database": "UniProtKB", "id": "O15372", "url": "https://www.uniprot.org/uniprot/O15372" } ], "reference": [ { "type": "PubMed", "id": "16322461", "url": "https://glygen.org/publication/PubMed/16322461" } ] }, { "title": "Translation initiation factor eIF4G-1 binds to eIF3 through the eIF3e subunit.", "journal": "J. Biol. 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