{ "uniprot_canonical_ac": "O75394-1", "uniprot_ac": "O75394", "uniprot_id": "RM33_HUMAN", "mass": { "chemical_mass": 7619.0, "monoisotopic_mass": 7619.0 }, "refseq": { "ac": "NP_004882", "name": "large ribosomal subunit protein bL33m isoform a", "summary": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882" }, "gene_names": [ { "name": "MRPL33", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75394", "id": "O75394" }, { "name": "C2orf1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75394", "id": "O75394" }, { "name": "MRPL33", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882", "id": "NP_004882" }, { "name": "bL33m; C2orf1; L33mt; MRP-L33; RPL33L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882", "id": "NP_004882" } ], "protein_names": [ { "name": "Large ribosomal subunit protein bL33m", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75394" }, { "name": "39S ribosomal protein L33, mitochondrial; mitochondrial large ribosomal subunit protein bL33m", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882", "id": "NP_004882" }, { "name": "39S ribosomal protein L33, mitochondrial", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75394" }, { "name": "L33mt", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75394" }, { "name": "MRP-L33", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75394" }, { "name": "large ribosomal subunit protein bL33m isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882", "id": "NP_004882" } ], "function": [ { "annotation": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "annotation": "Study findings underscore the biological significance of MRPL33-L and hnRNPK in the tumor formation and identifies hnRNPK as a critical splicing regulator of MRPL33 pre-mRNA in cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882" }, { "database": "PubMed", "id": "28869607", "url": "https://glygen.org/publication/PubMed/28869607" } ] }, { "annotation": "Study revealed that isoforms S and L of MRPL33, which arise from alternative splicing, exhibited opposing roles in the chemoresponse to epirubicin in gastric cancer via the PI3K/AKT signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_004882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882" }, { "database": "PubMed", "id": "30816492", "url": "https://glygen.org/publication/PubMed/30816492" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1340344756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1340344756" }, { "id": "rs1340344756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1340344756" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4, "end_pos": 4, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "2", "chr_pos": "27771788", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000243147", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243147" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75394", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75394" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "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" 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"http://pfam.xfam.org/family/PF00471", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75394", "url": "https://pharos.nih.gov/targets/O75394", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75394", "url": "http://purl.obolibrary.org/obo/PR_O75394", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5368286", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5368286", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5389840", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5389840", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F8WF37", "url": "https://www.uniprot.org/uniprot/F8WF37", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WF37-1", "url": "https://www.uniprot.org/uniprot/F8WF37-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75394", "url": "https://www.uniprot.org/uniprot/O75394", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75394-1", "url": "https://www.uniprot.org/uniprot/O75394-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75394-2", "url": "https://www.uniprot.org/uniprot/O75394-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFLSAVFFAKSKSKNILVRMVSEAGTGFCFNTKRNRLREKLTLLHYDPVVKQRVLFVEKKKIRSL", "length": 65, "header": "sp|O75394-1|RM33_HUMAN Isoform 1 of Large ribosomal subunit protein bL33m OS=Homo sapiens OX=9606 GN=MRPL33 PE=1 SV=1 CANONICAL=O75394-1" }, "isoforms": [ { "isoform_ac": "F8WF37-1", "url": "", "sequence": { "sequence": "MFLSAVFFAKSKSKLWLWFLEDHRGEMSFSSHHIKGTYDQHDFLLMVLTLVTWLSGDLQVKLKCPQKWP", "length": 69, "header": "tr|F8WF37-1|F8WF37_HUMAN Computationally mapped isoform of Mitochondrial ribosomal protein L33 OS=Homo sapiens OX=9606 GN=MRPL33 PE=4 SV=1 CANONICAL=O75394-1" }, "locus": { "chromosome": "2", "start_pos": 27894575, "end_pos": 27771778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448427.1", "url": "https://www.ensembl.org/id/ENST00000448427.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000407385.1", "url": "https://www.ensembl.org/id/ENSP00000407385.1" } ] } }, { "isoform_ac": "O75394-1", "url": "", "sequence": { "sequence": "MFLSAVFFAKSKSKNILVRMVSEAGTGFCFNTKRNRLREKLTLLHYDPVVKQRVLFVEKKKIRSL", "length": 65, "header": "sp|O75394-1|RM33_HUMAN Isoform 1 of Large ribosomal subunit protein bL33m OS=Homo sapiens OX=9606 GN=MRPL33 PE=1 SV=1 CANONICAL=O75394-1" }, "locus": { "chromosome": "2", "start_pos": 27779479, "end_pos": 27771778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000296102.8", "url": "https://www.ensembl.org/id/ENST00000296102.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000296102.3", "url": "https://www.ensembl.org/id/ENSP00000296102.3" } ] } }, { "isoform_ac": "O75394-2", "url": "", "sequence": { "sequence": "MFLSAVFFAKSKSNETKSPLRGKEKNTLPLNGGLKMTLIYKEKTEGGDTDSEIL", "length": 54, "header": "sp|O75394-2|RM33_HUMAN Isoform 2 of Large ribosomal subunit protein bL33m OS=Homo sapiens OX=9606 GN=MRPL33 PE=1 SV=1 CANONICAL=O75394-1" }, "locus": { "chromosome": "2", "start_pos": 27779553, "end_pos": 27771778, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379666.7", "url": "https://www.ensembl.org/id/ENST00000379666.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000368988.3", "url": "https://www.ensembl.org/id/ENSP00000368988.3" } ] } } ], "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": 4, "start_aa": "Ser", "end_pos": 4, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser4", "evidence": [ { "id": "O75394", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75394" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "O75394", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75394" } ] } ], "phosphorylation": [ { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75394", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75394" }, { "database": "PubMed", "id": "27920218", "url": "" } ], "site_lbl": "Ser64" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders.", "journal": "Genomics", "date": "2001", "authors": "Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K, Tanaka T", "evidence": [ { "database": "UniProtKB", "id": "O75394", "url": "https://www.uniprot.org/uniprot/O75394" } ], "reference": [ { "type": "PubMed", "id": "11543634", "url": "https://glygen.org/publication/PubMed/11543634" } ] }, { "title": "Expression and characterization of isoform 1 of human mitochondrial elongation factor G.", "journal": "Protein expression and purification", "date": "2004", "authors": "Bhargava K, Templeton P, Spremulli LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5389840", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5389840" } ], "reference": [ { "type": "PubMed", "id": "15358359", "url": "https://glygen.org/publication/PubMed/15358359" } ] }, { "title": "mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG.", "journal": "Molecular cell", "date": "2007", "authors": "Soleimanpour-Lichaei HR, Kuhl I, Gaisne M, Passos JF, Wydro M, Rorbach J, Temperley R, Bonnefoy N, Tate W, Lightowlers R, Chrzanowska-Lightowlers Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "17803939", "url": "https://glygen.org/publication/PubMed/17803939" } ] }, { "title": "HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2008", "authors": "Nozaki Y, Matsunaga N, Ishizawa T, Ueda T, Takeuchi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "18429816", "url": "https://glygen.org/publication/PubMed/18429816" } ] }, { "title": "The human mitochondrial ribosome recycling factor is essential for cell viability.", "journal": "Nucleic acids research", "date": "2008", "authors": "Rorbach J, Richter R, Wessels HJ, Wydro M, Pekalski M, Farhoud M, Kuhl I, Gaisne M, Bonnefoy N, Smeitink JA, Lightowlers RN, Chrzanowska-Lightowlers ZM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "18782833", "url": "https://glygen.org/publication/PubMed/18782833" } ] }, { "title": "The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex.", "journal": "Biochimica et biophysica acta", "date": "2009", "authors": "Valente L, Shigi N, Suzuki T, Zeviani M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5389840", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5389840" } ], "reference": [ { "type": "PubMed", "id": "19524667", "url": "https://glygen.org/publication/PubMed/19524667" } ] }, { "title": "EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis.", "journal": "Molecular cell", "date": "2009", "authors": "Tsuboi M, Morita H, Nozaki Y, Akama K, Ueda T, Ito K, Nierhaus KH, Takeuchi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5389840", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5389840" } ], "reference": [ { "type": "PubMed", "id": "19716793", "url": "https://glygen.org/publication/PubMed/19716793" } ] }, { "title": "Hungry codons promote frameshifting in human mitochondrial ribosomes.", "journal": "Science (New York, N.Y.)", "date": "2010", "authors": "Temperley R, Richter R, Dennerlein S, Lightowlers RN, Chrzanowska-Lightowlers ZM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "20075246", "url": "https://glygen.org/publication/PubMed/20075246" } ] }, { "title": "A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome.", "journal": "The EMBO journal", "date": "2010", "authors": "Richter R, Rorbach J, Pajak A, Smith PM, Wessels HJ, Huynen MA, Smeitink JA, Lightowlers RN, Chrzanowska-Lightowlers ZM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "20186120", "url": "https://glygen.org/publication/PubMed/20186120" } ] }, { "title": "Bioinformatic, structural, and functional analyses support release factor-like MTRF1 as a protein able to decode nonstandard stop codons beginning with adenine in vertebrate mitochondria.", "journal": "RNA (New York, N.Y.)", "date": "2010", "authors": "Young DJ, Edgar CD, Murphy J, Fredebohm J, Poole ES, Tate WP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "20421313", "url": "https://glygen.org/publication/PubMed/20421313" } ] }, { "title": "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.", "journal": "PloS one", "date": "2010", "authors": "Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ", "evidence": [ { "database": "RefSeq", "id": "NP_004882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882" } ], "reference": [ { "type": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "title": "Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.", "journal": "Cell metabolism", "date": "2011", "authors": "Tucker EJ, Hershman SG, Kohrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, Mootha VK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5368286", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5368286" } ], "reference": [ { "type": "PubMed", "id": "21907147", "url": "https://glygen.org/publication/PubMed/21907147" } ] }, { "title": "Mechanism of protein biosynthesis in mammalian mitochondria.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Christian BE, Spremulli LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5389840", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5389840" } ], "reference": [ { "type": "PubMed", "id": "22172991", "url": "https://glygen.org/publication/PubMed/22172991" } ] }, { "title": "Purification and characterization of elongation factor G from bovine liver mitochondria.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Chung HK, Spremulli LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5389840", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5389840" } ], "reference": [ { "type": "PubMed", "id": "2250005", "url": "https://glygen.org/publication/PubMed/2250005" } ] }, { "title": "Structure based hypothesis of a mitochondrial ribosome rescue mechanism.", "journal": "Biology direct", "date": "2012", "authors": "Huynen MA, Duarte I, Chrzanowska-Lightowlers ZM, Nabuurs SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "22569235", "url": "https://glygen.org/publication/PubMed/22569235" } ] }, { "title": "Codon-reading specificities of mitochondrial release factors and translation termination at non-standard stop codons.", "journal": "Nature communications", "date": "2013", "authors": "Lind C, Sund J, Aqvist J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "24352605", "url": "https://glygen.org/publication/PubMed/24352605" } ] }, { "title": "Ribosome rescue and translation termination at non-standard stop codons by ICT1 in mammalian mitochondria.", "journal": "PLoS genetics", "date": "2014", "authors": "Akabane S, Ueda T, Nierhaus KH, Takeuchi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "25233460", "url": "https://glygen.org/publication/PubMed/25233460" } ] }, { "title": "Structure of the large ribosomal subunit from human mitochondria.", "journal": "Science", "date": "2014", "authors": "Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, Murshudov G, Scheres SHW, Ramakrishnan V", "evidence": [ { "database": "UniProtKB", "id": "O75394", "url": "https://www.uniprot.org/uniprot/O75394" } ], "reference": [ { "type": "PubMed", "id": "25278503", "url": "https://glygen.org/publication/PubMed/25278503" } ] }, { "title": "Ribosome. The structure of the human mitochondrial ribosome.", "journal": "Science", "date": "2015", "authors": "Amunts A, Brown A, Toots J, Scheres SHW, Ramakrishnan V", "evidence": [ { "database": "UniProtKB", "id": "O75394", "url": "https://www.uniprot.org/uniprot/O75394" } ], "reference": [ { "type": "PubMed", "id": "25838379", "url": "https://glygen.org/publication/PubMed/25838379" } ] }, { "title": "MRPL33 and its splicing regulator hnRNPK are required for mitochondria function and implicated in tumor progression.", "journal": "Oncogene", "date": "2018", "authors": "Liu L, Luo C, Luo Y, Chen L, Liu Y, Wang Y, Han J, Zhang Y, Wei N, Xie Z, Wu W, Wu G, Feng Y", "evidence": [ { "database": "RefSeq", "id": "NP_004882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882" } ], "reference": [ { "type": "PubMed", "id": "28869607", "url": "https://glygen.org/publication/PubMed/28869607" } ] }, { "title": "Structures of the human mitochondrial ribosome in native states of assembly.", "journal": "Nat. 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