{ "uniprot_canonical_ac": "O75616-1", "uniprot_ac": "O75616", "uniprot_id": "ERAL1_HUMAN", "mass": { "chemical_mass": 48350.0, "monoisotopic_mass": 48350.0 }, "refseq": { "ac": "NP_001304914", "name": "GTPase Era, mitochondrial isoform 2", "summary": "The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914" }, "gene_names": [ { "name": "ERAL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75616", "id": "O75616" }, { "name": "CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA; HERA-A; HERA-B; PRLTS6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914", "id": "NP_001304914" }, { "name": "ERAL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914", "id": "NP_001304914" }, { "name": "HERA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75616", "id": "O75616" } ], "protein_names": [ { "name": "GTPase Era, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75616" }, { "name": "CEGA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75616" }, { "name": "Conserved ERA-like GTPase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75616" }, { "name": "ERA-W", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75616" }, { "name": "ERA-like protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75616" }, { "name": "GTPase Era, mitochondrial isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914", "id": "NP_001304914" }, { "name": "GTPase, human homolog of E. coli essential cell cycle protein Era; era (E. coli G-protein homolog)-like 1; GTP-binding protein era homolog; GTPase Era, mitochondrial; conserved ERA-like GTPase; ERA-like protein 1; Era G-protein-like 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914", "id": "NP_001304914" }, { "name": "H-ERA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75616" }, { "name": "hERA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75616" } ], "function": [ { "annotation": "Data show that loss of ERAL1 leads to rapid decay of nascent 12S mt-rRNA, consistent with a role as a mitochondrial RNA chaperone.", "evidence": [ { "database": "RefSeq", "id": "NP_001304914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914" }, { "database": "PubMed", "id": "20604745", "url": "https://glygen.org/publication/PubMed/20604745" } ] }, { "annotation": "Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly.", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616#function" }, { "database": "PubMed", "id": "28449065", "url": "https://glygen.org/publication/PubMed/28449065" }, { "database": "PubMed", "id": "20430825", "url": "https://glygen.org/publication/PubMed/20430825" }, { "database": "PubMed", "id": "20604745", "url": "https://glygen.org/publication/PubMed/20604745" }, { "database": "UniProtKB", "id": "J3QSB2", "url": "https://www.uniprot.org/uniprot/J3QSB2#function" }, { "database": "UniProtKB", "id": "ARBA00025227", "url": "https://www.uniprot.org/uniprot/ARBA00025227#function" }, { "database": "UniProtKB", "id": "J3QRV9", "url": "https://www.uniprot.org/uniprot/J3QRV9#function" } ] }, { "annotation": "The mitochondrial protein ERAL1 suppresses RNA virus infection by facilitating RIG-I-like receptor signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_001304914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914" }, { "database": "PubMed", "id": "33472079", "url": "https://glygen.org/publication/PubMed/33472079" } ] }, { "annotation": "The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001304914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914" } ] }, { "annotation": "Three women from three different families presented with signs of PS, including deafness and ovarian dysgenesis. We employed exome sequencing and identified a homozygous missense mutation in the ERAL1 gene, c.707A > T. The mutation leads to a damaging p.Asn236Ile substitution that is likely to interfere with the GTP binding capacity of the ERAL1 protein.", "evidence": [ { "database": "RefSeq", "id": "NP_001304914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914" }, { "database": "PubMed", "id": "28449065", "url": "https://glygen.org/publication/PubMed/28449065" } ] } ], "disease": [ { "disease_id": "DOID:0080256", "recommended_name": { "id": "DOID:0080256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080256", "name": "Perrault syndrome 6", "description": "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11." }, "synonyms": [ { "id": "MONDO:0033047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033047", "name": "Perrault syndrome 6", "description": "" }, { "id": "MONDO:0033047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033047", "name": "Perrault syndrome 6", "description": "" }, { "id": "MONDO:0033047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033047", "name": "PRLTS6", "description": "" }, { "id": "MIM:617565", "resource": "MIM", "url": "https://www.omim.org/entry/617565", "name": "Perrault syndrome 6", "description": "Perrault syndrome 6" } ], "evidence": [ { "id": "617565", "database": "MIM", "url": "https://www.omim.org/entry/617565" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "67.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "59.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132591", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132591" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75616", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75616" } ], "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" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75616", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75616" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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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": "O75616", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75616" } ], "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/O75616" } ], "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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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"MAAPSWRGARLVQSVLRVWQVGPHVARERVIPFSSLLGFQRRCVSCVAGSAFSGPRLASASRSNGQGSALDHFLGFSQPDSSVTPCVPAVSMNRDEQDVLLVHHPDMPENSRVLRVVLLGAPNAGKSTLSNQLLGRKVFPVSRKVHTTRCQALGVITEKETQVILLDTPGIISPGKQKRHHLELSLLEDPWKSMESADLVVVLVDVSDKWTRNQLSPQLLRCLTKYSQIPSVLVMNKVDCLKQKSVLLELTAALTEGVVNGKKLKMRQAFHSHPGTHCPSPAVKDPNTQSVGNPQRIGWPHFKEIFMLSALSQEDVKTLKQYLLTQAQPGPWEYHSAVLTSQTPEEICANIIREKLLEHLPQEVPYNVQQKTAVWEEGPGGELVIQQKLLVPKESYVKLLIGPKGHVISQIAQEAGHDLMDIFLCDVDIRLSVKLLK", "length": 437, "header": "sp|O75616-1|ERAL1_HUMAN Isoform 1 of GTPase Era, mitochondrial OS=Homo sapiens OX=9606 GN=ERAL1 PE=1 SV=2 CANONICAL=O75616-1" }, "isoforms": [ { "isoform_ac": "J3QRV9-1", "url": "", "sequence": { "sequence": "XSWRGARLVQSVLRVWQVGPHVARERVIPFSSLLGFQRRCVSCVAGSAFSGPRLASASRSNGQGSALDHFLGFSQPDSSVTPCVPAVSMNRDEQDVLLVHHPDMPENSRVLRVVLLGAPNAGKSTLSNQLLGRKVFPVSRKVHTTRCQALGVITEKETQVILLDTPGIISPGKQKRHHLELSLLEDPWKSMESADLVVVLVDVSDKWTRNQLSPQLLRCLTKYSQIPSVLVMNKQYLLTQAQPGPWEYHSAVLTSQTPEEICANIIREKLLEHLPQEVPYNVQQ", "length": 284, "header": "tr|J3QRV9-1|J3QRV9_HUMAN Computationally mapped isoform of GTPase Era, mitochondrial OS=Homo sapiens OX=9606 GN=ERAL1 PE=1 SV=2 CANONICAL=O75616-1" }, "locus": { "chromosome": "17", "start_pos": 28859113, "end_pos": 28855046, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580917.2", "url": "https://www.ensembl.org/id/ENST00000580917.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000464402.2", "url": "https://www.ensembl.org/id/ENSP00000464402.2" } ] } }, { "isoform_ac": "J3QSB2-1", "url": "", "sequence": { "sequence": "XAAPSWRGARLVQSVLRVWQVGPHVARERVIPFSSLLGFQRRCVSCVAGSAFSGPRLASASRSNGQGSALDHFLGFSQPDSSVTPCVPAVSMNRDEQDVLLVHHPDMPENSRVLRVVLLGAPNAGKSTLSNQLLGRKVFPVSRKVHTTRCQALGVITEKETQVILLDTPGIISPGKQKRHHLELSLLEDPWKSMESADLVVVLVDVSDKWTRNQLSPQLLRCLTKYSQIPSVLVMNKVDCLKQKSVLLELTAALTEAIPSDTGPARALGVPQCSPH", "length": 276, "header": "tr|J3QSB2-1|J3QSB2_HUMAN Computationally mapped isoform of GTPase Era, mitochondrial OS=Homo sapiens OX=9606 GN=ERAL1 PE=1 SV=1 CANONICAL=O75616-1" }, "locus": { "chromosome": "17", "start_pos": 28859023, "end_pos": 28855036, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461894.5", "url": "https://www.ensembl.org/id/ENST00000461894.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464607.1", "url": "https://www.ensembl.org/id/ENSP00000464607.1" } ] } }, { "isoform_ac": "J3QT61-1", "url": "", "sequence": { "sequence": "MAAPSWRGARLVQSVLRVWQVGPHVARERVIPFSSLLGFQRRCVSCVAGSAFSGPRLASASRSNGQGSALDHFLGFSQPDSSVTPCVPAVSMNRDEQDVLLVHHPDMPENSRVLRVVLLGAPNAGKSTLSNQLLGRKVFPVSRKVHTTRCQALGVITEKETQVVGTYKGSP", "length": 171, "header": "tr|J3QT61-1|J3QT61_HUMAN Computationally mapped isoform of Era like 12S mitochondrial rRNA chaperone 1 OS=Homo sapiens OX=9606 GN=ERAL1 PE=1 SV=1 CANONICAL=O75616-1" }, "locus": { "chromosome": "17", "start_pos": 28856606, "end_pos": 28855035, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412138.6", "url": "https://www.ensembl.org/id/ENST00000412138.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000396125.2", "url": "https://www.ensembl.org/id/ENSP00000396125.2" } ] } }, { "isoform_ac": "K7EQJ8-1", "url": "", "sequence": { "sequence": "QPGPWEYHSAVLTSQTPEEICANIIREKLLEHLPQEVPYNVQQKTAVWEEGPGGELVIQQKLLVPKESYVGIPAQAAGRN", "length": 80, "header": "tr|K7EQJ8-1|K7EQJ8_HUMAN Computationally mapped isoform of Era like 12S mitochondrial rRNA chaperone 1 OS=Homo sapiens OX=9606 GN=ERAL1 PE=1 SV=1 CANONICAL=O75616-1" }, "locus": { "chromosome": "17", "start_pos": 28860606, "end_pos": 28858985, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583487.1", "url": "https://www.ensembl.org/id/ENST00000583487.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467860.1", "url": "https://www.ensembl.org/id/ENSP00000467860.1" } ] } }, { "isoform_ac": "O75616-1", "url": "", "sequence": { "sequence": "MAAPSWRGARLVQSVLRVWQVGPHVARERVIPFSSLLGFQRRCVSCVAGSAFSGPRLASASRSNGQGSALDHFLGFSQPDSSVTPCVPAVSMNRDEQDVLLVHHPDMPENSRVLRVVLLGAPNAGKSTLSNQLLGRKVFPVSRKVHTTRCQALGVITEKETQVILLDTPGIISPGKQKRHHLELSLLEDPWKSMESADLVVVLVDVSDKWTRNQLSPQLLRCLTKYSQIPSVLVMNKVDCLKQKSVLLELTAALTEGVVNGKKLKMRQAFHSHPGTHCPSPAVKDPNTQSVGNPQRIGWPHFKEIFMLSALSQEDVKTLKQYLLTQAQPGPWEYHSAVLTSQTPEEICANIIREKLLEHLPQEVPYNVQQKTAVWEEGPGGELVIQQKLLVPKESYVKLLIGPKGHVISQIAQEAGHDLMDIFLCDVDIRLSVKLLK", "length": 437, "header": "sp|O75616-1|ERAL1_HUMAN Isoform 1 of GTPase Era, mitochondrial OS=Homo sapiens OX=9606 GN=ERAL1 PE=1 SV=2 CANONICAL=O75616-1" }, "locus": { "chromosome": "17", "start_pos": 28860550, "end_pos": 28855035, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000254928.10", "url": "https://www.ensembl.org/id/ENST00000254928.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000254928.5", "url": "https://www.ensembl.org/id/ENSP00000254928.5" } ] } }, { "isoform_ac": "O75616-2", "url": "", "sequence": { "sequence": "MAAPSWRGARLVQSVLRVWQVGPHVARERVIPFSSLLGFQRRCVSCVAGSAFSGPRLASASRSNGQGSALDHFLGFSQPDSSVTPCVPAVSMNRDEQDVLLVHHPDMPENSRVLRVVLLGAPNAGKSTLSNQLLGRKVFPVSRKVHTTRCQALGVITEKETQVILLDTPGIISPGKQKRHHLELSLLEDPWKSMESADLVVVLVDVSDKWTRNQLSPQLLRCLTKYSQIPSVLVMNKVDCLKQKSVLLELTAALTEAIPSDTGPARALGVPQCSPH", "length": 276, "header": "sp|O75616-2|ERAL1_HUMAN Isoform 2 of GTPase Era, mitochondrial OS=Homo sapiens OX=9606 GN=ERAL1 PE=1 SV=2 CANONICAL=O75616-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75616", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75616" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 173, "end_pos": 173, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75616", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75616" } ], "site_lbl": "Ser173" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.", "journal": "Genomics", "date": "2000", "authors": "Britton RA, Chen SM, Wallis D, Koeuth T, Powell BS, Shaffer LG, Largaespada D, Jenkins NA, Copeland NG, Court DL, Lupski JR", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616" } ], "reference": [ { "type": "PubMed", "id": "10945472", "url": "https://glygen.org/publication/PubMed/10945472" } ] }, { "title": "Mammalian homologue of E. coli Ras-like GTPase (ERA) is a possible apoptosis regulator with RNA binding activity.", "journal": "Genes Cells", "date": "2001", "authors": "Akiyama T, Gohda J, Shibata S, Nomura Y, Azuma S, Ohmori Y, Sugano S, Arai H, Yamamoto T, Inoue J", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616" } ], "reference": [ { "type": "PubMed", "id": "11733036", "url": "https://glygen.org/publication/PubMed/11733036" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Hillman R Tyler, Green Richard E, Brenner Steven E", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "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": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616" }, { "database": "iPTMnet", "id": "O75616-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75616-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "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": "ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation.", "journal": "Nucleic acids research", "date": "2010", "authors": "Uchiumi T, Ohgaki K, Yagi M, Aoki Y, Sakai A, Matsumoto S, Kang D", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616" } ], "reference": [ { "type": "PubMed", "id": "20430825", "url": "https://glygen.org/publication/PubMed/20430825" } ] }, { "title": "Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit.", "journal": "The Biochemical journal", "date": "2010", "authors": "Dennerlein S, Rozanska A, Wydro M, Chrzanowska-Lightowlers ZM, Lightowlers RN", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616" }, { "database": "RefSeq", "id": "NP_001304914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914" } ], "reference": [ { "type": "PubMed", "id": "20604745", "url": "https://glygen.org/publication/PubMed/20604745" } ] }, { "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": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616" }, { "database": "iPTMnet", "id": "O75616", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75616" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.", "journal": "Human molecular genetics", "date": "2017", "authors": "Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS", "evidence": [ { "database": "UniProtKB", "id": "O75616", "url": "https://www.uniprot.org/uniprot/O75616" }, { "database": "RefSeq", "id": "NP_001304914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914" } ], "reference": [ { "type": "PubMed", "id": "28449065", "url": "https://glygen.org/publication/PubMed/28449065" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75616", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75616" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "The mitochondrial protein ERAL1 suppresses RNA virus infection by facilitating RIG-I-like receptor signaling.", "journal": "Cell reports", "date": "2021", "authors": "Li S, Kuang M, Chen L, Li Y, Liu S, Du H, Cao L, You F", "evidence": [ { "database": "RefSeq", "id": "NP_001304914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914" } ], "reference": [ { "type": "PubMed", "id": "33472079", "url": "https://glygen.org/publication/PubMed/33472079" } ] }, { "title": "Identification and cloning of human mitochondrial translational release factor 1 and the ribosome recycling factor.", "journal": "Biochimica et biophysica acta", "date": "1998", "authors": "Zhang Y, Spremulli LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5419276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5419276" } ], "reference": [ { "type": "PubMed", "id": "9838146", "url": "https://glygen.org/publication/PubMed/9838146" } ] } ], "pathway": [ { "id": "hsa:26284", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:26284", "resource": "KEGG Pathway" }, { "id": "R-HSA-5368286", "name": "Mitochondrial translation initiation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5368286", "resource": "Reactome", "description": "Mitochondrial translation initiation" }, { "id": "R-HSA-5389840", "name": "Mitochondrial translation elongation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5389840", "resource": "Reactome", "description": "Mitochondrial 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], "common_name": "Pig" }, { "uniprot_canonical_ac": "Q5EBA0-1", "protein_name": "GTPase Era, mitochondrial", "gene_name": "Eral1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAPRRYFPGIVRALLGAWQVGSHAGREWVSPPGSLLGNHVRCVSCVVGATFSGPLLASASSRYGQDSALDRILGFPQPDSSLVPCVPAVSVHRDEQNLLLVHTPDMPENPRVLRVVLLGAPNAGKSTLSNQLLGRKVFPVSKKVHTTRCQALGVITEKETQVILLDTPGIISPVKQKRHHLELSLLEDPWKSMESADLVVVLVDVSDKWTRSRLSPQVLQCLTKFSQVPSILVLNKVDCLKQKSVLLELTAALTEGVVNGKMLNVRQAFRSRPSTHCPGPETEDPNTHAVRSPQRTGWPYFQEIFMLSALNNKDVNTLKQYLLTQAQPGPWEFHSGVLTSQTPEEICANKIREKLLEYLPEEVPYSVQQKTVIWEEGPSGELVIQQNLLVPKESHVRILIGQKGLLISQIAQEVSQDLMDIFLCDVLLRLSVKLLK", "length": 437 }, "evidence": [ { "id": "45926614", "url": "http://www.informatics.jax.org/homology/45926614", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CZU4-1", "protein_name": "GTPase Era, mitochondrial", "gene_name": "Eral1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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}, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": 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