{ "uniprot_canonical_ac": "O75818-1", "uniprot_ac": "O75818", "uniprot_id": "RPP40_HUMAN", "mass": { "chemical_mass": 41834.0, "monoisotopic_mass": 41834.0 }, "refseq": { "ac": "NP_001273061", "name": "ribonuclease P protein subunit p40 isoform b", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273061" }, "gene_names": [ { "name": "RPP40", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75818", "id": "O75818" }, { "name": "RNASEP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75818", "id": "O75818" }, { "name": "RPP40", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273061", "id": "NP_001273061" }, { "name": "bA428J1.3; RNASEP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273061", "id": "NP_001273061" }, { "name": "hCG_1783141", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75818", "id": "O75818" } ], "protein_names": [ { "name": "Ribonuclease P protein subunit p40", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75818" }, { "name": "RNase P subunit 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75818" }, { "name": "RNaseP protein p40", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75818" }, { "name": "ribonuclease P (40 kD); ribonuclease P, 40kD subunit; ribonuclease P1; ribonuclease P protein subunit p40; RNase P subunit 1; RNaseP protein p40; ribonuclease P/MRP 40kDa subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273061", "id": "NP_001273061" }, { "name": "ribonuclease P protein subunit p40 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273061", "id": "NP_001273061" } ], "function": [ { "annotation": "Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:9630247, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465).", "evidence": [ { "database": "UniProtKB", "id": "O75818", "url": "https://www.uniprot.org/uniprot/O75818#function" }, { "database": "PubMed", "id": "9630247", "url": "https://glygen.org/publication/PubMed/9630247" }, { "database": "PubMed", "id": "28115465", "url": "https://glygen.org/publication/PubMed/28115465" }, { "database": "PubMed", "id": "30454648", "url": "https://glygen.org/publication/PubMed/30454648" } ] }, { "annotation": "Data idenified two cleavage sites for RNase MRP/RNase P in the coding sequence of viperin mRNA.", "evidence": [ { "database": "RefSeq", "id": "NP_001273061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273061" }, { "database": "PubMed", "id": "21053045", "url": "https://glygen.org/publication/PubMed/21053045" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "64.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "58.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "77.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "71.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "57.65", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "70.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "77.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124787" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75818" } ], "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": "" 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"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, 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"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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75818" } ], "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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"ENST00000380051.7", "url": "https://www.ensembl.org/id/ENST00000380051.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000369391.2", "url": "https://www.ensembl.org/id/ENSP00000369391.2" } ] } }, { "isoform_ac": "O75818-2", "url": "", "sequence": { "sequence": "MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITPEFISTFIKKGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSKKYERISWSFKEKKPLKFDFLLAWHKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADSPVSWEKNEHGFRKGGEHLYNFVIFNNQDYWLQMAVGANDHCPP", "length": 340, "header": "sp|O75818-2|RPP40_HUMAN Isoform 2 of Ribonuclease P protein subunit p40 OS=Homo sapiens OX=9606 GN=RPP40 PE=1 SV=3 CANONICAL=O75818-1" }, "locus": { "chromosome": "6", "start_pos": 5004002, "end_pos": 4995081, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000319533.9", "url": "https://www.ensembl.org/id/ENST00000319533.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000317998.5", "url": "https://www.ensembl.org/id/ENSP00000317998.5" } ] } }, { "isoform_ac": "X6RLL4-1", "url": "", "sequence": { "sequence": "MNTGPYYFVKNLPLHELITPEFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSKKYERISWSFKEKKPLKFDFLLAWHKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADSPVSWEKNEHGFRKGGEHLYNFVIFNNQDYWLQMAVGANDHCPP", "length": 303, "header": "tr|X6RLL4-1|RPP40_HUMAN Computationally mapped isoform of Ribonuclease P protein subunit p40 OS=Homo sapiens OX=9606 GN=RPP40 PE=1 SV=1 CANONICAL=O75818-1" }, "locus": { "chromosome": "6", "start_pos": 5002188, "end_pos": 4995081, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464646.1", "url": "https://www.ensembl.org/id/ENST00000464646.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419431.1", "url": "https://www.ensembl.org/id/ENSP00000419431.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 118, "end_pos": 118, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75818", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75818" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser118" }, { "start_pos": 168, "end_pos": 168, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75818", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75818" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser168" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Localization in the nucleolus and coiled bodies of protein subunits of the ribonucleoprotein ribonuclease P.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Jarrous N, Wolenski JS, Wesolowski D, Lee C, Altman S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "10444065", "url": "https://glygen.org/publication/PubMed/10444065" } ] }, { "title": "Protein-RNA interactions in the subunits of human nuclear RNase P.", "journal": "RNA (New York, N.Y.)", "date": "2001", "authors": "Jiang T, Guerrier-Takada C, Altman S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "11455963", "url": "https://glygen.org/publication/PubMed/11455963" } ] }, { "title": "A eubacterial origin for the human tRNA nucleotidyltransferase?", "journal": "Biological chemistry", "date": "2001", "authors": "Reichert AS, Thurlow DL, Morl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "11727826", "url": "https://glygen.org/publication/PubMed/11727826" } ] }, { "title": "Human ribonuclease P: subunits, function, and intranuclear localization.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Jarrous N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "11871657", "url": "https://glygen.org/publication/PubMed/11871657" } ] }, { "title": "Isolation and proteomic characterization of the major proteins of the nucleolin-binding ribonucleoprotein complexes.", "journal": "Proteomics", "date": "2001", "authors": "Yanagida M, Shimamoto A, Nishikawa K, Furuichi Y, Isobe T, Takahashi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "11922599", "url": "https://glygen.org/publication/PubMed/11922599" } ] }, { "title": "A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis.", "journal": "Nature", "date": "2002", "authors": "Dragon F, Gallagher JE, Compagnone-Post PA, Mitchell BM, Porwancher KA, Wehner KA, Wormsley S, Settlage RE, Shabanowitz J, Osheim Y, Beyer AL, Hunt DF, Baserga SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "12068309", "url": "https://glygen.org/publication/PubMed/12068309" } ] }, { "title": "Steady-state nuclear localization of exportin-t involves RanGTP binding and two distinct nuclear pore complex interaction domains.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Kuersten S, Arts GJ, Walther TC, Englmeier L, Mattaj IW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "12138183", "url": "https://glygen.org/publication/PubMed/12138183" } ] }, { "title": "90S pre-ribosomes include the 35S pre-rRNA, the U3 snoRNP, and 40S subunit processing factors but predominantly lack 60S synthesis factors.", "journal": "Molecular cell", "date": "2002", "authors": "Grandi P, Rybin V, Bassler J, Petfalski E, Strauss D, Marzioch M, Schafer T, Kuster B, Tschochner H, Tollervey D, Gavin AC, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "12150911", "url": "https://glygen.org/publication/PubMed/12150911" } ] }, { "title": "Crystal structures of the Bacillus stearothermophilus CCA-adding enzyme and its complexes with ATP or CTP.", "journal": "Cell", "date": "2002", "authors": "Li F, Xiong Y, Wang J, Cho HD, Tomita K, Weiner AM, Steitz TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "12526808", "url": "https://glygen.org/publication/PubMed/12526808" } ] }, { "title": "A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease.", "journal": "Nucleic acids research", "date": "2003", "authors": "Takaku H, Minagawa A, Takagi M, Nashimoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "12711671", "url": "https://glygen.org/publication/PubMed/12711671" } ] }, { "title": "Crystal structure of the human CCA-adding enzyme: insights into template-independent polymerization.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Augustin MA, Reichert AS, Betat H, Huber R, Morl M, Steegborn C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "12729736", "url": "https://glygen.org/publication/PubMed/12729736" } ] }, { "title": "Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation.", "journal": "Cell", "date": "2004", "authors": "Paushkin SV, Patel M, Furia BS, Peltz SW, Trotta CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "15109492", "url": "https://glygen.org/publication/PubMed/15109492" } ] }, { "title": "The N-terminal half-domain of the long form of tRNase Z is required for the RNase 65 activity.", "journal": "Nucleic acids research", "date": "2004", "authors": "Takaku H, Minagawa A, Takagi M, Nashimoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "15317868", "url": "https://glygen.org/publication/PubMed/15317868" } ] }, { "title": "Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.", "journal": "The EMBO journal", "date": "2005", "authors": "Rouquette J, Choesmel V, Gleizes PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16037817", "url": "https://glygen.org/publication/PubMed/16037817" } ] }, { "title": "Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Holzel M, Rohrmoser M, Schlee M, Grimm T, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Hiddemann W, Bornkamm GW, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16043514", "url": "https://glygen.org/publication/PubMed/16043514" } ] }, { "title": "Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Yan H, Zareen N, Levinger L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "16361254", "url": "https://glygen.org/publication/PubMed/16361254" } ] }, { "title": "Cleavage of pre-tRNAs by the splicing endonuclease requires a composite active site.", "journal": "Nature", "date": "2006", "authors": "Trotta CR, Paushkin SV, Patel M, Li H, Peltz SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "16710424", "url": "https://glygen.org/publication/PubMed/16710424" } ] }, { "title": "Differential association of protein subunits with the human RNase MRP and RNase P complexes.", "journal": "RNA", "date": "2006", "authors": "Welting TJ, Kikkert BJ, van Venrooij WJ, Pruijn GJ", "evidence": [ { "database": "UniProtKB", "id": "O75818", "url": "https://www.uniprot.org/uniprot/O75818" } ], "reference": [ { "type": "PubMed", "id": "16723659", "url": "https://glygen.org/publication/PubMed/16723659" } ] }, { "title": "Dominant-negative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex.", "journal": "Nucleic acids research", "date": "2006", "authors": "Grimm T, Holzel M, Rohrmoser M, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16738141", "url": "https://glygen.org/publication/PubMed/16738141" } ] }, { "title": "The BRCT domain of mammalian Pes1 is crucial for nucleolar localization and rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Holzel M, Grimm T, Rohrmoser M, Malamoussi A, Harasim T, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" } ] }, { "title": "A splice variant of the human CCA-adding enzyme with modified activity.", "journal": "Journal of molecular biology", "date": "2007", "authors": "Lizano E, Schuster J, Muller M, Kelso J, Morl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "17204286", "url": "https://glygen.org/publication/PubMed/17204286" } ] }, { "title": "Interaction of immobilized human exportin-t with calf liver tRNA.", "journal": "RNA biology", "date": "2006", "authors": "Li S, Sprinzl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "17224653", "url": "https://glygen.org/publication/PubMed/17224653" } ] }, { "title": "Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Rohrmoser M, Holzel M, Grimm T, Malamoussi A, Harasim T, Orban M, Pfisterer I, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17353269", "url": "https://glygen.org/publication/PubMed/17353269" } ] }, { "title": "C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Schilders G, van Dijk E, Pruijn GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17412707", "url": "https://glygen.org/publication/PubMed/17412707" } ] }, { "title": "ISG20L2, a novel vertebrate nucleolar exoribonuclease involved in ribosome biogenesis.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "Coute Y, Kindbeiter K, Belin S, Dieckmann R, Duret L, Bezin L, Sanchez JC, Diaz JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "18065403", "url": "https://glygen.org/publication/PubMed/18065403" } ] }, { "title": "A comparative analysis of CCA-adding enzymes from human and E. coli: differences in CCA addition and tRNA 3'-end repair.", "journal": "Biochimie", "date": "2008", "authors": "Lizano E, Scheibe M, Rammelt C, Betat H, Morl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "18226598", "url": "https://glygen.org/publication/PubMed/18226598" } ] }, { "title": "Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Ansel KM, Pastor WA, Rath N, Lapan AD, Glasmacher E, Wolf C, Smith LC, Papadopoulou N, Lamperti ED, Tahiliani M, Ellwart JW, Shi Y, Kremmer E, Rao A, Heissmeyer V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "18438418", "url": "https://glygen.org/publication/PubMed/18438418" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O75818-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75818-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Functional analyses for tRNase Z variants: an aspartate and a histidine in the active site are essential for the catalytic activity.", "journal": "Biochimica et biophysica acta", "date": "2008", "authors": "Elbarbary RA, Takaku H, Nashimoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "18809514", "url": "https://glygen.org/publication/PubMed/18809514" } ] }, { "title": "RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme.", "journal": "Cell", "date": "2008", "authors": "Holzmann J, Frank P, Loffler E, Bennett KL, Gerner C, Rossmanith W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "18984158", "url": "https://glygen.org/publication/PubMed/18984158" } ] }, { "title": "Critical role of nucleostemin in pre-rRNA processing.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Romanova L, Grand A, Zhang L, Rayner S, Katoku-Kikyo N, Kellner S, Kikyo 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