{ "uniprot_canonical_ac": "O43809-1", "uniprot_ac": "O43809", "uniprot_id": "CPSF5_HUMAN", "mass": { "chemical_mass": 26227.0, "monoisotopic_mass": 26227.0 }, "refseq": { "ac": "NP_008937", "name": "cleavage and polyadenylation specificity factor subunit 5", "summary": "The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" }, "gene_names": [ { "name": "NUDT21", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43809", "id": "O43809" }, { "name": "CFIM25; CPSF5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937", "id": "NP_008937" }, { "name": "CFIM25", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43809", "id": "O43809" }, { "name": "CPSF25", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43809", "id": "O43809" }, { "name": "CPSF5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43809", "id": "O43809" }, { "name": "NUDT21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937", "id": "NP_008937" } ], "protein_names": [ { "name": "Cleavage and polyadenylation specificity factor subunit 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43809" }, { "name": "CFIm25", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43809" }, { "name": "CPSF 25 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43809" }, { "name": "Cleavage and polyadenylation specificity factor 25 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43809" }, { "name": "Cleavage factor Im complex 25 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43809" }, { "name": "Nucleoside diphosphate-linked moiety X motif 21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43809" }, { "name": "Nudix hydrolase 21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43809" }, { "name": "Nudix motif 21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43809" }, { "name": "Pre-mRNA cleavage factor Im 68 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43809" }, { "name": "cleavage and polyadenylation specificity factor subunit 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937", "id": "NP_008937" }, { "name": "pre-mRNA cleavage factor Im (25kD); cleavage and polyadenylation specific factor 5, 25 kD subunit; cleavage factor Im complex 25 kDa subunit; cleavage and polyadenylation specific factor 5, 25 kDa; pre-mRNA cleavage factor Im, 25kD subunit; nudix motif 21; CPSF 25 kDa subunit; pre-mRNA cleavage factor Im 25 kDa subunit; nucleoside diphosphate-linked moiety X motif 21; cleavage and polyadenylation specificity factor 25 kDa subunit; nudix (nucleoside diphosphate linked moiety X)-type motif 21; pre-mRNA cleavage factor Im 68 kDa subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937", "id": "NP_008937" } ], "function": [ { "annotation": "A new pathway for the transformation of AML in MDS: APA mechanism regulated by NUDT21 and RUNX1.", "evidence": [ { "database": "RefSeq", "id": "NP_008937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" }, { "database": "PubMed", "id": "37498064", "url": "https://glygen.org/publication/PubMed/37498064" } ] }, { "annotation": "Alternative polyadenylation reprogramming of MORC2 induced by NUDT21 loss promotes KIRC carcinogenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" }, { "database": "PubMed", "id": "37737260", "url": "https://glygen.org/publication/PubMed/37737260" } ] }, { "annotation": "Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:9659921, PubMed:8626397, PubMed:14690600, PubMed:15937220, PubMed:17024186, PubMed:17098938, PubMed:29276085). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:9659921, PubMed:8626397, PubMed:14690600, PubMed:17024186). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation (PubMed:17098938, PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:17098938, PubMed:20695905, PubMed:29276085). NUDT21/CPSF5 activates indirectly the mRNA 3'-processing machinery by recruiting CPSF6 and/or CPSF7 (PubMed:29276085). Binds to 5'-UGUA-3' elements localized upstream of pA signals that act as enhancers of pre-mRNA 3'-end processing (PubMed:8626397, PubMed:14690600, PubMed:15169763, PubMed:17024186, PubMed:22813749, PubMed:20479262). The homodimer mediates simultaneous sequence-specific recognition of two 5'-UGUA-3' elements within the pre-mRNA (PubMed:20479262, PubMed:21295486). Plays a role in somatic cell fate transitions and pluripotency by regulating widespread changes in gene expression through an APA-dependent function (By similarity). Binds to chromatin (By similarity). Binds to, but does not hydrolyze mono- and di-adenosine nucleotides (PubMed:18445629).", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809#function" }, { "database": "PubMed", "id": "20695905", "url": "https://glygen.org/publication/PubMed/20695905" }, { "database": "PubMed", "id": "18445629", "url": "https://glygen.org/publication/PubMed/18445629" }, { "database": "PubMed", "id": "8626397", "url": "https://glygen.org/publication/PubMed/8626397" }, { "database": "PubMed", "id": "20479262", "url": "https://glygen.org/publication/PubMed/20479262" }, { "database": "PubMed", "id": "21295486", "url": "https://glygen.org/publication/PubMed/21295486" }, { "database": "PubMed", "id": "23187700", "url": "https://glygen.org/publication/PubMed/23187700" }, { "database": "PubMed", "id": "29276085", "url": "https://glygen.org/publication/PubMed/29276085" }, { "database": "PubMed", "id": "9659921", "url": "https://glygen.org/publication/PubMed/9659921" }, { "database": "PubMed", "id": "15937220", "url": "https://glygen.org/publication/PubMed/15937220" }, { "database": "PubMed", "id": "15169763", "url": "https://glygen.org/publication/PubMed/15169763" }, { "database": "PubMed", "id": "22813749", "url": "https://glygen.org/publication/PubMed/22813749" }, { "database": "PubMed", "id": "17024186", "url": "https://glygen.org/publication/PubMed/17024186" }, { "database": "UniProtKB", "id": "Q9CQF3", "url": "https://www.uniprot.org/uniprot/Q9CQF3#function" }, { "database": "PubMed", "id": "14690600", "url": "https://glygen.org/publication/PubMed/14690600" }, { "database": "PubMed", "id": "17098938", "url": "https://glygen.org/publication/PubMed/17098938" } ] }, { "annotation": "LINC00921 reduces lung cancer radiosensitivity by destabilizing NUDT21 and driving aberrant MED23 alternative polyadenylation.", "evidence": [ { "database": "RefSeq", "id": "NP_008937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" }, { "database": "PubMed", "id": "37999979", "url": "https://glygen.org/publication/PubMed/37999979" } ] }, { "annotation": "NUDT21 interacts with NDUFS2 to activate the PI3K/AKT pathway and promotes pancreatic cancer pathogenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" }, { "database": "PubMed", "id": "38195952", "url": "https://glygen.org/publication/PubMed/38195952" } ] }, { "annotation": "PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.", "evidence": [ { "database": "RefSeq", "id": "NP_008937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" }, { "database": "PubMed", "id": "37422193", "url": "https://glygen.org/publication/PubMed/37422193" } ] }, { "annotation": "The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_008937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 103, "end_pos": 103, "sequence_org": "F", "sequence_mut": "A", "comment": "Reduces affinity for UGUARNA by 99%.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "20479262", "url": "https://glygen.org/publication/PubMed/20479262" }, { "database": "PubMed", "id": "21295486", "url": "https://glygen.org/publication/PubMed/21295486" } ] }, { "start_pos": 103, "end_pos": 103, "sequence_org": "F", "sequence_mut": "W", "comment": "Reduces affinity for UGUARNA by over 90%.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "20479262", "url": "https://glygen.org/publication/PubMed/20479262" }, { "database": "PubMed", "id": "21295486", "url": "https://glygen.org/publication/PubMed/21295486" } ] }, { "start_pos": 154, "end_pos": 154, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces affinity for UGUARNA by 50%.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" } ] }, { "start_pos": 158, "end_pos": 158, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes interaction with CPSF6; when associated with A-160.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "21295486", "url": "https://glygen.org/publication/PubMed/21295486" } ] }, { "start_pos": 160, "end_pos": 160, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes interaction with CPSF6; when associated with A-158.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "21295486", "url": "https://glygen.org/publication/PubMed/21295486" } ] }, { "start_pos": 218, "end_pos": 218, "sequence_org": "L", "sequence_mut": "R", "comment": "Reduces interactions with CPSF6 and CPSF7 and decreases mRNA 3'-processing activity.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "29276085", "url": "https://glygen.org/publication/PubMed/29276085" } ] }, { "start_pos": 23, "end_pos": 23, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes acetylation.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "17172643", "url": "https://glygen.org/publication/PubMed/17172643" } ] }, { "start_pos": 29, "end_pos": 29, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on acetylation.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "17172643", "url": "https://glygen.org/publication/PubMed/17172643" } ] }, { "start_pos": 55, "end_pos": 55, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces affinity for UGUARNA by 88%.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "20479262", "url": "https://glygen.org/publication/PubMed/20479262" }, { "database": "PubMed", "id": "21295486", "url": "https://glygen.org/publication/PubMed/21295486" } ] }, { "start_pos": 63, "end_pos": 63, "sequence_org": "R", "sequence_mut": "S", "comment": "Reduces affinity for UGUARNA by 99%.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "20479262", "url": "https://glygen.org/publication/PubMed/20479262" }, { "database": "PubMed", "id": "21295486", "url": "https://glygen.org/publication/PubMed/21295486" } ] }, { "start_pos": 81, "end_pos": 81, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces affinity for UGUARNA by 12%.", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "20479262", "url": "https://glygen.org/publication/PubMed/20479262" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "86.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167005", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167005" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43809", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43809" } ], "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": "O43809", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43809" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43809", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43809" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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"Protein" ] }, { "id": "H3BV41", "url": "https://www.uniprot.org/uniprot/H3BV41", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BV41-1", "url": "https://www.uniprot.org/uniprot/H3BV41-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43809-1", "url": "https://www.uniprot.org/uniprot/O43809-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSVVPPNRSQTGWPRGVTQFGNKYIQQTKPLTLERTINLYPLTNYTFGTKEPLYEKDSSVAARFQRMREEFDKIGMRRTVEGVLIVHEHRLPHVLLLQLGTTFFKLPGGELNPGEDEVEGLKRLMTEILGRQDGVLQDWVIDDCIGNWWRPNFEPPQYPYIPAHITKPKEHKKLFLVQLQEKALFAVPKNYKLVAAPLFELYDNAPGYGPIISSLPQLLSRFNFIYN", "length": 227, "header": "sp|O43809-1|CPSF5_HUMAN Isoform 1 of Cleavage and polyadenylation specificity factor subunit 5 OS=Homo sapiens OX=9606 GN=NUDT21 PE=1 SV=1 CANONICAL=O43809-1" }, "isoforms": [ { "isoform_ac": "H3BND3-1", "url": "", "sequence": { "sequence": "MREEFDKIGMRRTVEGVLIVHEHRLPHVLLLQLGTTFFKLPGGELNPGEDEVEGLKRLMTEILGRQDGVLQDWVIDDCIGNWWRPNFEPPQYPYIPAHITKPKEHKKLFLVQLQEKALFAVPKNYKLVAAPLFELYDNAPGYGPIISSL", "length": 149, "header": "tr|H3BND3-1|CPSF5_HUMAN Computationally mapped isoform of Cleavage and polyadenylation specificity factor subunit 5 OS=Homo sapiens OX=9606 GN=NUDT21 PE=1 SV=8 CANONICAL=O43809-1" }, "locus": { "chromosome": "16", "start_pos": 56447907, "end_pos": 56434348, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566340.5", "url": "https://www.ensembl.org/id/ENST00000566340.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454790.1", "url": "https://www.ensembl.org/id/ENSP00000454790.1" } ] } }, { "isoform_ac": "H3BV41-1", "url": "", "sequence": { "sequence": "MREEFDKIGMRRTVEGVLIVHEHRLPHVLLLQLGTTFFKLPGGELNPGEDEVEGLKRLMTEILGRQDGVLQ", "length": 71, "header": "tr|H3BV41-1|H3BV41_HUMAN Computationally mapped isoform of Nudix hydrolase 21 OS=Homo sapiens OX=9606 GN=NUDT21 PE=1 SV=1 CANONICAL=O43809-1" }, "locus": { "chromosome": "16", "start_pos": 56447907, "end_pos": 56439717, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568822.1", "url": "https://www.ensembl.org/id/ENST00000568822.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457942.1", "url": "https://www.ensembl.org/id/ENSP00000457942.1" } ] } }, { "isoform_ac": "O43809-1", "url": "", "sequence": { "sequence": "MSVVPPNRSQTGWPRGVTQFGNKYIQQTKPLTLERTINLYPLTNYTFGTKEPLYEKDSSVAARFQRMREEFDKIGMRRTVEGVLIVHEHRLPHVLLLQLGTTFFKLPGGELNPGEDEVEGLKRLMTEILGRQDGVLQDWVIDDCIGNWWRPNFEPPQYPYIPAHITKPKEHKKLFLVQLQEKALFAVPKNYKLVAAPLFELYDNAPGYGPIISSLPQLLSRFNFIYN", "length": 227, "header": "sp|O43809-1|CPSF5_HUMAN Isoform 1 of Cleavage and polyadenylation specificity factor subunit 5 OS=Homo sapiens OX=9606 GN=NUDT21 PE=1 SV=1 CANONICAL=O43809-1" }, "locus": { "chromosome": "16", "start_pos": 56451202, "end_pos": 56432715, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000300291.10", "url": "https://www.ensembl.org/id/ENST00000300291.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000300291.5", "url": "https://www.ensembl.org/id/ENSP00000300291.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43809", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43809" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 101, "end_pos": 101, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43809", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43809" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr101" }, { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43809", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43809" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr102" }, { "start_pos": 40, "end_pos": 40, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "O43809", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43809" } ], "site_lbl": "Tyr40" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Formation of mRNA 3' ends in eukaryotes: mechanism, regulation, and interrelationships with other steps in mRNA synthesis.", "journal": "Microbiology and molecular biology reviews : MMBR", "date": "1999", "authors": "Zhao J, Hyman L, Moore C", "evidence": [ { "database": "Reactome", "id": "R-HSA-72187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72187" } ], "reference": [ { "type": "PubMed", "id": "10357856", "url": "https://glygen.org/publication/PubMed/10357856" } ] }, { "title": "3'-End processing of pre-mRNA in eukaryotes.", "journal": "FEMS microbiology reviews", "date": "1999", "authors": "Wahle E, Ruegsegger U", "evidence": [ { "database": "Reactome", "id": "R-HSA-72187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72187" } ], "reference": [ { "type": "PubMed", "id": "10371034", "url": "https://glygen.org/publication/PubMed/10371034" } ] }, { "title": "TREX is a conserved complex coupling transcription with messenger RNA export.", "journal": "Nature", "date": "2002", "authors": "Strasser K, Masuda S, Mason P, Pfannstiel J, Oppizzi M, Rodriguez-Navarro S, Rondon AG, Aguilera A, Struhl K, Reed R, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-72187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72187" } ], "reference": [ { "type": "PubMed", "id": "11979277", "url": "https://glygen.org/publication/PubMed/11979277" } ] }, { "title": "Molecular evidence that the eukaryotic THO/TREX complex is required for efficient transcription elongation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Rondon AG, Jimeno S, Garcia-Rubio M, Aguilera A", "evidence": [ { "database": "Reactome", "id": "R-HSA-72187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72187" } ], "reference": [ { "type": "PubMed", "id": "12871933", "url": "https://glygen.org/publication/PubMed/12871933" } ] }, { "title": "Association of polyadenylation cleavage factor I with U1 snRNP.", "journal": "RNA", "date": "2003", "authors": "Awasthi Sita, Alwine James C", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" } ], "reference": [ { "type": "PubMed", "id": "14561889", "url": "https://glygen.org/publication/PubMed/14561889" } ] }, { "title": "A mechanism for the regulation of pre-mRNA 3' processing by human cleavage factor Im.", "journal": "Molecular cell", "date": "2003", "authors": "Brown KM, Gilmartin GM", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" } ], "reference": [ { "type": "PubMed", "id": "14690600", "url": "https://glygen.org/publication/PubMed/14690600" } ] }, { "title": "Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Dettwiler S, Aringhieri C, Cardinale S, Keller W, Barabino SM", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" } ], "reference": [ { "type": "PubMed", "id": "15169763", "url": "https://glygen.org/publication/PubMed/15169763" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" }, { "database": "iPTMnet", "id": "O43809", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43809" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "Analysis of a noncanonical poly(A) site reveals a tripartite mechanism for vertebrate poly(A) site recognition.", "journal": "Genes & development", "date": "2005-06-01", "authors": "Venkataraman Krishnan, Brown Kirk M, Gilmartin Gregory M", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" } ], "reference": [ { "type": "PubMed", "id": "15937220", "url": "https://glygen.org/publication/PubMed/15937220" } ] }, { "title": "Recruitment of the human TREX complex to mRNA during splicing.", "journal": "Genes & development", "date": "2005", "authors": "Masuda S, Das R, Cheng H, Hurt E, Dorman N, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72187" } ], "reference": [ { "type": "PubMed", "id": "15998806", "url": "https://glygen.org/publication/PubMed/15998806" } ] }, { "title": "An interaction between U2AF 65 and CF I(m) links the splicing and 3' end processing machineries.", "journal": "The EMBO journal", "date": "2006", "authors": "Millevoi S, Loulergue C, Dettwiler S, Karaa SZ, Keller W, Antoniou M, Vagner S", "evidence": [ { "database": "UniProtKB", "id": "O43809", "url": "https://www.uniprot.org/uniprot/O43809" } ], "reference": [ { "type": "PubMed", "id": "17024186", "url": "https://glygen.org/publication/PubMed/17024186" } ] }, { "title": "Knock-down of 25 kDa subunit of cleavage factor Im in Hela cells alters alternative polyadenylation within 3'-UTRs.", "journal": "Nucleic acids research", "date": "2006", "authors": "Kubo T, Wada T, Yamaguchi Y, Shimizu A, Handa H", "evidence": [ { "database": 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Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43809", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43809" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43809", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43809" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.", "journal": "The Journal of biological chemistry", "date": "2023-08", "authors": "Guan Wen-Liang, Jiang Lei-Lei, Yin Xiao-Fang, Hu Hong-Yu", "evidence": [ { "database": "RefSeq", "id": "NP_008937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" } ], "reference": [ { "type": "PubMed", "id": "37422193", "url": "https://glygen.org/publication/PubMed/37422193" } ] }, { "title": "A new pathway for the transformation of AML in MDS: APA mechanism regulated by NUDT21 and RUNX1.", "journal": "Neoplasma", "date": "2023-06", "authors": "Li Shuo, Ren Fanggang, Liu Xiao-Li, Zhang Hong-Yu, Xu Zhi-Fang, Muyey Daniel Muteb, Zheng Zhuanzhen, Tan Yan-Hong, Chen Xiu-Hua, Wang Hong-Wei", "evidence": [ { "database": "RefSeq", "id": "NP_008937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" } ], "reference": [ { "type": "PubMed", "id": "37498064", "url": "https://glygen.org/publication/PubMed/37498064" } ] }, { "title": "Alternative polyadenylation reprogramming of MORC2 induced by NUDT21 loss promotes KIRC carcinogenesis.", "journal": "JCI insight", "date": "2023-09-22", "authors": "Tan Yuqin, Zheng Tong, Su Zijun, Chen Min, Chen Suxiang, Zhang Rui, Wang Ruojiao, Li Ke, Na Ning", "evidence": [ { "database": "RefSeq", "id": "NP_008937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008937" } ], "reference": [ { "type": "PubMed", "id": "37737260", "url": "https://glygen.org/publication/PubMed/37737260" } ] }, { "title": "LINC00921 reduces lung 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