{ "uniprot_canonical_ac": "O00567-1", "uniprot_ac": "O00567", "uniprot_id": "NOP56_HUMAN", "mass": { "chemical_mass": 66050.0, "monoisotopic_mass": 66050.0 }, "refseq": { "ac": "NP_006383", "name": "nucleolar protein 56", "summary": "Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383" }, "gene_names": [ { "name": "NOP56", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00567", "id": "O00567" }, { "name": "NOL5A; SCA36", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383", "id": "NP_006383" }, { "name": "NOL5A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00567", "id": "O00567" }, { "name": "NOP56", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383", "id": "NP_006383" } ], "protein_names": [ { "name": "Nucleolar protein 56", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00567" }, { "name": "Nucleolar protein 5A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00567" }, { "name": "nucleolar protein 56", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383", "id": "NP_006383" }, { "name": "nucleolar protein 5A (56kDa with KKE/D repeat); NOP56 ribonucleoprotein homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383", "id": "NP_006383" } ], "function": [ { "annotation": "A PRC2-independent function for EZH2 in regulating rRNA 2'-O methylation and IRES-dependent translation.", "evidence": [ { "database": "RefSeq", "id": "NP_006383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383" }, { "database": "PubMed", "id": "33795875", "url": "https://glygen.org/publication/PubMed/33795875" } ] }, { "annotation": "Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs (PubMed:12777385, PubMed:15574333). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797).", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567#function" }, { "database": "PubMed", "id": "15574333", "url": "https://glygen.org/publication/PubMed/15574333" }, { "database": "PubMed", "id": "34516797", "url": "https://glygen.org/publication/PubMed/34516797" }, { "database": "PubMed", "id": "12777385", "url": "https://glygen.org/publication/PubMed/12777385" } ] }, { "annotation": "Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_006383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383" } ] }, { "annotation": "The roles of NOP56 in cancer and SCA36. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383" }, { "database": "PubMed", "id": "36741964", "url": "https://glygen.org/publication/PubMed/36741964" } ] }, { "annotation": "[Effect of piRNA NU13 in regulating biological behaviors of human Wilms tumor cells in vitro].", "evidence": [ { "database": "RefSeq", "id": "NP_006383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383" }, { "database": "PubMed", "id": "33624590", "url": "https://glygen.org/publication/PubMed/33624590" } ] } ], "disease": [ { "disease_id": "DOID:0050983", "recommended_name": { "id": "DOID:0050983", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050983", "name": "spinocerebellar ataxia type 36", "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene." }, "synonyms": [ { "id": "MONDO:0013594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013594", "name": "spinocerebellar ataxia type 36", "description": "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." }, { "id": "MONDO:0013594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013594", "name": "Asidan", "description": "" }, { "id": "MONDO:0013594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013594", "name": "SCA36", "description": "" }, { "id": "MONDO:0013594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013594", "name": "spinocerebellar ataxia type 36", "description": "" }, { "id": "MONDO:0013594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013594", "name": "spinocerebellar ataxia 36", "description": "" }, { "id": "MIM:614153", "resource": "MIM", "url": "https://www.omim.org/entry/614153", "name": "Spinocerebellar ataxia 36", "description": "Spinocerebellar ataxia 36" } ], "evidence": [ { "id": "614153", "database": "MIM", "url": "https://www.omim.org/entry/614153" } ] } ], "snv": [ { "evidence": [ { "id": "rs1333091442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333091442" }, { "id": "rs1333091442", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1333091442#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 207, "end_pos": 207, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT); n-glyco-sequon-gain (NDN->NDS).", "chr_id": "20", "chr_pos": "2655375", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00567", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00567" } ], "glycoeffect": [], "start_pos": 103, "end_pos": 103, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "2654512", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A103", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs11553608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11553608" }, { "id": "rs11553608", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11553608" }, { "id": "rs11553608", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs11553608#frequency_tab" }, { "id": "rs11553608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs11553608" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 138, "end_pos": 138, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain 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}, { "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": "O00567", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00567" } ], "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", 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"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", 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"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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00567", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00567" } ], "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00567", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00567" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00567" } ], "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": [ { "database": "BioXpress", "id": "O00567", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00567" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHSIVRLVAFCPFASSQVALENANAVSEGVVHEDLRLLLETHLPSKKKKVLLGVGDPKIGAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGHSYSRAKVKFNVNRVDNMIIQSISLLDQLDKDINTFSMRVREWYGYHFPELVKIINDNATYCRLAQFIGNRRELNEDKLEKLEELTMDGAKAKAILDASRSSMGMDISAIDLINIESFSSRVVSLSEYRQSLHTYLRSKMSQVAPSLSALIGEAVGARLIAHAGSLTNLAKYPASTVQILGAEKALFRALKTRGNTPKYGLIFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSVFGEKLREQVEERLSFYETGEIPRKNLDVMKEAMVQAEEAAAEITRKLEKQEKKRLKKEKKRLAALALASSENSSSTPEECEEMSEKPKKKKKQKPQEVPQENGMEDPSISFSKPKKKKSFSKEELMSSDLEETAGSTSIPKRKKSTPKEETVNDPEEAGHRSGSKKKRKFSKEEPVSSGPEEAVGKSSSKKKKKFHKASQED", "length": 594, "header": "sp|O00567-1|NOP56_HUMAN Isoform 1 of Nucleolar protein 56 OS=Homo sapiens OX=9606 GN=NOP56 PE=1 SV=4 CANONICAL=O00567-1" }, "isoforms": [ { "isoform_ac": "A0A494C128-1", "url": "", "sequence": { "sequence": "MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHSIVRLVAFCPFASSQVALENANAVSEGVVHEDLRLLLETHLPSKKKKVLLGVGDPKIGAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGHSYSRAKVKFNVNRVDNMIIQSISLLDQLDKDINTFSMRVREWYGYHFPELVKIINDNATYCRLAQFIGNRRELNEDKLEKLEELTMDGAKAKAILDASRSSMGMDISAIDLINIESFSSRVVSLSEYRQSLHTYLRSKMSQVAPSLSALIGEAVGARLIAHAGSLTNLAKYPASTVQILGAEKALFRALKTRGNTPKYGLIFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSVFGEKLREQVEERLSFYETGEIPRKNLDVMKEAMVQAEEAAAEITRKLEKQEKKRLKKEKKRLAALALASSENSSSTPEECEEGDRC", "length": 478, "header": "tr|A0A494C128-1|A0A494C128_HUMAN Computationally mapped isoform of Nucleolar protein 56 OS=Homo sapiens OX=9606 GN=NOP56 PE=1 SV=1 CANONICAL=O00567-1" }, "locus": { "chromosome": "20", "start_pos": 2657387, "end_pos": 2652661, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651302.1", "url": "https://www.ensembl.org/id/ENST00000651302.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498831.1", "url": "https://www.ensembl.org/id/ENSP00000498831.1" } ] } }, { "isoform_ac": "H0Y653-1", "url": "", "sequence": { "sequence": "XLINIESFSSRVVSLSEYRQSLHTYLRSKMSQVAPSLSALIGEAVGARLIAHAGSLTNLAKYPASTVQILGAEKALFRALKTRGNTPKYGLIFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSVFGEKLREQVEERLSFYETGEIPRKNLDVMKEAMVQAEEAAAEITRKLEKQEKKRLKKEKKRLAALALASSENSSSTPEECEEGDRC", "length": 219, "header": "tr|H0Y653-1|H0Y653_HUMAN Computationally mapped isoform of Nucleolar protein 5A OS=Homo sapiens OX=9606 GN=NOP56 PE=1 SV=1 CANONICAL=O00567-1" }, "locus": { "chromosome": "20", "start_pos": 2657388, "end_pos": 2655616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415272.2", "url": "https://www.ensembl.org/id/ENST00000415272.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000403199.1", "url": "https://www.ensembl.org/id/ENSP00000403199.1" } ] } }, { "isoform_ac": "H0YDU4-1", "url": "", "sequence": { "sequence": "XLEKLEELTMDGAKAKAILDASRSSMGMDISAIDLINIESFSSRVVSLSEYRQSLHTYLRSKMSQVAPSLSALIGEAVGARLIAHAGSLTNLAKYPASTVQILGAEKALFRALKTRGNTPKYGLIFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSVFGEKLREQVEERLSFYETGEIPRKNLDVMKEAMVQAEEAAAEITRKLEKQEKKRLKKEKKRLAALALASSENSSSTPEECEEGDRC", "length": 252, "header": "tr|H0YDU4-1|NOP56_HUMAN Computationally mapped isoform of Nucleolar protein 56 OS=Homo sapiens OX=9606 GN=NOP56 PE=1 SV=1 CANONICAL=O00567-1" }, "locus": { "chromosome": "20", "start_pos": 2657389, "end_pos": 2655436, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467196.5", "url": "https://www.ensembl.org/id/ENST00000467196.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434317.1", "url": "https://www.ensembl.org/id/ENSP00000434317.1" } ] } }, { "isoform_ac": "O00567-1", "url": "", "sequence": { "sequence": "MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHSIVRLVAFCPFASSQVALENANAVSEGVVHEDLRLLLETHLPSKKKKVLLGVGDPKIGAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGHSYSRAKVKFNVNRVDNMIIQSISLLDQLDKDINTFSMRVREWYGYHFPELVKIINDNATYCRLAQFIGNRRELNEDKLEKLEELTMDGAKAKAILDASRSSMGMDISAIDLINIESFSSRVVSLSEYRQSLHTYLRSKMSQVAPSLSALIGEAVGARLIAHAGSLTNLAKYPASTVQILGAEKALFRALKTRGNTPKYGLIFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSVFGEKLREQVEERLSFYETGEIPRKNLDVMKEAMVQAEEAAAEITRKLEKQEKKRLKKEKKRLAALALASSENSSSTPEECEEMSEKPKKKKKQKPQEVPQENGMEDPSISFSKPKKKKSFSKEELMSSDLEETAGSTSIPKRKKSTPKEETVNDPEEAGHRSGSKKKRKFSKEEPVSSGPEEAVGKSSSKKKKKFHKASQED", "length": 594, "header": "sp|O00567-1|NOP56_HUMAN Isoform 1 of Nucleolar protein 56 OS=Homo sapiens OX=9606 GN=NOP56 PE=1 SV=4 CANONICAL=O00567-1" }, "locus": { "chromosome": "20", "start_pos": 2658291, "end_pos": 2652661, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000329276.10", "url": "https://www.ensembl.org/id/ENST00000329276.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000370589.3", "url": "https://www.ensembl.org/id/ENSP00000370589.3" } ] } }, { "isoform_ac": "Q5JXT2-1", "url": "", "sequence": { "sequence": "MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHSIVRLVAFCPFASSQVALENANAVSEGVVHEDLRLLLETHLPSKKKKVLLGVGDPKIGAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGHSYSRAKVKFNVNRVDNMIIQSISLLDQLDKDINTFSMRVRQSRCGEGKAVALWFLMKQLGQGVTVALCREWYGYHFPELVKIINDNATYCRLAQFIGNRRELNEDKLEKLEELTMDGAKAKAILDASRSSM", "length": 281, "header": "tr|Q5JXT2-1|Q5JXT2_HUMAN Computationally mapped isoform of Nucleolar protein 56 OS=Homo sapiens OX=9606 GN=NOP56 PE=1 SV=1 CANONICAL=O00567-1" }, "locus": { "chromosome": "20", "start_pos": 2655511, "end_pos": 2652661, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445139.1", "url": "https://www.ensembl.org/id/ENST00000445139.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000388497.1", "url": "https://www.ensembl.org/id/ENSP00000388497.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 207, "start_aa": "Asn", "end_pos": 207, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn207", "evidence": [ { "id": "1580", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1580" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 207, "start_aa": "Asn", "end_pos": 207, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn207", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 390, "start_aa": "Thr", "end_pos": 390, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr390", "evidence": [ { "id": "O00567", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00567" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "28760965", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28760965" }, { "id": "O00567", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00567" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 391, "start_aa": "Ser", "end_pos": 391, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser391", "evidence": [ { "id": "O00567", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00567" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "STPKEETVNDPEEAGHR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 537, "start_aa": "Ser", "end_pos": 553, "end_aa": "Arg", "evidence": [ { "id": "O00567", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "phosphorylation": [ { "start_pos": 295, "end_pos": 295, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser295" }, { "start_pos": 297, "end_pos": 297, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser297" }, { "start_pos": 314, "end_pos": 314, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" } ], "site_lbl": "Ser314" }, { "start_pos": 369, "end_pos": 369, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser369" }, { "start_pos": 406, "end_pos": 406, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "phospho.ELM", "id": "O00567", "url": "http://phospho.elm.eu.org/byAccession/O00567.html" } ], "site_lbl": "Ser406" }, { "start_pos": 466, "end_pos": 466, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567" }, { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser466" }, { "start_pos": 467, "end_pos": 467, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567" }, { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser467" }, { "start_pos": 468, "end_pos": 468, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567" }, { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr468" }, { "start_pos": 511, "end_pos": 511, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O00567", "url": "http://phospho.elm.eu.org/byAccession/O00567.html" } ], "site_lbl": "Ser511" }, { "start_pos": 513, "end_pos": 513, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00567", "url": "http://phospho.elm.eu.org/byAccession/O00567.html" } ], "site_lbl": "Ser513" }, { "start_pos": 519, "end_pos": 519, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": 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protein-RNA contacts both contribute to the 15.5K-mediated assembly of the U4/U6 snRNP and the box C/D snoRNPs.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Schultz A, Nottrott S, Watkins NJ, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "16782898", "url": "https://glygen.org/publication/PubMed/16782898" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567" }, { "database": "iPTMnet", "id": "O00567", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00567" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": 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{ "database": "O-GlcNAc Database", "id": "O00567", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00567" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00567", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00567" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Methylation-directed glycosylation of chromatin factors represses retrotransposon promoters.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Boulard M, Rucli S, Edwards 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Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00567", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00567" }, { "database": "O-GlcNAc Atlas", "id": "O00567", "url": "https://oglcnac.org/atlas/detail/O00567" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "[Effect of piRNA NU13 in regulating biological behaviors of human Wilms tumor cells in vitro].", "journal": "Nan fang yi ke da xue xue bao = Journal of Southern Medical University", "date": "2021", "authors": "Zhang Z, Wang Z, Jin L, Tan X, Wang Z, Shen L, Wei G, He D", "evidence": [ { "database": "RefSeq", "id": "NP_006383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383" } ], "reference": [ { "type": "PubMed", "id": "33624590", "url": "https://glygen.org/publication/PubMed/33624590" } ] }, { "title": "A PRC2-independent function for EZH2 in regulating rRNA 2'-O methylation and IRES-dependent translation.", "journal": "Nature cell biology", "date": "2021", "authors": "Yi Y, Li Y, Meng Q, Li Q, Li F, Lu B, Shen J, Fazli L, Zhao D, Li C, Jiang W, Wang R, Liu Q, Szczepanski A, Li Q, Qin W, Weiner AB, Lotan TL, Ji Z, Kalantry S, Wang L, Schaeffer EM, Niu H, Dong X, Zhao W, Chen K, Cao Q", "evidence": [ { "database": "RefSeq", "id": "NP_006383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383" } ], "reference": [ { "type": "PubMed", "id": "33795875", "url": "https://glygen.org/publication/PubMed/33795875" } ] }, { "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": "O00567", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00567" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Nucleolar maturation of the human small subunit processome.", "journal": "Science (New York, N.Y.)", "date": "2021-09-10", "authors": "Singh Sameer, Vanden Broeck Arnaud, Miller Linamarie, Chaker-Margot Malik, Klinge Sebastian", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567" } ], "reference": [ { "type": "PubMed", "id": "34516797", "url": "https://glygen.org/publication/PubMed/34516797" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00567", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00567" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00567", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00567" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "The roles of NOP56 in cancer and SCA36.", "journal": "Pathology oncology research : POR", "date": "2023", "authors": "Zhao Shimin, Zhang Dongdong, Liu Sicheng, Huang Jun", "evidence": [ { "database": "RefSeq", "id": "NP_006383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006383" } ], "reference": [ { "type": "PubMed", "id": "36741964", "url": "https://glygen.org/publication/PubMed/36741964" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00567", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00567" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Eukaryotic ribosomal RNA: the recent excitement in the nucleotide modification problem.", "journal": "Chromosoma", "date": "1997", "authors": "Maden BE, Hughes JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "9211966", "url": "https://glygen.org/publication/PubMed/9211966" } ] }, { "title": "Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis.", "journal": "Mol. Cell. Biol.", "date": "1997", "authors": "Gautier T, Berges T, Tollervey D, Hurt E", "evidence": [ { "database": "UniProtKB", "id": "O00567", "url": "https://www.uniprot.org/uniprot/O00567" } ], "reference": [ { "type": "PubMed", "id": "9372940", "url": "https://glygen.org/publication/PubMed/9372940" } ] }, { "title": "Nucleolin functions in the first step of ribosomal RNA processing.", "journal": "The EMBO journal", "date": "1998", "authors": "Ginisty H, Amalric F, Bouvet P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "9482744", "url": "https://glygen.org/publication/PubMed/9482744" } ] }, { "title": "SnoRNA-guided ribose methylation of rRNA: structural features of the guide RNA duplex influencing the extent of the reaction.", "journal": "Nucleic acids research", "date": "1998", "authors": "Cavaille J, Bachellerie JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "9512526", "url": "https://glygen.org/publication/PubMed/9512526" } ] }, { "title": "Maturation of human cyclin E requires the function of eukaryotic chaperonin CCT.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Won KA, Schumacher RJ, Farr GW, Horwich AL, Reed SI", "evidence": [ { "database": "Reactome", "id": "R-HSA-390471", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390471" } ], "reference": [ { "type": "PubMed", "id": "9819444", "url": "https://glygen.org/publication/PubMed/9819444" } ] } ], "pathway": [ { "id": "hsa:10528", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10528", "resource": "KEGG Pathway" }, { "id": "R-HSA-390471", "name": "Association of TriC/CCT with target proteins during biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390471", "resource": "Reactome", "description": "Association of TriC/CCT with target proteins during biosynthesis" }, { "id": "R-HSA-6790901", "name": "rRNA modification in the nucleus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901", "resource": "Reactome", "description": "rRNA modification in the nucleus and cytosol" }, { "id": "R-HSA-6791226", "name": "Major pathway of rRNA processing in the nucleolus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226", "resource": "Reactome", "description": "Major pathway of rRNA processing in the nucleolus and cytosol" } ], "orthologs": [ { "uniprot_canonical_ac": "Q12460-1", "protein_name": "Nucleolar protein 56", "gene_name": "NOP56", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": 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"MVLLHVLFEHAVGYALLALKEVEEISLLLPQVEECVLNLGKFHNVVRLVAFCPFSSSQVALENANAVSEGVVHEDLRLLLETYLPSKKKKVLLGVGDPKIGAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGHSYSRAKVKFNVNRVDNMIIQSISLLDQLDKDINTFSMRVREWYGYHFPELVKIINDNATYCRLAQFIGNRRELNEEKLEKLEEITMDGAKAKAILDASRSSMGMDISAIDLINIESFSSRVVSLSEYRQSLHNYLRSKMSQVAPSLSALIGEAVGARLIAHAGSLTNLAKYPASTVQILGAEKALFRALKTRGNTPKYGLIFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSVFGEKLREQVEERLSFYETGEIPRKNLDVMKEAVVQAEEAAAEITRKLEKQEKKRLKKEKKRLAALALASSENSSTPEECEEVNEKPKKKKLKPQETLQENGMEDPPVSLPKTKKKKAFPKEELASDLEEMATSSISVPKKKKSLPKEEVASEPEEAASPITPKKKRKFSEEPEAAASCTKSSTKKKKKSQKAREED", "length": 588 }, "evidence": [ { "id": "45918041", "url": "http://www.informatics.jax.org/homology/45918041", "database": "MGI" }, { "id": "O00567", "url": "https://omabrowser.org/oma/group/O00567/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q95WY3-1", "protein_name": "Nucleolar protein 56", "gene_name": "Nop56", "tax_id": 7227, "organism": "Drosophila melanogaster", 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