{ "uniprot_canonical_ac": "Q92791-1", "uniprot_ac": "Q92791", "uniprot_id": "SC65_HUMAN", "mass": { "chemical_mass": 50381.0, "monoisotopic_mass": 50381.0 }, "refseq": { "ac": "NP_006446", "name": "endoplasmic reticulum protein SC65 precursor", "summary": "This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" }, "gene_names": [ { "name": "P3H4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q92791", "id": "Q92791" }, { "name": "LEPREL4; NO55; NOL55; SC65", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446", "id": "NP_006446" }, { "name": "LEPREL4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q92791", "id": "Q92791" }, { "name": "NOL55", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q92791", "id": "Q92791" }, { "name": "P3H4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446", "id": "NP_006446" }, { "name": "SC65", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q92791", "id": "Q92791" } ], "protein_names": [ { "name": "Endoplasmic reticulum protein SC65", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q92791" }, { "name": "Leprecan-like protein 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92791" }, { "name": "Nucleolar autoantigen No55", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92791" }, { "name": "Prolyl 3-hydroxylase family member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92791" }, { "name": "Synaptonemal complex protein SC65", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92791" }, { "name": "endoplasmic reticulum protein SC65 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446", "id": "NP_006446" }, { "name": "nucleolar autoantigen (55kD); nucleolar autoantigen No55; synaptonemal complex protein SC65; nucleolar autoantigen, 55kDa; leprecan-like protein 4; leprecan-like 4; endoplasmic reticulum protein SC65; prolyl 3-hydroxylase family member 4 (non-enzymatic); synaptonemal complex 65", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446", "id": "NP_006446" } ], "function": [ { "annotation": "High P3H4 expression is associated with bladder cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" }, { "database": "PubMed", "id": "30322400", "url": "https://glygen.org/publication/PubMed/30322400" } ] }, { "annotation": "Knockdown of P3H4 inhibits proliferation and invasion of bladder cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" }, { "database": "PubMed", "id": "32018225", "url": "https://glygen.org/publication/PubMed/32018225" } ] }, { "annotation": "P3H4 Overexpression Serves as a Prognostic Factor in Lung Adenocarcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" }, { "database": "PubMed", "id": "34257701", "url": "https://glygen.org/publication/PubMed/34257701" } ] }, { "annotation": "P3H4 and PLOD1 expression associates with poor prognosis in bladder cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" }, { "database": "PubMed", "id": "35149972", "url": "https://glygen.org/publication/PubMed/35149972" } ] }, { "annotation": "Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linking of collagen fibrils. Required for normal bone density and normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly.", "evidence": [ { "database": "UniProtKB", "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791#function" }, { "database": "UniProtKB", "id": "Q8K2B0", "url": "https://www.uniprot.org/uniprot/Q8K2B0#function" } ] }, { "annotation": "SC65 protein is identified as an autoimmune target in idiopathic membranous nephropathy.", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" }, { "database": "PubMed", "id": "23144993", "url": "https://glygen.org/publication/PubMed/23144993" } ] }, { "annotation": "This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs111757022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111757022" }, { "id": "rs111757022", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs111757022" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 363, "end_pos": 363, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQN); o-glyco-site-loss (T->N).", "chr_id": "17", "chr_pos": "41806854", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1597895672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1597895672" }, { "id": "rs1597895672", 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"41811170", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782122433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782122433" }, { "id": "rs782122433", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782122433" }, { "id": "rs782122433", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782122433" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 22, "end_pos": 22, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "17", "chr_pos": "41811850", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K22", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781836884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781836884" }, { "id": "rs781836884", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781836884" }, { "id": "rs781836884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781836884" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 361, "end_pos": 361, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->IQT).", "chr_id": "17", "chr_pos": "41806860", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N361", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781836884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781836884" }, { "id": "rs781836884", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781836884" }, { "id": "rs781836884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781836884" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 361, "end_pos": 361, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->TQT).", "chr_id": "17", "chr_pos": "41806860", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N361", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "69.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "60.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "72.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "75.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "63.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "65.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141696", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141696" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q92791", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92791" } ], "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": 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"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": 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"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", 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"BioXpress", "id": "Q92791", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92791" } ], "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", 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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 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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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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial 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": "Q92791", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92791" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q92791", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92791" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"Organism-specific", "Protein" ] }, { "id": "Q92791", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92791", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EAFCGRN", "url": "https://omabrowser.org/oma/group/EAFCGRN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5398065at2759", "url": "http://www.orthodb.org/?query=5398065at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13986", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13986", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13986:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13986:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "Q92791", "url": "https://pharos.nih.gov/targets/Q92791", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q92791", "url": "http://purl.obolibrary.org/obo/PR_Q92791", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0YED7", "url": "https://www.uniprot.org/uniprot/H0YED7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YED7-1", "url": "https://www.uniprot.org/uniprot/H0YED7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJ03", "url": "https://www.uniprot.org/uniprot/K7EJ03", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJ03-1", "url": "https://www.uniprot.org/uniprot/K7EJ03-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERA3", "url": "https://www.uniprot.org/uniprot/K7ERA3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERA3-1", "url": "https://www.uniprot.org/uniprot/K7ERA3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92791-1", "url": "https://www.uniprot.org/uniprot/Q92791-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARVAWGLLWLLLGSAGAQYEKYSFRGFPPEDLMPLAAAYGHALEQYEGESWRESARYLEAALRLHRLLRDSEAFCHANCSGPAPAAKPDPDGGRADEWACELRLFGRVLERAACLRRCKRTLPAFQVPYPPRQLLRDFQSRLPYQYLHYALFKANRLEKAVAAAYTFLQRNPKHELTAKYLNYYQGMLDVADESLTDLEAQPYEAVFLRAVKLYNSGDFRSSTEDMERALSEYLAVFARCLAGCEGAHEQVDFKDFYPAIADLFAESLQCKVDCEANLTPNVGGYFVDKFVATMYHYLQFAYYKLNDVRQAARSAASYMLFDPKDSVMQQNLVYYRFHRARWGLEEEDFQPREEAMLYHNQTAELRELLEFTHMYLQSDDEMELEETEPPLEPEDALSDAEFEGEGDYEEGMYADWWQEPDAKGDEAEAEPEPELA", "length": 437, "header": "sp|Q92791-1|SC65_HUMAN Isoform 1 of Endoplasmic reticulum protein SC65 OS=Homo sapiens OX=9606 GN=P3H4 PE=1 SV=1 CANONICAL=Q92791-1" }, "isoforms": [ { "isoform_ac": "H0YED7-1", "url": "", "sequence": { "sequence": "XLRELLEFTHMYLQSDDEMELEETEPPLEPEDALSDAEFEGEGDYEEGMYADWWQEPDAKGDEAEAEPEPELA", "length": 73, "header": "tr|H0YED7-1|H0YED7_HUMAN Computationally mapped isoform of Prolyl 3-hydroxylase family member 4 (inactive) OS=Homo sapiens OX=9606 GN=P3H4 PE=1 SV=1 CANONICAL=Q92791-1" }, "locus": { "chromosome": "17", "start_pos": 41806848, "end_pos": 41802959, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000465097.1", "url": "https://www.ensembl.org/id/ENST00000465097.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435615.1", "url": "https://www.ensembl.org/id/ENSP00000435615.1" } ] } }, { "isoform_ac": "K7EJ03-1", "url": "", "sequence": { "sequence": "MARVAWGLLWLLLGSAGAQYEKYSFRGFPPEDLMPLAAAYGHALEQYEGESWRESARYLEAALRLHRLLRDSEAFCHANCSGPAP", "length": 85, "header": "tr|K7EJ03-1|SC65_HUMAN Computationally mapped isoform of Endoplasmic reticulum protein SC65 OS=Homo sapiens OX=9606 GN=P3H4 PE=1 SV=1 CANONICAL=Q92791-1" }, "locus": { "chromosome": "17", "start_pos": 41811915, "end_pos": 41811661, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590496.1", "url": "https://www.ensembl.org/id/ENST00000590496.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464968.1", "url": "https://www.ensembl.org/id/ENSP00000464968.1" } ] } }, { "isoform_ac": "K7ERA3-1", "url": "", "sequence": { "sequence": "XKRTLPAFQVPYPPRQLLRDFQSRLPYQYLHYALFKANRLEKAVAAAYTFLQRNPKHELTAKYLNYYQGMLDVADESLTDLEAQPYEAVFLRAVKLYNSGDFRSSTEDMERALSEYLAVFARCLAGCEGAHEQVDFKDFYPAIAVNDVRQAARSAASYMLFDPKDSVMQQNLVYYRFHRARWGLEEEDFQPREEAMLYHNQTAELRELLEFTHMYLQSDDE", "length": 221, "header": "tr|K7ERA3-1|K7ERA3_HUMAN Computationally mapped isoform of Prolyl 3-hydroxylase family member 4 (inactive) OS=Homo sapiens OX=9606 GN=P3H4 PE=1 SV=1 CANONICAL=Q92791-1" }, "locus": { "chromosome": "17", "start_pos": 41811560, "end_pos": 41806796, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592026.1", "url": "https://www.ensembl.org/id/ENST00000592026.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468174.1", "url": "https://www.ensembl.org/id/ENSP00000468174.1" } ] } }, { "isoform_ac": "Q92791-1", "url": "", "sequence": { "sequence": "MARVAWGLLWLLLGSAGAQYEKYSFRGFPPEDLMPLAAAYGHALEQYEGESWRESARYLEAALRLHRLLRDSEAFCHANCSGPAPAAKPDPDGGRADEWACELRLFGRVLERAACLRRCKRTLPAFQVPYPPRQLLRDFQSRLPYQYLHYALFKANRLEKAVAAAYTFLQRNPKHELTAKYLNYYQGMLDVADESLTDLEAQPYEAVFLRAVKLYNSGDFRSSTEDMERALSEYLAVFARCLAGCEGAHEQVDFKDFYPAIADLFAESLQCKVDCEANLTPNVGGYFVDKFVATMYHYLQFAYYKLNDVRQAARSAASYMLFDPKDSVMQQNLVYYRFHRARWGLEEEDFQPREEAMLYHNQTAELRELLEFTHMYLQSDDEMELEETEPPLEPEDALSDAEFEGEGDYEEGMYADWWQEPDAKGDEAEAEPEPELA", "length": 437, "header": "sp|Q92791-1|SC65_HUMAN Isoform 1 of Endoplasmic reticulum protein SC65 OS=Homo sapiens OX=9606 GN=P3H4 PE=1 SV=1 CANONICAL=Q92791-1" }, "locus": { "chromosome": "17", "start_pos": 41811915, "end_pos": 41802960, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355468.7", "url": "https://www.ensembl.org/id/ENST00000355468.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000347649.2", "url": "https://www.ensembl.org/id/ENSP00000347649.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 361, "start_aa": "Asn", "end_pos": 361, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn361", "evidence": [ { "id": "1782", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1782" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 361, "start_aa": "Asn", "end_pos": 361, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn361", "evidence": [ { "id": "1782", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1782" }, { "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": "N-linked (GlcNAc...) asparagine", "start_pos": 361, "start_aa": "Asn", "end_pos": 361, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn361", "evidence": [ { "id": "Q92791", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92791#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 363, "start_aa": "Thr", "end_pos": 363, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr363", "evidence": [ { "id": "Q92791", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92791" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of nucleolar protein No55 as a tumour-associated autoantigen in patients with prostate cancer.", "journal": "Br. J. Cancer", "date": "2000", "authors": "Siebert R., Maelandsmo G.M., Aasheim H.-C., Smeland E.B., Berner A., Fossa A., Fossa S.D., Gaudernack G., Paus E.", "evidence": [ { "database": "UniProtKB", "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791" } ], "reference": [ { "type": "PubMed", "id": "10952778", "url": "https://glygen.org/publication/PubMed/10952778" } ] }, { "title": "Identification and characterization of a new autoimmune protein in membranous nephropathy by immunoscreening of a renal cDNA library.", "journal": "PloS one", "date": "2012", "authors": "Cavazzini F, Magistroni R, Furci L, Lupo V, Ligabue G, Granito M, Leonelli M, Albertazzi A, Cappelli G", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" } ], "reference": [ { "type": "PubMed", "id": "23144993", "url": "https://glygen.org/publication/PubMed/23144993" } ] }, { "title": "Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasis.", "journal": "J. Bone Miner. Res.", "date": "2014", "authors": "Chen Y., Eyre D.R., Castagnola P., Suva L.J., Morello R., Dimori M., Akel N.S., Besio R., Gaddy D., Gruenwald K., Skinner R.A., Swain F.L.", "evidence": [ { "database": "UniProtKB", "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791" } ], "reference": [ { "type": "PubMed", "id": "23959653", "url": "https://glygen.org/publication/PubMed/23959653" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1782", "url": "https://glyconnect.expasy.org/browser/proteins/1782" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "P3H4 is correlated with clinicopathological features and prognosis in bladder cancer.", "journal": "World journal of surgical oncology", "date": "2018", "authors": "Li W, Ye L, Chen Y, Chen P", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" } ], "reference": [ { "type": "PubMed", "id": "30322400", "url": "https://glygen.org/publication/PubMed/30322400" } ] }, { "title": "Knockdown of P3H4 inhibits proliferation and invasion of bladder cancer.", "journal": "Aging", "date": "2020", "authors": "Hao L, Pang K, Pang H, Zhang J, Zhang Z, He H, Zhou R, Shi Z, Han C", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" } ], "reference": [ { "type": "PubMed", "id": "32018225", "url": "https://glygen.org/publication/PubMed/32018225" } ] }, { "title": "P3H4 Overexpression Serves as a Prognostic Factor in Lung Adenocarcinoma.", "journal": "Computational and mathematical methods in medicine", "date": "2021", "authors": "Jin X, Zhou H, Song J, Cui H, Luo Y, Jiang H", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" } ], "reference": [ { "type": "PubMed", "id": "34257701", "url": "https://glygen.org/publication/PubMed/34257701" } ] }, { "title": "P3H4 and PLOD1 expression associates with poor prognosis in bladder cancer.", "journal": "Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico", "date": "2022", "authors": "Zhang J, Dong Y, Shi Z, He H, Chen J, Zhang S, Wu W, Zhang Q, Han C, Hao L", "evidence": [ { "database": "RefSeq", "id": "NP_006446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006446" } ], "reference": [ { "type": "PubMed", "id": "35149972", "url": "https://glygen.org/publication/PubMed/35149972" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q92791", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92791" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "cDNA cloning and characterization of a novel nucleolar protein.", "journal": "Mol. Biol. Cell", "date": "1996", "authors": "Ochs RL, Stein TW Jr, Chan EK, Ruutu M, Tan EM", "evidence": [ { "database": "UniProtKB", "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791" } ], "reference": [ { "type": "PubMed", "id": "8862517", "url": "https://glygen.org/publication/PubMed/8862517" } ] } ], "pathway": [ { "id": "hsa:10609", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10609", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8K2B0-1", "protein_name": "Endoplasmic reticulum protein SC65", "gene_name": "P3h4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARGAWGLLWLLLGSAGAQYEKYSFRGFPPEDLMPLATAYGHALEQYEGESWRESARYLEAALRLHRLLRDSEAFCHANCSGPATSQPRPASGPDGDHDGDGEDWARELRLFGHVLERAACLRRCKKTLPAFQVPYPPRQLLRDFQSRLPYQYLHYAHFKANRLEKAVAAAYTFLQRNPKHELTAKYLNYYRGMLDIGDESLTDLEAQPYEAVFLRAVKLYNSGDFRSSTEDMERALAEYMTVFARCLAGCEGAHEQVDFKDFYPAIADLFAESLQCKVDCETNLTPNVGGFFVDKFVATMYHYLQFAYYKLNDVRQAARSAASYMLFDPKDSVMQQNLVYYRFHRARWGLEDEDFQPREEAMLYHNQTSELRELLDFTHMYLQSDDEMELEETESLPEPEEPLSDAEFEGEGDYEEGLYADWWQEPEAKGDEAEAEPEPELT", "length": 443 }, "evidence": [ { "id": "45236451", "url": "http://www.informatics.jax.org/homology/45236451", "database": "MGI" }, { "id": "Q92791", "url": "https://omabrowser.org/oma/group/Q92791/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "condensed nuclear chromosome", "id": "GO:0000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q92791", "url": "https://www.uniprot.org/uniprot/Q92791" } ], "pmid": "" 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