{ "uniprot_canonical_ac": "O76031-1", "uniprot_ac": "O76031", "uniprot_id": "CLPX_HUMAN", "mass": { "chemical_mass": 69224.0, "monoisotopic_mass": 69224.0 }, "refseq": { "ac": "NP_006651", "name": "ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial precursor", "summary": "The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651" }, "gene_names": [ { "name": "CLPX", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O76031", "id": "O76031" }, { "name": "CLPX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651", "id": "NP_006651" }, { "name": "EPP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651", "id": "NP_006651" } ], "protein_names": [ { "name": "ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O76031" }, { "name": "ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651", "id": "NP_006651" }, { "name": "energy-dependent regulator of proteolysis; ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial; ClpX caseinolytic protease X homolog; ClpX caseinolytic peptidase X homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651", "id": "NP_006651" } ], "function": [ { "annotation": "ATP-dependent specificity component of the Clp protease complex. Hydrolyzes ATP (PubMed:28874591). Targets specific substrates for degradation by the Clp complex (PubMed:11923310, PubMed:22710082). Can perform chaperone functions in the absence of CLPP. Enhances the DNA-binding activity of TFAM and is required for maintaining a normal mitochondrial nucleoid structure (PubMed:22841477). ATP-dependent unfoldase that stimulates the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5-aminolevulinate (ALA) synthesis, the first step in heme biosynthesis (PubMed:28874591). Important for efficient erythropoiesis through up-regulation of heme biosynthesis (PubMed:25957689, PubMed:28874591).", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031#function" }, { "database": "PubMed", "id": "25957689", "url": "https://glygen.org/publication/PubMed/25957689" }, { "database": "PubMed", "id": "22710082", "url": "https://glygen.org/publication/PubMed/22710082" }, { "database": "PubMed", "id": "22841477", "url": "https://glygen.org/publication/PubMed/22841477" }, { "database": "PubMed", "id": "11923310", "url": "https://glygen.org/publication/PubMed/11923310" }, { "database": "PubMed", "id": "28874591", "url": "https://glygen.org/publication/PubMed/28874591" } ] }, { "annotation": "Data suggest that tumors exploit ClpXP-directed proteostasis to maintain mitochondrial bioenergetics, buffer oxidative stress, and enable metastatic competence. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651" }, { "database": "PubMed", "id": "27389535", "url": "https://glygen.org/publication/PubMed/27389535" } ] }, { "annotation": "Experiencing community and domestic violence is associated with epigenetic changes in DNA methylation of BDNF and CLPX in adolescents.", "evidence": [ { "database": "RefSeq", "id": "NP_006651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651" }, { "database": "PubMed", "id": "31059136", "url": "https://glygen.org/publication/PubMed/31059136" } ] }, { "annotation": "Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX.", "evidence": [ { "database": "RefSeq", "id": "NP_006651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651" }, { "database": "PubMed", "id": "34704252", "url": "https://glygen.org/publication/PubMed/34704252" } ] }, { "annotation": "Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651" }, { "database": "PubMed", "id": "34943861", "url": "https://glygen.org/publication/PubMed/34943861" } ] }, { "annotation": "The mutation in CLPX inactivates its ATPase activity, resulting in coassembly of mutant and WT protomers to form an enzyme with reduced activity. The presence of low-activity CLPX increases the posttranslational stability of ALAS, causing increased ALAS protein and ALA levels, leading to abnormal accumulation of PPIX.", "evidence": [ { "database": "RefSeq", "id": "NP_006651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651" }, { "database": "PubMed", "id": "28874591", "url": "https://glygen.org/publication/PubMed/28874591" } ] }, { "annotation": "The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_006651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651" } ] } ], "disease": [ { "disease_id": "MONDO:0060729", "recommended_name": { "id": "MONDO:0060729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060729", "name": "protoporphyria, erythropoietic, 2", "description": "" }, "synonyms": [ { "id": "MONDO:0060729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060729", "name": "protoporphyria, erythropoietic, 2", "description": "" }, { "id": "MONDO:0060729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060729", "name": "EPP2", "description": "" }, { "id": "MIM:618015", "resource": "MIM", "url": "https://www.omim.org/entry/618015", "name": "Protoporphyria, erythropoietic, 2", "description": "Protoporphyria, erythropoietic, 2" } ], "evidence": [ { "id": "618015", "database": "MIM", "url": "https://www.omim.org/entry/618015" } ] } ], "snv": [ { "evidence": [ { "id": "rs1196452618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196452618" }, { "id": "rs1196452618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196452618" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 205, "end_pos": 205, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNI->NNT).", "chr_id": "15", "chr_pos": "65164088", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1287890397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1287890397" }, { "id": "rs1287890397", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1287890397" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 253, "end_pos": 253, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAL->NAS).", "chr_id": "15", "chr_pos": "65158709", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764875363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764875363" }, { "id": "rs764875363", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764875363" }, { "id": "rs764875363", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764875363" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 346, "end_pos": 346, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYN->NYS).", "chr_id": "15", "chr_pos": "65157766", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N346", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O76031", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O76031" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 396, "end_pos": 396, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "15", "chr_pos": "65155817", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P396", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs775764773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775764773" }, { "id": "rs775764773", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775764773" }, { "id": "rs775764773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775764773" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 411, "end_pos": 411, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTT->NTT).", "chr_id": "15", "chr_pos": "65155772", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376608462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376608462" }, { "id": "rs376608462", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376608462" }, { "id": "rs376608462", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376608462#frequency_tab" }, { "id": "rs376608462", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376608462" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 81, "end_pos": 81, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKK->NKT).", "chr_id": "15", "chr_pos": "65179050", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K81", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 359, "end_pos": 359, "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes ATP hydrolysis.", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" }, { "database": "PubMed", "id": "22710082", "url": "https://glygen.org/publication/PubMed/22710082" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O76031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76031" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O76031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76031" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O76031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76031" } ], "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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "common_name": "Human" } ], "gene": [ { "name": "CLPX", "url": "https://www.uniprot.org/uniprot/O76031", "locus": { "chromosome": "15", "start_pos": 65148219, "end_pos": 65185342, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000166855", "url": "https://www.ensembl.org/id/ENSG00000166855" } ] } } ], "crossref": [ { "id": "ENSG00000166855", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166855", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O76031", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O76031", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd19497", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19497", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3797014", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3797014", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "CLPX", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLPX", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10845", "url": "https://www.ncbi.nlm.nih.gov/gene/10845", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2088", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2088", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O76031", "url": "https://www.ebi.ac.uk/intact/interactors/id:O76031*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003593", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003593", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003959", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003959", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004487", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004487", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010603", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010603", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019489", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019489", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10845", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10845", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "615611", "url": "http://www.omim.org/entry/615611", "database": "MIM", "categories": [ "Other" ] }, { "id": "618015", "url": "http://www.omim.org/entry/618015", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O76031", "url": "https://www.nextprot.org/entry/NX_O76031", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O76031", "url": "https://oglcnac.org/atlas/detail/O76031", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O76031", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76031", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HRSDFTN", "url": "https://omabrowser.org/oma/group/HRSDFTN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "452393at2759", "url": "http://www.orthodb.org/?query=452393at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR48102", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48102", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48102:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48102:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07724", "url": "http://pfam.xfam.org/family/PF07724", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF10431", "url": "http://pfam.xfam.org/family/PF10431", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O76031", "url": "https://pharos.nih.gov/targets/O76031", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O76031", "url": "http://purl.obolibrary.org/obo/PR_O76031", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_006651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006651", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0YK07", "url": "https://www.uniprot.org/uniprot/H0YK07", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YK07-1", "url": "https://www.uniprot.org/uniprot/H0YK07-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YM48", "url": "https://www.uniprot.org/uniprot/H0YM48", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YM48-1", "url": "https://www.uniprot.org/uniprot/H0YM48-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O76031-1", "url": "https://www.uniprot.org/uniprot/O76031-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPSCGACTCGAAAVRLITSSLASAQRGISGGRIHMSVLGRLGTFETQILQRAPLRSFTETPAYFASKDGISKDGSGDGNKKSASEGSSKKSGSGNSGKGGNQLRCPKCGDLCTHVETFVSSTRFVKCEKCHHFFVVLSEADSKKSIIKEPESAAEAVKLAFQQKPPPPPKKIYNYLDKYVVGQSFAKKVLSVAVYNHYKRIYNNIPANLRQQAEVEKQTSLTPRELEIRRREDEYRFTKLLQIAGISPHGNALGASMQQQVNQQIPQEKRGGEVLDSSHDDIKLEKSNILLLGPTGSGKTLLAQTLAKCLDVPFAICDCTTLTQAGYVGEDIESVIAKLLQDANYNVEKAQQGIVFLDEVDKIGSVPGIHQLRDVGGEGVQQGLLKLLEGTIVNVPEKNSRKLRGETVQVDTTNILFVASGAFNGLDRIISRRKNEKYLGFGTPSNLGKGRRAAAAADLANRSGESNTHQDIEEKDRLLRHVEARDLIEFGMIPEFVGRLPVVVPLHSLDEKTLVQILTEPRNAVIPQYQALFSMDKCELNVTEDALKAIARLALERKTGARGLRSIMEKLLLEPMFEVPNSDIVCVEVDKEVVEGKKEPGYIRAPTKESSEEEYDSGVEEEGWPRQADAANS", "length": 633, "header": "sp|O76031-1|CLPX_HUMAN Isoform 1 of ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial OS=Homo sapiens OX=9606 GN=CLPX PE=1 SV=2 CANONICAL=O76031-1" }, "isoforms": [ { "isoform_ac": "H0YK07-1", "url": "", "sequence": { "sequence": "MSVLGRLGTFETQILQRAPLRSFTETPAYFASKDGISKDGSGDGNKKSASEGSSKKSGSGNSGKGGNQLRCPKCGDLCTHVETFVSSTRFVKCEKCHHFFVVLSEADSKKSIIKEPESAAEAVKLAFQQK", "length": 130, "header": "tr|H0YK07-1|CLPX_HUMAN Computationally mapped isoform of ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial OS=Homo sapiens OX=9606 GN=CLPX PE=1 SV=1 CANONICAL=O76031-1" }, "locus": { "chromosome": "15", "start_pos": 65180181, "end_pos": 65166652, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559218.1", "url": "https://www.ensembl.org/id/ENST00000559218.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452611.1", "url": "https://www.ensembl.org/id/ENSP00000452611.1" } ] } }, { "isoform_ac": "H0YM48-1", "url": "", "sequence": { "sequence": "MPSCGACTCGAAAVRLITSSLASAQRGISGGRIHMSVLGRLGTFETQILQRAPLRSFTETPAYFASKDGISKDGSGDGNKKSASEGSSKKSGSGNSGKGGNQLRCPKCGDLCTHVETFVSSTRFVKCEKCHHFFVVLSEADSKKSIIKEPESAAEAVKLAFQQKPPPPPKKIYNYLDKYVVGQSFAKKVLSVAVYNHYKRIYNNIPANLRQQAEVEKQTSLTPRELEIRRREDEYRFTKLLQIAGISPHGNALGASMQQQVKLCWHKP", "length": 268, "header": "tr|H0YM48-1|H0YM48_HUMAN Computationally mapped isoform of Caseinolytic mitochondrial matrix peptidase chaperone subunit X OS=Homo sapiens OX=9606 GN=CLPX PE=1 SV=1 CANONICAL=O76031-1" }, "locus": { "chromosome": "15", "start_pos": 65185153, "end_pos": 65157887, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559152.5", "url": "https://www.ensembl.org/id/ENST00000559152.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453461.1", "url": "https://www.ensembl.org/id/ENSP00000453461.1" } ] } }, { "isoform_ac": "O76031-1", "url": "", "sequence": { "sequence": "MPSCGACTCGAAAVRLITSSLASAQRGISGGRIHMSVLGRLGTFETQILQRAPLRSFTETPAYFASKDGISKDGSGDGNKKSASEGSSKKSGSGNSGKGGNQLRCPKCGDLCTHVETFVSSTRFVKCEKCHHFFVVLSEADSKKSIIKEPESAAEAVKLAFQQKPPPPPKKIYNYLDKYVVGQSFAKKVLSVAVYNHYKRIYNNIPANLRQQAEVEKQTSLTPRELEIRRREDEYRFTKLLQIAGISPHGNALGASMQQQVNQQIPQEKRGGEVLDSSHDDIKLEKSNILLLGPTGSGKTLLAQTLAKCLDVPFAICDCTTLTQAGYVGEDIESVIAKLLQDANYNVEKAQQGIVFLDEVDKIGSVPGIHQLRDVGGEGVQQGLLKLLEGTIVNVPEKNSRKLRGETVQVDTTNILFVASGAFNGLDRIISRRKNEKYLGFGTPSNLGKGRRAAAAADLANRSGESNTHQDIEEKDRLLRHVEARDLIEFGMIPEFVGRLPVVVPLHSLDEKTLVQILTEPRNAVIPQYQALFSMDKCELNVTEDALKAIARLALERKTGARGLRSIMEKLLLEPMFEVPNSDIVCVEVDKEVVEGKKEPGYIRAPTKESSEEEYDSGVEEEGWPRQADAANS", "length": 633, "header": "sp|O76031-1|CLPX_HUMAN Isoform 1 of ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial OS=Homo sapiens OX=9606 GN=CLPX PE=1 SV=2 CANONICAL=O76031-1" }, "locus": { "chromosome": "15", "start_pos": 65185153, "end_pos": 65150826, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000300107.7", "url": "https://www.ensembl.org/id/ENST00000300107.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000300107.3", "url": "https://www.ensembl.org/id/ENSP00000300107.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 152, "start_aa": "Ser", "end_pos": 152, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser152", "evidence": [ { "id": "O76031", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76031" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O76031", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O76031" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 463, "start_aa": "Ser", "end_pos": 463, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser463", "evidence": [ { "id": "O76031", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76031" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O76031", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O76031" } ] } ], "phosphorylation": [ { "start_pos": 610, "end_pos": 610, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O76031", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76031" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser610" }, { "start_pos": 617, "end_pos": 617, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" }, { "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": "O76031", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76031" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser617" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human and mouse mitochondrial orthologs of bacterial ClpX.", "journal": "Mamm. Genome", "date": "2000", "authors": "Corydon T J, Wilsbech M, Jespersgaard C, Andresen B S, Borglum A D, Pedersen S, Bolund L, Gregersen N, Bross P", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "reference": [ { "type": "PubMed", "id": "11003706", "url": "https://glygen.org/publication/PubMed/11003706" } ] }, { "title": "Functional proteolytic complexes of the human mitochondrial ATP-dependent protease, hClpXP.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang SG, Ortega J, Singh SK, Wang N, Huang NN, Steven AC, Maurizi MR", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" }, { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "11923310", "url": "https://glygen.org/publication/PubMed/11923310" } ] }, { "title": "Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism.", "journal": "Nature cell biology", "date": "2002", "authors": "Bota DA, Davies KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "12198491", "url": "https://glygen.org/publication/PubMed/12198491" } ] }, { "title": "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "14623864", "url": "https://glygen.org/publication/PubMed/14623864" } ] }, { "title": "Crystallography and mutagenesis point to an essential role for the N-terminus of human mitochondrial ClpP.", "journal": "J. Struct. Biol.", "date": "2004", "authors": "Kang SG, Maurizi MR, Thompson M, Mueser T, Ahvazi B", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" }, { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "15522782", "url": "https://glygen.org/publication/PubMed/15522782" } ] }, { "title": "Cleavage site selection within a folded substrate by the ATP-dependent lon protease.", "journal": "The Journal of biological chemistry", "date": "2005-07-01", "authors": "Ondrovicov\u00e1 Gabriela, Liu Tong, Singh Kamalendra, Tian Bin, Li Hong, Gakh Oleksandr, Perecko Dusan, Janata Jir\u00ed, Granot Zvi, Orly Joseph, Kutejov\u00e1 Eva, Suzuki Carolyn K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "15870080", "url": "https://glygen.org/publication/PubMed/15870080" } ] }, { "title": "Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Kang SG, Dimitrova MN, Ortega J, Ginsburg A, Maurizi MR", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" }, { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "16115876", "url": "https://glygen.org/publication/PubMed/16115876" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nat. Biotechnol.", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17101804", "url": "https://glygen.org/publication/PubMed/17101804" } ] }, { "title": "GRIM-19 associates with the serine protease HtrA2 for promoting cell death.", "journal": "Oncogene", "date": "2007", "authors": "Ma X, Kalakonda S, Srinivasula SM, Reddy SP, Platanias LC, Kalvakolanu DV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17297443", "url": "https://glygen.org/publication/PubMed/17297443" } ] }, { "title": "Turnover of mitochondrial steroidogenic acute regulatory (StAR) protein by Lon protease: the unexpected effect of proteasome inhibitors.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007-09", "authors": "Granot Zvi, Kobiler Oren, Melamed-Book Naomi, Eimerl Sarah, Bahat Assaf, Lu Bin, Braun Sergei, Maurizi Michael R, Suzuki Carolyn K, Oppenheim Amos B, Orly Joseph", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17579211", "url": "https://glygen.org/publication/PubMed/17579211" } ] }, { "title": "Motif-specific 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"Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MLKSASQNFFRAYSSRIGRYAATASGKLAQSRLSNIPTPKALKKFLDEYIVGQEIGKKVLSVAVYNHYLRINDKQKKGELQRQRELMEREKIADDRDEPIFSGNSESKAGWRNLQRQFNLAGREVDEDLELSKSNVLVVGPSGSGKTLLATTLAKILNVPIAITDCTQLTQAGYIGEDVEVCIERLLVNAEFDVARAEKGIIVLDEIDKLAKPAASIGTKDVSGEGVQQSLLKIIEGHKVEITVKRPVKHDIDGQKNQTTTKKDEVFVVDTSNILFMIMGAFVGLDKHIVKRIEDMKKIQKAGESVESSNSKEVEKERAKKFRFSNTLEQVELDNGKKVCALDLTTPTDLVSFGLIPELIGRVPIITALQPLQRDDLFHILKEPKNALLDQYEYIFKQFGVRLCVTQKALKKVAQFALKEGTGARGLRGIMERLLLNVNYDCPGSNIAYVLIDEATVDSLQETEHSLASQVDVKYYSGDEKDSLIRDVSEEDKKLGVMLEKELGHSANIHTPTIPKRSLT", "length": 520 }, "evidence": [ { "id": "O76031", "url": "https://omabrowser.org/oma/group/O76031/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q5U2U0-1", "protein_name": "ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial", "gene_name": "Clpx", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSCGACTCGAAAARLLTTSLTSAQRGISCGRIHVPVLGRLGTLDTQILRRAPLRTFSETPAYFASKDGTNKDGSGDGNKKSVTEGSSKKSGSGNSGKGGNQLRCPKCGDLCTHVETFVSSTRFVKCEKCHHFFVVLSEADSKKSIIKEPESAAEAVKLAFQQKPPPPPKKIYNYLDKYVVGQSFAKKVLSVAVYNHYKRIYNNIPANLRQQAEVEKQTSLTPRELEIRRREDEYRFTKLLQIAGISPHGNALGASMQQQGSQQMPQEKRGGEVLDSPHDDIKLEKSNILLLGPTGSGKTLLAQTLAKCLDVPFAICDCTTLTQAGYVGEDIESVIAKLLQDANYNVEKAQQGIVFLDEVDKIGSVPGIHQLRDVGGEGVQQGLLKLLEGTIVNVPEKNSRKLRGETVQVDTTNILFVASGAFNGLDRIISRRKNEKYLGFGTPSNLGKGRRAAAAADLANRSGESNTHQDIEEKDRLLRHVEARDLIEFGMIPEFVGRLPVVVPLHSLDEKTLVQILTEPRNAVIPQYQALFSMDKCELNVTEDALKAIARLALERKTGARGLRSIMEKLLLEPMFEVPNSDIVCVEVDKEVVEGKKEPGYIRAPSKESSEEDYDSGVEEDGWPRQADAANS", "length": 633 }, "evidence": [ { "id": "45922665", "url": "http://www.informatics.jax.org/homology/45922665", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9JHS4-1", "protein_name": "ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial", "gene_name": "Clpx", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSCGACTCGAAAARLLTTSLTSAQRGISCGRIHVPVLGRLGTTLDAQALRRAPLRTFSETPAYFASKDGANKDGSGDGNKKSVTEGSSKKSGSGNSGKGGNQLRCPKCGDLCTHVETFVSSTRFVKCEKCHHFFVVLSEADSKKSIIKEPESAAEAVKLAFQQKPPPPPKKIYNYLDKYVVGQSFAKKVLSVAVYNHYKRIYNNIPANLRQQAEAEKQTSLTPRELEIRRREDEYRFTKLLQIAGISPHGNALGASMQQQVNQQMPQEKRGGEVLDSSQDDIKLEKSNILLLGPTGSGKTLLAQTLAKCLDVPFAICDCTTLTQAGYVGEDIESVIAKLLQDANYNVEKAQQGIVFLDEVDKIGSVPGIHQLRDVGGEGVQQGLLKLLEGTIVNVPEKNSRKLRGETVQVDTTNVLFVASGAFNGLDRIISRRKNEKYLGFGTPSNLGKGRRAAAAADLANRSGESNTHQDIEEKDRLLRHVEARDLIEFGMIPEFVGRLPVVVPLHSLDEKTLVQILTEPRNAVIPQYQALFSMDKCELNVTEDALKAIARLALERKTGARGLRSIMEKLLLEPMFEVPNSDIVCVEVDKEVVEGKKEPGYIRAPSKESSEEEYDSGVEEDGWPRQADAANS", "length": 634 }, "evidence": [ { "id": "45922665", "url": "http://www.informatics.jax.org/homology/45922665", "database": "MGI" }, { "id": "O76031", "url": "https://omabrowser.org/oma/group/O76031/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "endopeptidase Clp complex", "id": "GO:0009368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009368", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "mitochondrial endopeptidase Clp complex", "id": "GO:0009841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009841", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "peptidase activator activity", "id": "GO:0016504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016504", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "ATP-dependent protein folding chaperone", "id": "GO:0140662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140662", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "O76031", "url": "https://www.uniprot.org/uniprot/O76031" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 461, "end_pos": 463, "annotation": "n_glycosylation_sequon" }, { "start_pos": 541, "end_pos": 543, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 152, 463 ], "snv_sites": [ 81, 205, 253, 346, 396, 411 ], "glycation_sites": [], "phosphorylation_sites": [ 610, 617 ], "sequon_annotation_sites": [ { "start_pos": 461, "end_pos": 463 }, { "start_pos": 541, "end_pos": 543 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ 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"title", "journal", "date", "authors" ] } ] }