{ "uniprot_canonical_ac": "O75439-1", "uniprot_ac": "O75439", "uniprot_id": "MPPB_HUMAN", "mass": { "chemical_mass": 54366.0, "monoisotopic_mass": 54366.0 }, "refseq": { "ac": "NP_004270", "name": "mitochondrial-processing peptidase subunit beta precursor", "summary": "This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270" }, "gene_names": [ { "name": "PMPCB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75439", "id": "O75439" }, { "name": "Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270", "id": "NP_004270" }, { "name": "MPPB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75439", "id": "O75439" }, { "name": "PMPCB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270", "id": "NP_004270" }, { "name": "hCG_18192", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75439", "id": "O75439" } ], "protein_names": [ { "name": "Mitochondrial-processing peptidase subunit beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75439" }, { "name": "3.4.24.64", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75439" }, { "name": "Beta-MPP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75439" }, { "name": "P-52", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75439" }, { "name": "mitochondrial-processing peptidase subunit beta precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270", "id": "NP_004270" }, { "name": "mitochondrial-processing peptidase subunit beta; mitochondrial processing peptidase beta subunit; peptidase (mitochondrial processing) beta; peptidase, mitochondrial processing beta subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270", "id": "NP_004270" } ], "function": [ { "annotation": "Biallelic mutations in PMPCB cause defects in MPP proteolytic activity leading to dysregulation of iron-sulfur cluster biogenesis and triggering a complex neurological phenotype of neurodegeneration in early childhood.", "evidence": [ { "database": "RefSeq", "id": "NP_004270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270" }, { "database": "PubMed", "id": "29576218", "url": "https://glygen.org/publication/PubMed/29576218" } ] }, { "annotation": "Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (PubMed:29576218) (Probable). Preferentially, cleaves after an arginine at position P2 (By similarity). Required for PINK1 turnover by coupling PINK1 mitochondrial import and cleavage, which results in subsequent PINK1 proteolysis (PubMed:22354088).", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439#function" }, { "database": "UniProtKB", "id": "Q03346", "url": "https://www.uniprot.org/uniprot/Q03346#function" }, { "database": "PubMed", "id": "22354088", "url": "https://glygen.org/publication/PubMed/22354088" }, { "database": "PubMed", "id": "29576218", "url": "https://glygen.org/publication/PubMed/29576218" } ] }, { "annotation": "Maintained expression and even up-regulation of some (PNPT1, PMPCB, HMMR/RHAMM, BSG and ERCC1) tumor associated antigens in CD40-activated leukemic cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270" }, { "database": "PubMed", "id": "19580345", "url": "https://glygen.org/publication/PubMed/19580345" } ] }, { "annotation": "OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase.", "evidence": [ { "database": "RefSeq", "id": "NP_004270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270" }, { "database": "PubMed", "id": "24903103", "url": "https://glygen.org/publication/PubMed/24903103" } ] }, { "annotation": "Silencing PMPCB increased hepatocellular carcinoma (HCC) susceptibility to sorafenib, decreased tumor burden, and improved survival. These results suggest contributory role of the PMPCB in sorafenib resistance.", "evidence": [ { "database": "RefSeq", "id": "NP_004270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270" }, { "database": "PubMed", "id": "31337603", "url": "https://glygen.org/publication/PubMed/31337603" } ] }, { "annotation": "These results highlight a new role for MPP in PINK1 import and mitochondrial quality control via the PINK1-Parkin pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_004270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270" }, { "database": "PubMed", "id": "22354088", "url": "https://glygen.org/publication/PubMed/22354088" } ] }, { "annotation": "This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004270" } ] } ], "disease": [ { "disease_id": "DOID:0070332", "recommended_name": { "id": "DOID:0070332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070332", "name": "multiple mitochondrial dysfunctions syndrome 6", "description": "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22." }, "synonyms": [ { "id": "MONDO:0054785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054785", "name": "multiple mitochondrial dysfunctions syndrome 6", "description": "" }, { "id": "MONDO:0054785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054785", "name": "MMDS6", "description": "" }, { "id": "MONDO:0054785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054785", "name": "PMPCB deficiency", "description": "" }, { "id": "MONDO:0054785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054785", "name": "multiple mitochondrial dysfunctions syndrome 6", "description": "" }, { "id": "MONDO:0054785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054785", "name": "multiple mitochondrial dysfunctions syndrome type 6", "description": "" }, { "id": "MIM:617954", "resource": "MIM", "url": "https://www.omim.org/entry/617954", "name": "Multiple mitochondrial dysfunctions syndrome 6", "description": "Multiple mitochondrial dysfunctions syndrome 6" } ], "evidence": [ { "id": "617954", "database": "MIM", "url": "https://www.omim.org/entry/617954" } ] } ], "snv": [ { "evidence": [ { "id": "O75439", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75439" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 113, "end_pos": 113, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "7", "chr_pos": "103300189", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K113", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O75439", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75439" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 127, "end_pos": 127, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NMG->NMS).", "chr_id": "7", "chr_pos": "103300229", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G127", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs34011085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34011085" }, { "id": "rs34011085", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs34011085#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 413, "end_pos": 413, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "7", "chr_pos": "103311725", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776477413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776477413" }, { "id": "rs776477413", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776477413" }, { "id": "rs776477413", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776477413" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 432, "end_pos": 432, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRS).", "chr_id": "7", "chr_pos": "103311863", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R432", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774018195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774018195" }, { "id": "rs774018195", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774018195" }, { "id": "rs774018195", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774018195" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 56, "end_pos": 56, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "7", "chr_pos": "103298634", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P56", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105819" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105819" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105819" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105819" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105819" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105819" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "94.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105819" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "95.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105819", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105819" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105819", "url": 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"" }, { "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", 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "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 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"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, 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"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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75439" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75439" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75439" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": 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"http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": 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"MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGSPLLTESRLDKYQGPPPSNMETSPPKKELRLVC", "length": 502, "header": "tr|A0A9L9PWW3-1|MPPB_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103314552, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706442.1", "url": "https://www.ensembl.org/id/ENST00000706442.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516383.1", "url": "https://www.ensembl.org/id/ENSP00000516383.1" } ] } }, { "isoform_ac": "A0A9L9PWX2-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRDSCEG", "length": 157, "header": "tr|A0A9L9PWX2-1|MPPB_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103308965, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706456.1", "url": "https://www.ensembl.org/id/ENST00000706456.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516393.1", "url": "https://www.ensembl.org/id/ENSP00000516393.1" } ] } }, { "isoform_ac": "A0A9L9PX42-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGFFLLRI", "length": 475, "header": "tr|A0A9L9PX42-1|MPPB_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103328934, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706437.1", "url": "https://www.ensembl.org/id/ENST00000706437.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516380.1", "url": "https://www.ensembl.org/id/ENSP00000516380.1" } ] } }, { "isoform_ac": "A0A9L9PX50-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKFV", "length": 221, "header": "tr|A0A9L9PX50-1|MPPB_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103308958, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706447.1", "url": "https://www.ensembl.org/id/ENST00000706447.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516385.1", "url": "https://www.ensembl.org/id/ENSP00000516385.1" } ] } }, { "isoform_ac": "A0A9L9PX59-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGFFLLRI", "length": 382, "header": "tr|A0A9L9PX59-1|A0A9L9PX59_HUMAN Computationally mapped isoform of Peptidase, mitochondrial processing subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103328934, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706459.1", "url": "https://www.ensembl.org/id/ENST00000706459.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516395.1", "url": "https://www.ensembl.org/id/ENSP00000516395.1" } ] } }, { "isoform_ac": "A0A9L9PXG6-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGDSCEG", "length": 250, "header": "tr|A0A9L9PXG6-1|A0A9L9PXG6_HUMAN Computationally mapped isoform of Peptidase, mitochondrial processing subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103308965, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706452.1", "url": "https://www.ensembl.org/id/ENST00000706452.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516390.1", "url": "https://www.ensembl.org/id/ENSP00000516390.1" } ] } }, { "isoform_ac": "A0A9L9PXH0-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGYNHRSELHEWKWNKLFSKRQTISYSYVNILLPQPQPQ", "length": 506, "header": "tr|A0A9L9PXH0-1|A0A9L9PXH0_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103329285, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706453.1", "url": "https://www.ensembl.org/id/ENST00000706453.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516391.1", "url": "https://www.ensembl.org/id/ENSP00000516391.1" } ] } }, { "isoform_ac": "A0A9L9PXH4-1", "url": "", "sequence": { "sequence": "GATDPNSGSGRASSTRTRRAPGGLGLLNWPGVTGLWPPARRPASDVWDDPGFRLLPPATEECMFDH", "length": 66, "header": "tr|A0A9L9PXH4-1|A0A9L9PXH4_HUMAN Computationally mapped isoform of Peptidase, mitochondrial processing subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=4 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103297825, "end_pos": 103297628, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706460.1", "url": "https://www.ensembl.org/id/ENST00000706460.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516396.1", "url": "https://www.ensembl.org/id/ENSP00000516396.1" } ] } }, { "isoform_ac": "A0A9L9PXH7-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWFNSNL", "length": 390, "header": "tr|A0A9L9PXH7-1|A0A9L9PXH7_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103311823, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706440.1", "url": "https://www.ensembl.org/id/ENST00000706440.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516382.1", "url": "https://www.ensembl.org/id/ENSP00000516382.1" } ] } }, { "isoform_ac": "A0A9L9PXI7-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGYNHRSELHEWKWNKLFSKRQTISYSYVNILLPQPQPQYV", "length": 508, "header": "tr|A0A9L9PXI7-1|A0A9L9PXI7_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103329049, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706454.1", "url": "https://www.ensembl.org/id/ENST00000706454.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516392.1", "url": "https://www.ensembl.org/id/ENSP00000516392.1" } ] } }, { "isoform_ac": "A0A9L9PY03-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVDKVSLCCPGWSAPT", "length": 482, "header": "tr|A0A9L9PY03-1|MPPB_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103318227, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706450.1", "url": "https://www.ensembl.org/id/ENST00000706450.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516388.1", "url": "https://www.ensembl.org/id/ENSP00000516388.1" } ] } }, { "isoform_ac": "F8WAZ6-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGDSCEG", "length": 202, "header": "tr|F8WAZ6-1|F8WAZ6_HUMAN Computationally mapped isoform of Peptidase, mitochondrial processing subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103308965, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456433.5", "url": "https://www.ensembl.org/id/ENST00000456433.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000397884.1", "url": "https://www.ensembl.org/id/ENSP00000397884.1" } ] } }, { "isoform_ac": "F8WBE1-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKARHQEEIPVRSGT", "length": 122, "header": "tr|F8WBE1-1|MPPB_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103300212, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443722.5", "url": "https://www.ensembl.org/id/ENST00000443722.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402859.1", "url": "https://www.ensembl.org/id/ENSP00000402859.1" } ] } }, { "isoform_ac": "F8WEA6-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKAKEIPVRSGT", "length": 119, "header": "tr|F8WEA6-1|MPPB_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103300212, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453466.1", "url": "https://www.ensembl.org/id/ENST00000453466.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000408682.1", "url": "https://www.ensembl.org/id/ENSP00000408682.1" } ] } }, { "isoform_ac": "F8WEC8-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRVSFPPGRSCPRDLARPGAAHLRVGATDPNSGSGRASSTRTRRAPGGLGLLNWPGVTGLWPPARRPASDVWDDPGFRLLPPATEECMFDH", "length": 122, "header": "tr|F8WEC8-1|F8WEC8_HUMAN Computationally mapped isoform of Peptidase, mitochondrial processing subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=4 SV=1 CANONICAL=O75439-1" }, "locus": {} }, { "isoform_ac": "G3V0E4-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGKPGFFSSMQKVGQVLLINSSF", "length": 490, "header": "tr|G3V0E4-1|G3V0E4_HUMAN Computationally mapped isoform of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=1 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103312196, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428154.5", "url": "https://www.ensembl.org/id/ENST00000428154.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390035.1", "url": "https://www.ensembl.org/id/ENSP00000390035.1" } ] } }, { "isoform_ac": "O75439-1", "url": "", "sequence": { "sequence": "MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGPIKQLPDFKQIRSNMCWLRD", "length": 489, "header": "sp|O75439-1|MPPB_HUMAN Isoform 1 of Mitochondrial-processing peptidase subunit beta OS=Homo sapiens OX=9606 GN=PMPCB PE=1 SV=2 CANONICAL=O75439-1" }, "locus": { "chromosome": "7", "start_pos": 103312268, "end_pos": 103297460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000249269.9", "url": "https://www.ensembl.org/id/ENST00000249269.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000249269.4", "url": "https://www.ensembl.org/id/ENSP00000249269.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 111, "start_aa": "Thr", "end_pos": 111, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr111", "evidence": [ { "id": "O75439", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75439" }, { "id": "36580660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36580660" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O75439", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75439" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 215, "start_aa": "Thr", "end_pos": 215, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr215", "evidence": [ { "id": "O75439", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75439" }, { "id": "36580660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36580660" }, { 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Journal of biological chemistry", "date": "2006", "authors": "Falkevall A, Alikhani N, Bhushan S, Pavlov PF, Busch K, Johnson KA, Eneqvist T, Tjernberg L, Ankarcrona M, Glaser E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16849325", "url": "https://glygen.org/publication/PubMed/16849325" } ] }, { "title": "Conserved roles of Sam50 and metaxins in VDAC biogenesis.", "journal": "EMBO reports", "date": "2007", "authors": "Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "17510655", "url": "https://glygen.org/publication/PubMed/17510655" } ] }, { "title": "Multiple pathways for sorting mitochondrial precursor proteins.", "journal": "EMBO reports", "date": "2008", "authors": "Bolender N, Sickmann A, Wagner R, Meisinger C, Pfanner N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "18174896", "url": "https://glygen.org/publication/PubMed/18174896" } ] }, { "title": "Step-size analyses of the mitochondrial Hsp70 import motor reveal the Brownian ratchet in operation.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Yamano K, Kuroyanagi-Hasegawa M, Esaki M, Yokota M, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "18678864", "url": "https://glygen.org/publication/PubMed/18678864" } ] }, { "title": "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.", "journal": 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"journal": "Biochemistry", "date": "2010", "authors": "Daithankar VN, Schaefer SA, Dong M, Bahnson BJ, Thorpe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "20593814", "url": "https://glygen.org/publication/PubMed/20593814" } ] }, { "title": "Decreased proteolytic activity of the mitochondrial amyloid-beta degrading enzyme, PreP peptidasome, in Alzheimer's disease brain mitochondria.", "journal": "Journal of Alzheimer's disease : JAD", "date": "2011", "authors": "Alikhani N, Guo L, Yan S, Du H, Pinho CM, Chen JX, Glaser E, Yan SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "21750375", "url": "https://glygen.org/publication/PubMed/21750375" } ] }, { "title": "Mitochondrial processing peptidase regulates PINK1 processing, import 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U.S.A.", "date": "1998", "authors": "Mao M, Fu G, Wu J S, Zhang Q H, Zhou J, Kan L X, Huang Q H, He K L, Gu B W, Han Z G, Shen Y, Gu J, Yu Y P, Xu S H, Wang Y X, Chen S J, Chen Z", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439" } ], "reference": [ { "type": "PubMed", "id": "9653160", "url": "https://glygen.org/publication/PubMed/9653160" } ] } ], "pathway": [ { "id": "hsa:9512", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9512", "resource": "KEGG Pathway" }, { "id": "R-HSA-1268020", "name": "Mitochondrial protein import", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020", "resource": "Reactome", "description": "Mitochondrial protein import" }, { "id": "R-HSA-8949664", "name": "Processing of SMDT1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949664", "resource": "Reactome", "description": "Processing of SMDT1" } ], "orthologs": [ { "uniprot_canonical_ac": "P10507-1", "protein_name": "Mitochondrial-processing peptidase subunit beta", "gene_name": "MAS1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MFSRTASKFRNTRRLLSTISSQIPGTRTSKLPNGLTIATEYIPNTSSATVGIFVDAGSRAENVKNNGTAHFLEHLAFKGTQNRSQQGIELEIENIGSHLNAYTSRENTVYYAKSLQEDIPKAVDILSDILTKSVLDNSAIERERDVIIRESEEVDKMYDEVVFDHLHEITYKDQPLGRTILGPIKNIKSITRTDLKDYITKNYKGDRMVLAGAGAVDHEKLVQYAQKYFGHVPKSESPVPLGSPRGPLPVFCRGERFIKENTLPTTHIAIALEGVSWSAPDYFVALATQAIVGNWDRAIGTGTNSPSPLAVAASQNGSLANSYMSFSTSYADSGLWGMYIVTDSNEHNVQLIVNEILKEWKRIKSGKISDAEVNRAKAQLKAALLLSLDGSTAIVEDIGRQVVTTGKRLSPEEVFEQVDKITKDDIIMWANYRLQNKPVSMVALGNTSTVPNVSYIEEKLNQ", "length": 462 }, "evidence": [ { "id": "O75439", "url": "https://omabrowser.org/oma/group/O75439/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q03346-1", "protein_name": "Mitochondrial-processing peptidase subunit beta", "gene_name": "Pmpcb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAAAVSRTLLPVAGRRLWGFTRRLPLRAAAAQPLYFGGDRLRSTQAAPQVVLNVPETQVTCLENGLRVASENSGISTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIVLAAAGGVCHNELLELAKFHFGDSLCAHKGDVPALPPCKFTGSEIRVRDDKMPLAHLAVAIEAVGWTHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCEQATVADMLHAVQKEWMRLCTAVSESEVARAKNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVDAEMVREVCTKYIYGKSPAIAALGPIERLPDFNQICSNMRWTRD", "length": 489 }, "evidence": [ { "id": "45925944", "url": "http://www.informatics.jax.org/homology/45925944", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CXT8-1", "protein_name": "Mitochondrial-processing peptidase subunit beta", "gene_name": "Pmpcb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAAALSRTLLPEARRRLWGFTRRLPLRRAAAQPLYFGGDRLRSTQAAPQVVLNVPETQVTCLENGLRVASENSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSRDLPRAVEILADIIQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSINRKDLVDYITTHYKGPRIVLAAAGGVCHNELLELAKFHFGDSLCSHKGAIPALPPCKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCEQATVADMLHVVQNEWKRLCTDVTESEVARAKNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVDAETVRRVCTKYIHDKSPAIAALGPIERLPDFNQICSNMRWIRD", "length": 489 }, "evidence": [ { "id": "45925944", "url": "http://www.informatics.jax.org/homology/45925944", "database": "MGI" }, { "id": "O75439", "url": "https://omabrowser.org/oma/group/O75439/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VFF0-1", "protein_name": "GH01077p", "gene_name": "UQCR-C1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MALRVLGVTQNMRSFMRGVDMIKRYKSAATLQKTLLNIPATQVTKLDNGLRVASEDSGASTATVGLWIDAGSRSENEKNNGVAHFLEHMAFKGTAKRSQTDLELEVENLGAHLNAYTSREQTVFYAKCLSKDVPKAVEILADIIQNSKLGEAEIARERSVILREMQEVESNLQEVVFDHLHATAYQGTPLGQTILGPTKNIQSIGKADLTDYIQTHYKASRIVLAAAGGVKHDDLVKLACSSLGGLEASVLPAEVTPCRFTGSEVRVRDDSLPLAHVAIAVEGCGWTDQDNIPLMVANTLVGAWDRSQGGGANNASNLARASAEDNLCHSFQSFNTCYKDTGLWGIYFVCDPLQCEDMLFNVQTEWMRLCTMVTEAEVERAKNLLKTNMLLQLDGTTPICEDIGRQILCYNRRIPLHELEQRIDAVSVGNVRDVAMKYIYDRCPAVAAVGPVENLPDYNRIRSSMYWLRV", "length": 470 }, "evidence": [ { "id": "O75439", "url": "https://omabrowser.org/oma/group/O75439/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439" } ], "pmid": "" }, { "name": "mitochondrial processing peptidase complex", "id": "GO:0017087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017087", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439" } ], "pmid": "" }, { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439" } ], "pmid": "" }, { "name": "mitochondrial calcium ion transmembrane transport", "id": "GO:0006851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006851", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439" } ], "pmid": "" }, { "name": "protein processing involved in protein targeting to mitochondrion", "id": "GO:0006627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006627", "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprot/O75439" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 163, "end_pos": 165, "annotation": "n_glycosylation_sequon" }, { "start_pos": 332, "end_pos": 334, "annotation": "n_glycosylation_sequon" }, { "start_pos": 354, "end_pos": 356, "annotation": "n_glycosylation_sequon" }, { "start_pos": 460, "end_pos": 462, "annotation": "n_glycosylation_sequon" }, { "start_pos": 97, "end_pos": 99, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-1299476", "name": "MPP cleaves targeting peptide (presequence) of inner membrane precursors", "equation": "", "summary": "As inferred from yeast, the alpha subunit of the mitochondrial processing peptidase (MPP) binds presequences of mitochondrial precursors and the beta subunit cleaves the presequence. After cleavage, proteins destined for the inner membrane are released laterally from TIMM23 SORT into the membrane.", "cellular_location": "mitochondrial inner membrane, mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06576-1", "Q96H96-1", "O75439-1", "Q86WU2-1" ], "evidence": [ { "id": "R-HSA-1299476", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299476" } ] }, { "id": "R-HSA-1299478", "name": "MPP cleaves targeting peptide (presequence) of matrix precursors", "equation": "", "summary": "As inferred from yeast, the alpha subunit of the mitochondrial processing peptidase (MPP) binds presequences of mitochondrial precursors and the beta subunit cleaves the presequence. After cleavage, proteins destined for the matrix are drawn into the matrix by ATP-dependent interaction with mtHSP70 (HSPA9, homolog of yeast SSC1) of the PAM complex.", "cellular_location": "mitochondrial inner membrane, mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00480-1", "Q16595-1", "P10809-1", "O75439-1" ], "evidence": [ { "id": "R-HSA-1299478", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299478" } ] }, { "id": "R-HSA-8949649", "name": "PMPCA:PMPCB cleaves the transit peptide of proSMDT1 (proEMRE)", "equation": "", "summary": "The mitochondrial endopeptidase PMPCA:PMPCB cleaves the transit peptide of proSMDT1 (proEMRE) yielding SMDT1 (Konig et al. 2016). Mature SMDT1 is assembled into the MCU complex where it serves to bridge the MCU pore and the MCU regulators MICU1 and MICU2 (or MICU3 in neurons).", "cellular_location": "mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Y4W6-1", "Q9UQ90-1", "O75439-1" ], "evidence": [ { "id": "R-HSA-8949649", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949649" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O75439", "gene_name": "PMPCB", "activity": [ { "ec_number": "3.4.24.64", "activity": "Release of N-terminal transit peptides from precursor proteins imported into the mitochondrion, typically with Arg in position P2.", "evidence": [ { "id": "O75439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75439" } ] }, { "ec_number": "3.4.24.64", "activity": "", "evidence": [ { "id": "O75439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75439" } ] } ] }, { "uniprot_ac": "P00480", "gene_name": "OTC", "activity": [ { "ec_number": "2.1.3.3", "activity": "carbamoyl phosphate + L-ornithine = H(+) + L-citrulline + phosphate.", "evidence": [ { "id": "P00480", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00480" } ] }, { "ec_number": "2.1.3.3", "activity": "", "evidence": [ { "id": "P00480", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00480" } ] } ] }, { "uniprot_ac": "P06576", "gene_name": "ATP5F1B", "activity": [ { "ec_number": "7.1.2.2", "activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] }, { "ec_number": "7.1.2.2", "activity": "", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] } ] }, { "uniprot_ac": "P10809", "gene_name": "HSPD1", "activity": [ { "ec_number": "5.6.1.7", "activity": "ATP + H2O + a folded polypeptide = ADP + phosphate + an unfolded polypeptide.", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] }, { "ec_number": "5.6.1.7", "activity": "", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] } ] }, { "uniprot_ac": "Q16595", "gene_name": "FXN", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "Q16595", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16595" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "Q16595", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16595" } ] } ] }, { "uniprot_ac": "Q86WU2", "gene_name": "LDHD", "activity": [ { "ec_number": "1.1.2.4", "activity": "(R)-lactate + 2 Fe(III)-[cytochrome c] = 2 Fe(II)-[cytochrome c] + 2 H(+) + pyruvate.", "evidence": [ { "id": "Q86WU2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86WU2" } ] }, { "ec_number": "1.1.2.4", "activity": "", "evidence": [ { "id": "Q86WU2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86WU2" } ] } ] }, { "uniprot_ac": "Q96H96", "gene_name": "COQ2", "activity": [ { "ec_number": "2.5.1.39", "activity": "4-hydroxybenzoate + all-trans-nonaprenyl diphosphate = 4-hydroxy-3-all-trans-nonaprenylbenzoate + diphosphate.", "evidence": [ { "id": "Q96H96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96H96" } ] }, { "ec_number": "2.5.1.39", "activity": "", "evidence": [ { "id": "Q96H96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96H96" } ] } ] }, { "uniprot_ac": "Q9UQ90", "gene_name": "SPG7", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9UQ90", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UQ90" } ] } ] }, { "uniprot_ac": "Q9Y4W6", "gene_name": "AFG3L2", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9Y4W6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y4W6" } ] } ] } ], "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": [ 111, 215, 220 ], "snv_sites": [ 56, 113, 127, 413, 432 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 163, "end_pos": 165 }, { "start_pos": 332, "end_pos": 334 }, { "start_pos": 354, "end_pos": 356 }, { "start_pos": 460, "end_pos": 462 }, { "start_pos": 97, "end_pos": 99 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "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": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "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": 3 } 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