{ "uniprot_canonical_ac": "Q9H019-1", "uniprot_ac": "Q9H019", "uniprot_id": "MFR1L_HUMAN", "mass": { "chemical_mass": 31957.0, "monoisotopic_mass": 31957.0 }, "refseq": { "ac": "NP_001093095", "name": "mitochondrial fission regulator 1-like isoform a", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093095" }, "gene_names": [ { "name": "MTFR1L", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H019", "id": "Q9H019" }, { "name": "FAM54B; HYST1888; MST116; MSTP116", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093095", "id": "NP_001093095" }, { "name": "FAM54B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H019", "id": "Q9H019" }, { "name": "HYST1888", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H019", "id": "Q9H019" }, { "name": "MSTP116", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H019", "id": "Q9H019" }, { "name": "MTFR1L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093095", "id": "NP_001093095" } ], "protein_names": [ { "name": "Mitochondrial fission regulator 1-like", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H019" }, { "name": "mitochondrial fission regulator 1-like isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093095", "id": "NP_001093095" }, { "name": "protein FAM54B; family with sequence similarity 54 member B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093095", "id": "NP_001093095" } ], "function": [ { "annotation": "Plays a role in mitochondrial aerobic respiration. Regulates mitochondrial organization and fission.", "evidence": [ { "database": "UniProtKB", "id": "E9PRK5", "url": "https://www.uniprot.org/uniprot/E9PRK5#function" }, { "database": "UniProtKB", "id": "RU369053", "url": "https://www.uniprot.org/uniprot/RU369053#function" }, { "database": "UniProtKB", "id": "E9PPQ0", "url": "https://www.uniprot.org/uniprot/E9PPQ0#function" }, { "database": "UniProtKB", "id": "E9PRW1", "url": "https://www.uniprot.org/uniprot/E9PRW1#function" }, { "database": "UniProtKB", "id": "E9PPF9", "url": "https://www.uniprot.org/uniprot/E9PPF9#function" }, { "database": "UniProtKB", "id": "C9JF50", "url": "https://www.uniprot.org/uniprot/C9JF50#function" }, { "database": "UniProtKB", "id": "E9PLU1", "url": "https://www.uniprot.org/uniprot/E9PLU1#function" }, { "database": "UniProtKB", "id": "E9PLD2", "url": "https://www.uniprot.org/uniprot/E9PLD2#function" }, { "database": "UniProtKB", "id": "E9PSD6", "url": "https://www.uniprot.org/uniprot/E9PSD6#function" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117640", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117640" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9H019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H019" } ], "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 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"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", 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"https://www.ensembl.org/id/ENSP00000435553.1" } ] } }, { "isoform_ac": "E9PLD2-1", "url": "", "sequence": { "sequence": "MQRNASVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADAASASLTPDFLSPGSSNVSSPLPCFGSSFHSTTSFVISDITEETEVEVPELPSVPLLCSASPECCKPEHKAACSSSEEDDCVSLSKASSFADMMGILKDFHRMKQSQDLNRSLLKEEDPAVLISEVLRRKFALKEEDISRKGN", "length": 195, "header": "tr|E9PLD2-1|E9PLD2_HUMAN Computationally mapped isoform of Mitochondrial fission regulator OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=1 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25832023, "end_pos": 25826667, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524618.5", "url": "https://www.ensembl.org/id/ENST00000524618.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435193.1", "url": "https://www.ensembl.org/id/ENSP00000435193.1" } ] } }, { "isoform_ac": "E9PLU1-1", "url": "", "sequence": { "sequence": "MSGMEATVTIPIWQNKPHGAARSVVRRIGTNLPLKPCARASFETLPNISDLCLRDVPPVPTLADIAWIAADEEETYARVRSDTRPLRHTWKPSPLIVMQRNASVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADAASASLTPDFLSPGSSNVSSP", "length": 170, "header": "tr|E9PLU1-1|E9PLU1_HUMAN Computationally mapped isoform of Mitochondrial fission regulator OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=1 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25829567, "end_pos": 25823105, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526158.5", "url": "https://www.ensembl.org/id/ENST00000526158.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431278.1", "url": "https://www.ensembl.org/id/ENSP00000431278.1" } ] } }, { "isoform_ac": "E9PNJ0-1", "url": "", "sequence": { "sequence": "MQRNASVPNLRGS", "length": 13, "header": "tr|E9PNJ0-1|E9PNJ0_HUMAN Computationally mapped isoform of Mitochondrial fission regulator 1 like OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=1 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25826705, "end_pos": 25826667, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533762.5", "url": "https://www.ensembl.org/id/ENST00000533762.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434773.1", "url": "https://www.ensembl.org/id/ENSP00000434773.1" } ] } }, { "isoform_ac": "E9PPF9-1", "url": "", "sequence": { "sequence": "MQRNASVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADAASASLTPDFLSPGSSNVSSPLPCFGSSFHSTTSFVISDITEETEVEVPELPSVPLLCSASPECCKPEHKAACSSSEEDDCVSLSKASSFADMMGILKDFHRMKQSQD", "length": 160, "header": "tr|E9PPF9-1|MFR1L_HUMAN Computationally mapped isoform of Mitochondrial fission regulator 1-like OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=1 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25829828, "end_pos": 25826667, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000472643.5", "url": "https://www.ensembl.org/id/ENST00000472643.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432719.1", "url": "https://www.ensembl.org/id/ENSP00000432719.1" } ] } }, { "isoform_ac": "E9PPQ0-1", "url": "", "sequence": { "sequence": "MQRNASVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADA", "length": 53, "header": "tr|E9PPQ0-1|E9PPQ0_HUMAN Computationally mapped isoform of Mitochondrial fission regulator OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=1 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25826825, "end_pos": 25826667, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488327.6", "url": "https://www.ensembl.org/id/ENST00000488327.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000436954.1", "url": "https://www.ensembl.org/id/ENSP00000436954.1" } ] } }, { "isoform_ac": "E9PRK5-1", "url": "", "sequence": { "sequence": "MSGMEATVTIPIWQNKPHGAARSVVRRIGTNLPLKPCARASFETLPNISDLCLRDVPPVPTLADIAWIAADEEETYARVRSDTRPLRHTWKPSPLIVMQRNASVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADAALNVANQNTKLPAVRLKRMTASLCPRPAALQT", "length": 182, "header": "tr|E9PRK5-1|MFR1L_HUMAN Computationally mapped isoform of Mitochondrial fission regulator 1-like OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=1 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25829781, "end_pos": 25823105, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526894.5", "url": "https://www.ensembl.org/id/ENST00000526894.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432227.1", "url": "https://www.ensembl.org/id/ENSP00000432227.1" } ] } }, { "isoform_ac": "E9PRW1-1", "url": "", "sequence": { "sequence": "MSGMEATVTIPIWQNKPHGAARSVVRRIGTNLPLKPCARASFETLPNISDLCLRDVPPVPTLADIAWIAADEEETYARVRSDTRPLRHTWKPSPLIVMQRNASVPNLRGS", "length": 110, "header": "tr|E9PRW1-1|E9PRW1_HUMAN Computationally mapped isoform of Mitochondrial fission regulator OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=1 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25826705, "end_pos": 25823105, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525713.5", "url": "https://www.ensembl.org/id/ENST00000525713.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434120.1", "url": "https://www.ensembl.org/id/ENSP00000434120.1" } ] } }, { "isoform_ac": "E9PSD6-1", "url": "", "sequence": { "sequence": "MSGMEATVTIPIWQNKPHGAARSVVRRIGTNLPLKPCARASFETLPNISDLCLRDVPPVPTLADIAWIAADEEETYARVRSDTRPLRHTWKPSPLIVMQRNASVPNLRGSEERLL", "length": 115, "header": "tr|E9PSD6-1|E9PSD6_HUMAN Computationally mapped isoform of Mitochondrial fission regulator OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=1 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25826720, "end_pos": 25823105, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529116.5", "url": "https://www.ensembl.org/id/ENST00000529116.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434038.1", "url": "https://www.ensembl.org/id/ENSP00000434038.1" } ] } }, { "isoform_ac": "Q9H019-1", "url": "", "sequence": { "sequence": "MSGMEATVTIPIWQNKPHGAARSVVRRIGTNLPLKPCARASFETLPNISDLCLRDVPPVPTLADIAWIAADEEETYARVRSDTRPLRHTWKPSPLIVMQRNASVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADAASASLTPDFLSPGSSNVSSPLPCFGSSFHSTTSFVISDITEETEVEVPELPSVPLLCSASPECCKPEHKAACSSSEEDDCVSLSKASSFADMMGILKDFHRMKQSQDLNRSLLKEEDPAVLISEVLRRKFALKEEDISRKGN", "length": 292, "header": "sp|Q9H019-1|MFR1L_HUMAN Isoform 1 of Mitochondrial fission regulator 1-like OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=2 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25832023, "end_pos": 25823105, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374301.7", "url": "https://www.ensembl.org/id/ENST00000374301.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000363419.3", "url": "https://www.ensembl.org/id/ENSP00000363419.3" } ] } }, { "isoform_ac": "Q9H019-2", "url": "", "sequence": { "sequence": "MSGMEATVTIPIWQNKPHGAARSVVRRIGTNLPLKPCARASFETLPNISDLCLRDVPPVPTLADIAWIAADEEETYARVRSDTRPLRHTWKPSPLIVMQRNASVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADAVTSPRRQRWRSLSFHQSPCFVLPALNVANQNTKLPAVRLKRMTASLCPRPAALQT", "length": 205, "header": "sp|Q9H019-2|MFR1L_HUMAN Isoform 2 of Mitochondrial fission regulator 1-like OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=2 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25829781, "end_pos": 25823105, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466284.1", "url": "https://www.ensembl.org/id/ENST00000466284.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000434751.1", "url": "https://www.ensembl.org/id/ENSP00000434751.1" } ] } }, { "isoform_ac": "Q9H019-3", "url": "", "sequence": { "sequence": "MSGMEATVTIPIWQNKPHGAARSVVRRIGTNLPLKPCARASFETLPNISDLCLRDVPPVPTLADIAWIAADEEETYARVRSDTRPLRHTWKPSPLIVMQRNASVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADAGSSNVSSPLPCFGSSFHSTTSFVISDITEETEVEVPELPSVPLLCSASPECCKPEHKAACSSSEEDDCVSLSKASSFADMMGILKDFHRMKQSQDLNRSLLKEEDPAVLISEVLRRKFALKEEDISRKGN", "length": 280, "header": "sp|Q9H019-3|MFR1L_HUMAN Isoform 3 of Mitochondrial fission regulator 1-like OS=Homo sapiens OX=9606 GN=MTFR1L PE=1 SV=2 CANONICAL=Q9H019-1" }, "locus": { "chromosome": "1", "start_pos": 25832023, "end_pos": 25823105, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374307.9", "url": "https://www.ensembl.org/id/ENST00000374307.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000363426.5", "url": "https://www.ensembl.org/id/ENSP00000363426.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9H019", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H019" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "phosphorylation": [ { "start_pos": 103, "end_pos": 103, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser103" }, { "start_pos": 110, "end_pos": 110, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" } ], "site_lbl": "Ser110" }, { "start_pos": 224, "end_pos": 224, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" } ], "site_lbl": "Ser224" }, { "start_pos": 225, "end_pos": 225, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" } ], "site_lbl": "Ser225" }, { "start_pos": 238, "end_pos": 238, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser238" }, { "start_pos": 255, "end_pos": 255, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser255" }, { "start_pos": 261, "end_pos": 261, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser261" }, { "start_pos": 273, "end_pos": 273, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" } ], "site_lbl": "Ser273" }, { "start_pos": 30, "end_pos": 30, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" } ], "site_lbl": "Thr30" }, { "start_pos": 41, "end_pos": 41, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser41" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.", "journal": "Oncogene", "date": "2004", "authors": "Yamada S, Ohira M, Horie H, Ando K, Takayasu H, Suzuki Y, Sugano S, Hirata T, Goto T, Matsunaga T, Hiyama E, Hayashi Y, Ando H, Suita S, Kaneko M, Sasaki F, Hashizume K, Ohnuma N, Nakagawara A", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" } ], "reference": [ { "type": "PubMed", "id": "15221005", "url": "https://glygen.org/publication/PubMed/15221005" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "Q9H019-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q9H019-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q9H019-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "Q9H019-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "iPTMnet", "id": "Q9H019-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q9H019-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Phosphoproteomic analysis of primary human multiple myeloma cells.", "journal": "Journal of proteomics", "date": "2010", "authors": "Ge F, Xiao CL, Yin XF, Lu CH, Zeng HL, He QY", "evidence": [ { "database": "iPTMnet", "id": "Q9H019-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019-1" } ], "reference": [ { "type": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q9H019", "url": "https://www.uniprot.org/uniprot/Q9H019" }, { "database": "iPTMnet", "id": "Q9H019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H019" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell 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