{ "uniprot_canonical_ac": "A2VEI2-1", "uniprot_ac": "A2VEI2", "uniprot_id": "MICU1_DROME", "mass": { "chemical_mass": 60344.0, "monoisotopic_mass": 60344.0 }, "refseq": { "ac": "NP_001097110", "name": "mitochondrial calcium uptake 1, isoform B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097110" }, "gene_names": [ { "name": "MICU1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2VEI2", "id": "A2VEI2" }, { "name": "CG4495; Dmel\\CG4495; micu1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097110", "id": "NP_001097110" }, { "name": "CG4495", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2VEI2", "id": "A2VEI2" }, { "name": "MICU1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097110", "id": "NP_001097110" } ], "protein_names": [ { "name": "Calcium uptake protein 1 homolog, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A2VEI2/entry#names_and_taxonomy", "id": "A2VEI2" }, { "name": "CG4495-PB; MICU1-PB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097110", "id": "NP_001097110" }, { "name": "Mitochondrial calcium uptake 1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A2VEI2/entry#names_and_taxonomy", "id": "A2VEI2" }, { "name": "mitochondrial calcium uptake 1, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097110", "id": "NP_001097110" } ], "function": [ { "annotation": "Key regulator of mitochondrial calcium uniporter (MCU) that senses calcium level via its EF-hand domains (Probable). During development, required in alpha/beta or gamma mushroom body neurons to support olfactory intermediate-term memory in the adult (PubMed:27568554).", "evidence": [ { "database": "UniProtKB", "id": "A2VEI2", "url": "https://www.uniprot.org/uniprot/A2VEI2#function" }, { "database": "PubMed", "id": "27568554", "url": "https://glygen.org/publication/PubMed/27568554" } ] } ], "disease": [ { "disease_id": "DOID:0111335", "recommended_name": { "id": "DOID:0111335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111335", "name": "myopathy with extrapyramidal signs", "description": "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1." }, "synonyms": [ { "id": "DOID:0111335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111335", "name": "MPXPS", "description": "" }, { "id": "DOID:0111335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111335", "name": "proximal myopathy with extrapyramidal signs", "description": "" }, { "id": "MONDO:0014300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014300", "name": "proximal myopathy with extrapyramidal signs", "description": "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." }, { "id": "MONDO:0014300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014300", "name": "MPXPS", "description": "" }, { "id": "MONDO:0014300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014300", "name": "myopathy with extrapyramidal signs", "description": "" }, { "id": "MIM:615673", "resource": "MIM", "url": "https://www.omim.org/entry/615673", "name": "Myopathy with extrapyramidal signs", "description": "Myopathy with extrapyramidal signs" } ], "evidence": [ { "id": "0111335", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111335" } ] }, { "disease_id": "DOID:1289", "recommended_name": { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons." }, "synonyms": [ { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "degenerative disease", "description": "" } ], "evidence": [ { "id": "1289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A2VEI2", "url": "https://www.uniprot.org/uniprot/A2VEI2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "gene": [ { "name": "MICU1", "url": "https://www.uniprot.org/uniprot/A2VEI2", "locus": { "chromosome": "2L", "start_pos": 7185529, "end_pos": 7182234, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0031893", "url": "https://www.ensembl.org/id/FBgn0031893" } ] } } ], "crossref": [ { "id": "FBgn0031893", "url": "https://bgee.org/?page=gene&gene_id=FBgn0031893", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd15900", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15900", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0031893", "url": "https://flybase.org/reports/FBgn0031893", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "33999", "url": "https://www.ncbi.nlm.nih.gov/gene/33999", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR002048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002048", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011992", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011992", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018247", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018247", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039800", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039800", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG4495", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG4495", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "ALGNIRQ", "url": "https://omabrowser.org/oma/group/ALGNIRQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1020411at2759", "url": "http://www.orthodb.org/?query=1020411at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12294", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12294", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12294:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12294:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13202", "url": "http://pfam.xfam.org/family/PF13202", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13833", "url": "http://pfam.xfam.org/family/PF13833", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_A2VEI2", "url": "http://purl.obolibrary.org/obo/PR_A2VEI2", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8949215", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-8949664", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8949664", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001097110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001097110", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A2VEI2", "url": "https://www.uniprot.org/uniprot/A2VEI2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2VEI2-1", "url": "https://www.uniprot.org/uniprot/A2VEI2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2VEI2-2", "url": "https://www.uniprot.org/uniprot/A2VEI2-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSVLRFLVTRQALAALTRPRTLNIIQNPAQIAYASTLCNQNSNHNAKDLTKSSANLSLMQTRGHKRFGHQEEKTPSVTKYFHMFILSLFLISVMDWGKVKRMLTPKVDADAGQRPSSAADVNGEDKSSESESEDSEDEEAGSDLHLHEGKKIREKVGFRERKIIEYENRIRQFSTPDKVFRYFATIQVPVADDRHEVYMTPTDFLTSMTPGMKQPDGLGLDQYRRYDPKSVGEQLNLHLEKNSIFYKLGSYGLITFSDYIFLLTVLSISRRHFEIAFRMFDLNGDGDVDCEEFEMVATLVRQQTSMGTRHRDHANTGNTFKGVNSALITYFFGPNMDEKLTIEKFLDFQEQLQREILSLEFERKEPNDEGNITEADFAELLLAYAGYPLKKKQKKLKRVKRRFRDHGKGISKQDYLDFFHFLNNINDVDTALTFYHIAGASIDQQTLQHVAKTVAMVNLSDHVVDVVFTIFDENNDNQLSNKEFISVMKNRVQRGLEKPKDTGFLKMMRSVFKCAKETKPVLLDI", "length": 525, "header": "sp|A2VEI2-1|MICU1_DROME Isoform 1 of Calcium uptake protein 1 homolog, mitochondrial OS=Drosophila melanogaster OX=7227 GN=MICU1 PE=2 SV=1 CANONICAL=A2VEI2-1" }, "isoforms": [ { "isoform_ac": "A2VEI2-1", "url": "https://www.uniprot.org/uniprotkb/A2VEI2/entry#A2VEI2-1", "sequence": { "sequence": "MSVLRFLVTRQALAALTRPRTLNIIQNPAQIAYASTLCNQNSNHNAKDLTKSSANLSLMQTRGHKRFGHQEEKTPSVTKYFHMFILSLFLISVMDWGKVKRMLTPKVDADAGQRPSSAADVNGEDKSSESESEDSEDEEAGSDLHLHEGKKIREKVGFRERKIIEYENRIRQFSTPDKVFRYFATIQVPVADDRHEVYMTPTDFLTSMTPGMKQPDGLGLDQYRRYDPKSVGEQLNLHLEKNSIFYKLGSYGLITFSDYIFLLTVLSISRRHFEIAFRMFDLNGDGDVDCEEFEMVATLVRQQTSMGTRHRDHANTGNTFKGVNSALITYFFGPNMDEKLTIEKFLDFQEQLQREILSLEFERKEPNDEGNITEADFAELLLAYAGYPLKKKQKKLKRVKRRFRDHGKGISKQDYLDFFHFLNNINDVDTALTFYHIAGASIDQQTLQHVAKTVAMVNLSDHVVDVVFTIFDENNDNQLSNKEFISVMKNRVQRGLEKPKDTGFLKMMRSVFKCAKETKPVLLDI", "length": 525, "header": "sp|A2VEI2-1|MICU1_DROME Isoform 1 of Calcium uptake protein 1 homolog, mitochondrial OS=Drosophila melanogaster OX=7227 GN=MICU1 PE=2 SV=1 CANONICAL=A2VEI2-1" }, "locus": { "chromosome": "2L", "start_pos": 7185289, "end_pos": 7182347, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0113028", "url": "https://www.ensembl.org/id/FBtr0113028" }, { "database": "Ensembl Peptide", "id": "FBpp0111941", "url": "https://www.ensembl.org/id/FBpp0111941" } ] } }, { "isoform_ac": "A2VEI2-2", "url": "https://www.uniprot.org/uniprotkb/A2VEI2/entry#A2VEI2-2", "sequence": { "sequence": "MSVLRFLVTRQALAALTRPRTLNIIQNPAQIAYASTLCNQNSNHNAKDLTKSSANLSLMQTRGHKRFGHQEEKTPSVTKYFHMFILSLFLISVMDWGKVKRMLTPKVDADAGQRPSSAADVNGEDKSSESESEDSEDEEAGSDLHLHEGKKIREKVGFRERKIIEYENRIRQFSTPDKIFRYFATVRLQDATQTIVCMTPEDFLRSIYPGIKQPDGLGLDQYRRYDPKSVGEQLNLHLEKNSIFYKLGSYGLITFSDYIFLLTVLSISRRHFEIAFRMFDLNGDGDVDCEEFEMVATLVRQQTSMGTRHRDHANTGNTFKGVNSALITYFFGPNMDEKLTIEKFLDFQEQLQREILSLEFERKEPNDEGNITEADFAELLLAYAGYPLKKKQKKLKRVKRRFRDHGKGISKQDYLDFFHFLNNINDVDTALTFYHIAGASIDQQTLQHVAKTVAMVNLSDHVVDVVFTIFDENNDNQLSNKEFISVMKNRVQRGLEKPKDTGFLKMMRSVFKCAKETKPVLLDI", "length": 524, "header": "sp|A2VEI2-2|MICU1_DROME Isoform 2 of Calcium uptake protein 1 homolog, mitochondrial OS=Drosophila melanogaster OX=7227 GN=MICU1 PE=2 SV=1 CANONICAL=A2VEI2-1" }, "locus": { "chromosome": "2L", "start_pos": 7185289, "end_pos": 7182347, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0079405", "url": "https://www.ensembl.org/id/FBtr0079405" }, { "database": "Ensembl Peptide", "id": "FBpp0079033", "url": "https://www.ensembl.org/id/FBpp0079033" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "A2VEI2", "url": "https://www.uniprot.org/uniprot/A2VEI2" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "A Drosophila full-length cDNA resource.", "journal": "Genome Biol.", "date": "2002", "authors": "Stapleton M, Carlson J, Brokstein P, Yu C, Champe M, George R, Guarin H, Kronmiller B, Pacleb J, Park S, Wan K, Rubin GM, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "A2VEI2", "url": "https://www.uniprot.org/uniprot/A2VEI2" } ], "reference": [ { "type": "PubMed", "id": "12537569", "url": "https://glygen.org/publication/PubMed/12537569" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "A2VEI2", "url": "https://www.uniprot.org/uniprot/A2VEI2" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "Inhibiting the Mitochondrial Calcium Uniporter during Development Impairs Memory in Adult Drosophila.", "journal": "Cell reports", "date": "2016", "authors": "Drago I, Davis RL", "evidence": [ { "database": "UniProtKB", "id": "A2VEI2", "url": "https://www.uniprot.org/uniprot/A2VEI2" } ], "reference": [ { "type": "PubMed", "id": "27568554", "url": "https://glygen.org/publication/PubMed/27568554" } ] } ], "pathway": [ { "id": "dme:Dmel_CG4495", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG4495", "resource": "KEGG Pathway" }, { "id": "R-DME-8949215", "name": "Mitochondrial calcium ion transport", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8949215", "resource": "Reactome", "description": "Mitochondrial calcium ion transport" }, { "id": "R-DME-8949664", "name": "Processing of SMDT1", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8949664", 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