{ "uniprot_canonical_ac": "A0A0G2K7D7-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A0G2K7D7-1|A0A0G2K7D7_RAT Isoform 1 of Asparaginyl-tRNA synthetase 2, mitochondrial OS=Rattus norvegicus OX=10116 GN=Nars2 PE=1 SV=1 CANONICAL=A0A0G2K7D7-1", "length": 442, "sequence": "MLGARRLLGALRLCSSVSCPRPRATAKLRVRDALGVQDASGECVTVQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSSFDSRELAFGSSVQVQGQLVKSQSKRQNVELKAEKIEVVGTCEAKAFPIKYKERHPLEYLRQYPHLRCRTNALGSILRVRSEATAAIHSYFKDNGFMHIHTPVLTSNDCEGAGELFQVEPSSKIKVPEENFFDVPAFLTVSGQLHLEVMSGAFTQVFTFGPTFRAENSQSRRHLAEFYMVEAEVSFVESLQDLMQVMEGLFKATTEMVLSHCPEDVELCHQFIASGQKWGVDLQTEHEKYLVRHCGNIPVFVINYPSELKPFYMRENEDDPQNTVAAVDLLVPGVGELFGGSLREERYHVLEQRLARSGLTKAYQWYLDLRKFGSVPHGGFGMGFERYLQCILGVDNIKDVIPFPRFTHSCLL" }, "uniprot_id": "A0A0G2K7D7_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "id": "A0A0G2K7D7", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [], "uniprot_ac": "A0A0G2K7D7", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7#A0A0G2K7D7-1", "isoform_ac": "A0A0G2K7D7-1", "locus": { "end_pos": 161922436, "strand": "-", "start_pos": 162034499, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000078300", "id": "ENSRNOT00000078300", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000074162", "id": "ENSRNOP00000074162", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2K7D7-1|A0A0G2K7D7_RAT Isoform 1 of Asparaginyl-tRNA synthetase 2, mitochondrial OS=Rattus norvegicus OX=10116 GN=Nars2 PE=1 SV=1 CANONICAL=A0A0G2K7D7-1", "length": 442, "sequence": "MLGARRLLGALRLCSSVSCPRPRATAKLRVRDALGVQDASGECVTVQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSSFDSRELAFGSSVQVQGQLVKSQSKRQNVELKAEKIEVVGTCEAKAFPIKYKERHPLEYLRQYPHLRCRTNALGSILRVRSEATAAIHSYFKDNGFMHIHTPVLTSNDCEGAGELFQVEPSSKIKVPEENFFDVPAFLTVSGQLHLEVMSGAFTQVFTFGPTFRAENSQSRRHLAEFYMVEAEVSFVESLQDLMQVMEGLFKATTEMVLSHCPEDVELCHQFIASGQKWGVDLQTEHEKYLVRHCGNIPVFVINYPSELKPFYMRENEDDPQNTVAAVDLLVPGVGELFGGSLREERYHVLEQRLARSGLTKAYQWYLDLRKFGSVPHGGFGMGFERYLQCILGVDNIKDVIPFPRFTHSCLL" } }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7#F1LNQ5-1", "isoform_ac": "F1LNQ5-1", "locus": { "end_pos": 161922436, "strand": "-", "start_pos": 162006604, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000015784", "id": "ENSRNOT00000015784", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000015784", "id": "ENSRNOP00000015784", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F1LNQ5-1|A0A0G2K7D7_RAT Computationally mapped isoform of Asparaginyl-tRNA synthetase 2, mitochondrial OS=Rattus norvegicus OX=10116 GN=Nars2 PE=1 SV=3 CANONICAL=A0A0G2K7D7-1", "length": 390, "sequence": "MLGARRLLGALRLCSSVSCPRPRATAKLRVRDALGVQDASGECVTVQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSSFDSRELAFGSSVQVQGQLVKSQSKRQNVELKAEKIEVVGTCEAKAFPIKYKERHPLEYLRQYPHLRCRTNALGSILRVRSEATAAIHSYFKDNGFMHIHTPVLTSNDCEGAGELFQVEPSSKIKVPEENFFDVPAFLTVSGQLHLEVMSGAFTQVFTFGPTFRAENSQSRRHLAEFYMVEAEVSFVESLQDLMQVMEGLFKATTEMVLSHCPEDVELCHQFIASGQKDRLEHMLKNFLIISYAEAIEILKQASQNFTFTPKWGVDLQTEHEKYLVRHCGNIPVFVINYPSELKPFYMRENEDDPQNTEVA" } } ], "pathway": [], "function": [], "orthologs": [ { "uniprot_canonical_ac": "Q8BGV0-1", "protein_name": "Probable asparagine--tRNA ligase, mitochondrial", "sequence": { "length": 477, "sequence": "MLGARRLLGALRLCSSVSCPRPRASAKMRVRDALRVQDARGECVTVQGWIRSVRSQKEVLFLHVNDGSSLESLQIVADSSFDSRELTFGSSVQVQGQLVKSQSKRQNVELKAEKIEVIGDCEAKAFPIKYKERHPLEYLRQYPHLRCRTNALGSILRVRSEATAAIHSYFKDNGFVHIHTPVLTSNDCEGAGELFQVEPSSKIKGPKESFFDVPAFLTVSGQLHLEVMSGAFTQVFTFGPTFRAENSQSRRHLAEFYMVEAEISFVESLQDLMQVMEELFKATTEMVLSHCPEDVELCHQFIAAGQKGRLEHMLKNNFLIISYTEAIEILKQASQNFAFTPKWGVDLQTEHEKYLVRHCGNIPVFVINYPSELKPFYMRENEDGPQNTVAAVDLLVPGVGELFGGSLREERYHVLEQRLARSGLTKAYQWYLDLRKFGSVPHGGFGMGFERYLQCILGVDNIKDVIPFPRFTHSCLL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0A0G2K7D7/", "id": "A0A0G2K7D7", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/57002", "id": "57002", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Nars2", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q96I59-1", "protein_name": "Probable asparagine--tRNA ligase, mitochondrial", "sequence": { "length": 477, "sequence": "MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRSEATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHLEVMSGAFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLIISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVGELFGGGLREERYHFLEERLARSGLTEVYQWYLDLRRFGSVPHGGFGMGFERYLQCILGVDNIKDVIPFPRFPHSCLL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0A0G2K7D7/", "id": "A0A0G2K7D7", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/57002", "id": "57002", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "NARS2", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_017444438.1", "ac": "XP_017444438.1", "name": "probable asparagine--tRNA ligase, mitochondrial isoform X2", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "id": "A0A0G2K7D7", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "id": "A0A0G2K7D7", "database": "UniProtKB" } ], "name": "nucleic acid binding", "id": "GO:0003676" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004812", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "id": "A0A0G2K7D7", "database": "UniProtKB" } ], "name": "aminoacyl-tRNA ligase activity", "id": "GO:0004812" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "id": "A0A0G2K7D7", "database": "UniProtKB" } ], "name": "nucleoplasm", "id": "GO:0005654" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "id": "A0A0G2K7D7", "database": "UniProtKB" } ], "name": "mitochondrion", "id": "GO:0005739" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "id": "A0A0G2K7D7", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006418", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "id": "A0A0G2K7D7", "database": "UniProtKB" } ], "name": "tRNA aminoacylation for protein translation", "id": "GO:0006418" } ], "total": 1, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K7D7", "type": "synonym", "resource": "RefSeq", "name": "Nars2" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "type": "recommended", "resource": "UniProtKB", "name": "Nars2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K7D7", "type": "synonym", "resource": "RefSeq", "name": "RGD1305145" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000011476", "id": "ENSRNOG00000011476", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/293128", "id": "293128", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR002312", "id": "IPR002312", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004364", "id": "IPR004364", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004365", "id": "IPR004365", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR006195", "id": "IPR006195", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR012340", "id": "IPR012340", "database": "InterPro" }, { "url": "https://omabrowser.org/oma/group/DNMDLAE/", "id": "DNMDLAE", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1056670at2759", "id": "1056670at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00152", "id": "PF00152", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF01336", "id": "PF01336", "database": "Pfam" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_017444438.1", "id": "XP_017444438.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1305145", "id": "1305145", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "id": "A0A0G2K7D7", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0014547", "url": "https://monarchinitiative.org/disease/MONDO:0014547", "resource": "MONDO", "name": "combined oxidative phosphorylation defect type 24", "description": "" }, { "id": "MONDO:0014547", "url": "https://monarchinitiative.org/disease/MONDO:0014547", "resource": "MONDO", "name": "NARS2 combined oxidative phosphorylation deficiency", "description": "" }, { "id": "MONDO:0014547", "url": "https://monarchinitiative.org/disease/MONDO:0014547", "resource": "MONDO", "name": "combined oxidative phosphorylation deficiency type 24", "description": "" }, { "id": "MONDO:0014547", "url": "https://monarchinitiative.org/disease/MONDO:0014547", "resource": "MONDO", "name": "combined oxidative phosphorylation deficiency caused by mutation in NARS2", "description": "" }, { "id": "MONDO:0014547", "url": "https://monarchinitiative.org/disease/MONDO:0014547", "resource": "MONDO", "name": "combined oxidative phosphorylation deficiency 24; COXPD24", "description": "" }, { "id": "MONDO:0014547", "url": "https://monarchinitiative.org/disease/MONDO:0014547", "resource": "MONDO", "name": "COXPD24", "description": "" }, { "id": "DOID:0111485", "url": "http://disease-ontology.org/term/DOID:0111485", "resource": "Disease Ontology", "name": "COXPD24", "description": "" } ], "recommended_name": { "id": "DOID:0111485", "url": "http://disease-ontology.org/term/DOID:0111485", "resource": "Disease Ontology", "name": "combined oxidative phosphorylation deficiency 24", "description": "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111485#disease-associations", "id": "0111485", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:0111641", "url": "http://disease-ontology.org/term/DOID:0111641", "resource": "Disease Ontology", "name": "DFNB94", "description": "" }, { "id": "DOID:0111641", "url": "http://disease-ontology.org/term/DOID:0111641", "resource": "Disease Ontology", "name": "autosomal recessive deafness 94", "description": "" } ], "recommended_name": { "id": "DOID:0111641", "url": "http://disease-ontology.org/term/DOID:0111641", "resource": "Disease Ontology", "name": "autosomal recessive nonsyndromic deafness 94", "description": "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111641#disease-associations", "id": "0111641", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 49759.0, "chemical_mass": 49759.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7", "name": "Nars2", "locus": { "end_pos": 162034700, "strand": "+", "start_pos": 161922141, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000011476", "id": "ENSRNOG00000011476", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K7D7#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Asparaginyl-tRNA synthetase 2, mitochondrial" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K7D7", "type": "synonym", "resource": "RefSeq", "name": "probable asparagine--tRNA ligase, mitochondrial isoform X2" } ] }