InnateDB Protein
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IDBP-92379.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MTO1
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Protein Name
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mitochondrial translation optimization 1 homolog (S. cerevisiae)
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Synonyms
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COXPD10;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359328
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InnateDB Gene
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IDBG-92375 (MTO1)
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Protein Structure
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Function |
Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs. {ECO:0000269PubMed:12011058}.
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Subcellular Localization |
Mitochondrion {ECO:0000250}.
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Disease Associations |
Combined oxidative phosphorylation deficiency 10 (COXPD10) [MIM:614702]: An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases. {ECO:0000269PubMed:22608499}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitously expressed in various tissues, but with a markedly elevated expression in tissues of high metabolic rates including cochlea. {ECO:0000269PubMed:12011058}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002218
Glucose-inhibited division protein A-related
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PFAM |
PF01134
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y2Z2
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PhosphoSite |
PhosphoSite-Q9Y2Z2
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
25821
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UniGene |
Hs.347614
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RefSeq |
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HUGO |
HGNC:19261
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OMIM |
614667
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CCDS |
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HPRD |
17611
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IMGT |
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EMBL |
AF132937
AF319422
AF442963
AF469110
AF469111
AK074625
AK225828
AL603910
AL833823
AY078985
AY078986
BC005808
BC011051
CH471051
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GenPept |
AAD27712
AAG42814
AAH05808
AAH11051
AAL35894
AAL82394
AAL82395
AAL85490
AAL85491
BAG51977
CAD38685
CAI14880
CAI14881
CAI14882
EAW48762
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