MT-TP (mitochondrially encoded tRNA-Pro (CCN)) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: MT-TP (mitochondrially encoded tRNA-Pro (CCN)) Homo sapiens
Analyze
Symbol: MT-TP
Name: mitochondrially encoded tRNA-Pro (CCN)
RGD ID: 1347007
HGNC Page HGNC:7494
Description: ASSOCIATED WITH Abnormality of movement; Ataxia; Cognitive impairment; INTERACTS WITH DDT; lipopolysaccharide; methylparaben
Type: trna (Ensembl: Mt_tRNA)
Previously known as: mitochondrially encoded tRNA proline; MTTP
RGD Orthologs
Mouse
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT15,956 - 16,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT15,956 - 16,023 (-)EnsemblGRCh38hg38GRCh38
GRCh37MT15,956 - 16,023 (-)NCBIGRCh37GRCh37hg19GRCh37


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:19077432   PMID:19758471   PMID:20301403   PMID:20301693  


Genomics

Comparative Map Data
MT-TP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT15,956 - 16,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT15,956 - 16,023 (-)EnsemblGRCh38hg38GRCh38
GRCh37MT15,956 - 16,023 (-)NCBIGRCh37GRCh37hg19GRCh37
mt-Tp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT15,356 - 15,422 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblMT15,356 - 15,422 (-)EnsemblGRCm39 Ensembl
GRCm38MT15,356 - 15,422 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT15,356 - 15,422 (-)EnsemblGRCm38mm10GRCm38
MGSCv37MT15,356 - 15,422 (-)NCBIGRCm37MGSCv37mm9NCBIm37


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
m.15990C>T single nucleotide variant Mitochondrial disease [RCV003162230]|Myopathy [RCV000010183] ChrMT:15990 [GRCh38]
ChrMT:15990 [GRCh37]		 pathogenic|likely pathogenic
m.15967G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851158]|MERFF syndrome [RCV000010185] ChrMT:15967 [GRCh38]
ChrMT:15967 [GRCh37]		 pathogenic
m.15965A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851157]|Parkinson disease, mitochondrial [RCV000010184] ChrMT:15965 [GRCh38]
ChrMT:15965 [GRCh37]		 risk factor|benign
NC_012920.1(MT-CYB):m.15970T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851160] ChrMT:15970 [GRCh38]
ChrMT:15970 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.15976T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851161] ChrMT:15976 [GRCh38]
ChrMT:15976 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.15978C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851163] ChrMT:15978 [GRCh38]
ChrMT:15978 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.15994A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851167] ChrMT:15994 [GRCh38]
ChrMT:15994 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.16003T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851170] ChrMT:16003 [GRCh38]
ChrMT:16003 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.16011A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851171] ChrMT:16011 [GRCh38]
ChrMT:16011 [GRCh37]		 likely benign
NC_012920.1(MT-TP):m.15958A>T single nucleotide variant Mitochondrial disease [RCV001090167] ChrMT:15958 [GRCh38]
ChrMT:15958 [GRCh37]		 pathogenic
NC_012920.1(MT-CYB):m.15968T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851159] ChrMT:15968 [GRCh38]
ChrMT:15968 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.15992A>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851166] ChrMT:15992 [GRCh38]
ChrMT:15992 [GRCh37]		 likely benign
NC_012920.1(MT-CYB):m.15995G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851168] ChrMT:15995 [GRCh38]
ChrMT:15995 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.16002T>C single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851169]|MERRF syndrome [RCV002249545] ChrMT:16002 [GRCh38]
ChrMT:16002 [GRCh37]		 pathogenic|likely pathogenic
NC_012920.1(MT-CYB):m.16021C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851175] ChrMT:16021 [GRCh38]
ChrMT:16021 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.15977C>T single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851162]|not provided [RCV003128419] ChrMT:15977 [GRCh38]
ChrMT:15977 [GRCh37]		 benign|not provided
NC_012920.1(MT-CYB):m.15983T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851164] ChrMT:15983 [GRCh38]
ChrMT:15983 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.16018_16032dup AND Juvenile myopathy, encephalopathy, lactic acidosis duplication Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851174] ChrMT:16015..16016 [GRCh38]
ChrMT:16015..16016 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.15984T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851165] ChrMT:15984 [GRCh38]
ChrMT:15984 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.16013A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851172] ChrMT:16013 [GRCh38]
ChrMT:16013 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.16017T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851173] ChrMT:16017 [GRCh38]
ChrMT:16017 [GRCh37]		 benign
NC_012920.1(MT-TP):m.16023G>A single nucleotide variant not specified [RCV002248013] ChrMT:16023 [GRCh38]
ChrMT:16023 [GRCh37]		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:89
Count of miRNA genes:87
Interacting mature miRNAs:89
Transcripts:ENST00000387461
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D1S2076E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT15,698 - 15,777UniSTSGRCh37


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 153 5 190 141 618 141 243 20 57 255 238 248 8 2
Medium 141 124 119 76 150 78 168 169 774 58 118 142 3 25 74 2
Low 1889 2082 1001 293 557 177 3463 1883 2622 91 753 903 116 931 2415
Below cutoff 47 126 81 43 114 29 67 40 34 7 26 19 14 37 37

Sequence

Nucleotide Sequences

Reference Sequences
RefSeq Acc Id: ENST00000387461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblMT15,956 - 16,023 (-)Ensembl

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7494 AgrOrtholog
COSMIC MT-TP COSMIC
Ensembl Genes ENSG00000210196 Ensembl
GTEx ENSG00000210196 GTEx
HGNC ID HGNC:7494 ENTREZGENE
Human Proteome Map MT-TP Human Proteome Map
NCBI Gene MT-TP ENTREZGENE
OMIM 590075 OMIM
PharmGKB PA31297 PharmGKB


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-02-26 MT-TP  mitochondrially encoded tRNA-Pro (CCN)  MT-TP  mitochondrially encoded tRNA proline  Symbol and/or name change 19259463 PROVISIONAL
2015-05-19 MT-TP  mitochondrially encoded tRNA proline  TRNP  mitochondrially encoded tRNA proline  Symbol and/or name change 5135510 APPROVED
2015-05-19 MT-TP  mitochondrially encoded tRNA proline  TRNP    Symbol and/or name change 5135510 APPROVED
2014-01-07 TRNP  mitochondrially encoded tRNA proline  MT-TP    Symbol and/or name change 5135510 APPROVED
2014-01-07 TRNP  mitochondrially encoded tRNA proline  MT-TP  mitochondrially encoded tRNA proline  Symbol and/or name change 5135510 APPROVED