Human Gene TRMT10C (uc003duz.4) Description and Page Index
  Description: Homo sapiens tRNA methyltransferase 10 homolog C (S. cerevisiae) (TRMT10C), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_017819): This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.819130.1, SRR1660807.129865.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000309922.7/ ENSP00000312356.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr3:101,280,680-101,285,290 Size: 4,611 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr3:101,283,626-101,284,837 Size: 1,212 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:101,280,680-101,285,290)mRNA (may differ from genome)Protein (403 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: MRRP1_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial ribonuclease P protein 1; Short=Mitochondrial RNase P protein 1; EC=2.1.1.-; AltName: Full=HBV pre-S2 trans-regulated protein 2; AltName: Full=RNA (guanine-9-)-methyltransferase domain-containing protein 1; AltName: Full=Renal carcinoma antigen NY-REN-49; AltName: Full=tRNA methyltransferase 10 homolog C; Flags: Precursor;
FUNCTION: Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/RG9MTD1, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends.
SUBUNIT: Interacts with MRPP2/HSD17B10 and MRPP3/KIAA0391.
INTERACTION: Q99714:HSD17B10; NbExp=4; IntAct=EBI-2107046, EBI-79964;
SUBCELLULAR LOCATION: Mitochondrion.
SIMILARITY: Belongs to the RNA methyltransferase TrmD family. TRM10 subfamily.
CAUTION: It is uncertain whether Met-1 or Met-7 is the initiator.
SEQUENCE CAUTION: Sequence=AAD42877.1; Type=Erroneous initiation; Sequence=AAH35967.2; Type=Erroneous initiation; Sequence=BAA91166.1; Type=Frameshift; Positions=128;

-  MalaCards Disease Associations
  MalaCards Gene Search: TRMT10C
Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 30* (1580)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.14 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 370.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.90180-0.399 Picture PostScript Text
3' UTR -109.40453-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025812 - Mt_RNase_P_1
IPR016009 - tRNA_m1G_MeTrfase
IPR007356 - tRNA_m1G_MeTrfase_euk

Pfam Domains:
PF01746 - tRNA (Guanine-1)-methyltransferase

ModBase Predicted Comparative 3D Structure on Q7L0Y3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000049 tRNA binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0009019 tRNA (guanine-N1-)-methyltransferase activity
GO:0016429 tRNA (adenine-N1-)-methyltransferase activity
GO:0016740 transferase activity
GO:0052905 tRNA (guanine(9)-N(1))-methyltransferase activity

Biological Process:
GO:0000964 mitochondrial RNA 5'-end processing
GO:0008033 tRNA processing
GO:0030488 tRNA methylation
GO:0032259 methylation
GO:0070131 positive regulation of mitochondrial translation
GO:0080009 mRNA methylation
GO:0090646 mitochondrial tRNA processing
GO:0097745 mitochondrial tRNA 5'-end processing
GO:1990180 mitochondrial tRNA 3'-end processing

Cellular Component:
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0030678 mitochondrial ribonuclease P complex
GO:0042645 mitochondrial nucleoid


-  Descriptions from all associated GenBank mRNAs
  BC035967 - Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1, mRNA (cDNA clone MGC:32567 IMAGE:4719195), complete cds.
AF226052 - Homo sapiens HNYA (HNYA) mRNA, complete cds.
AK000439 - Homo sapiens cDNA FLJ20432 fis, clone KAT03764.
JD232198 - Sequence 213222 from Patent EP1572962.
AF086243 - Homo sapiens full length insert cDNA clone ZD37F12.
AF155111 - Homo sapiens NY-REN-49 antigen mRNA, partial cds.
JD558991 - Sequence 540015 from Patent EP1572962.
JD461386 - Sequence 442410 from Patent EP1572962.
JD323970 - Sequence 304994 from Patent EP1572962.
JD465685 - Sequence 446709 from Patent EP1572962.
CU690234 - Synthetic construct Homo sapiens gateway clone IMAGE:100022272 5' read RG9MTD1 mRNA.
HQ447662 - Synthetic construct Homo sapiens clone IMAGE:100071008; CCSB013205_03 RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1) gene, encodes complete protein.
KJ902719 - Synthetic construct Homo sapiens clone ccsbBroadEn_12113 RG9MTD1 gene, encodes complete protein.
AY561707 - Homo sapiens HBV pre-S2 trans-regulated protein 2 mRNA, complete cds.
JD323656 - Sequence 304680 from Patent EP1572962.
JD287281 - Sequence 268305 from Patent EP1572962.
JD374712 - Sequence 355736 from Patent EP1572962.
JD163060 - Sequence 144084 from Patent EP1572962.
JD082646 - Sequence 63670 from Patent EP1572962.
JD112762 - Sequence 93786 from Patent EP1572962.
JD523876 - Sequence 504900 from Patent EP1572962.
JD500090 - Sequence 481114 from Patent EP1572962.
AK026532 - Homo sapiens cDNA: FLJ22879 fis, clone KAT03544.
JD260129 - Sequence 241153 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q7L0Y3 (Reactome details) participates in the following event(s):

R-HSA-6787594 TRMT10C:HSD17B10 (TRMT10C:SDR5C1) methylates adenosine-9 in tRNA yielding 1-methyladenosine-9
R-HSA-6787591 TRMT10C:HSD17B10 (TRMT10C:SDR5C1) of mitochondrial RNase P methylates guanosine-9 in tRNA yielding 1-methylguanosine-9
R-HSA-6785470 tRNA processing in the mitochondrion
R-HSA-8868766 rRNA processing in the mitochondrion
R-HSA-6787450 tRNA modification in the mitochondrion
R-HSA-72306 tRNA processing
R-HSA-72312 rRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: MRPP1, MRRP1_HUMAN, NM_017819, NP_060289, Q7L0Y3, Q9NRG5, Q9NX54, Q9Y596, RG9MTD1, uc003duz.3
UCSC ID: uc003duz.4
RefSeq Accession: NM_017819
Protein: Q7L0Y3 (aka MRRP1_HUMAN)
CCDS: CCDS43122.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017819.3
exon count: 2CDS single in 3' UTR: no RNA size: 1861
ORF size: 1212CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2606.00frame shift in genome: no % Coverage: 99.14
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.