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Aliases for TRMT10C Gene

Aliases for TRMT10C Gene

  • TRNA Methyltransferase 10C, Mitochondrial RNase P Subunit 2 3 5
  • RNA (Guanine-9-) Methyltransferase Domain Containing 1 2 3
  • MRNA Methyladenosine-N(1)-Methyltransferase 3 4
  • TRNA (Adenine(9)-N(1))-Methyltransferase 3 4
  • TRNA (Guanine(9)-N(1))-Methyltransferase 3 4
  • Mitochondrial Ribonuclease P Protein 1 3 4
  • HBV Pre-S2 Trans-Regulated Protein 2 3 4
  • Renal Carcinoma Antigen NY-REN-49 3 4
  • Mitochondrial RNase P Subunit 1 2 3
  • RG9MTD1 3 4
  • MRPP1 3 4
  • RNA (Guanine-9-)-Methyltransferase Domain-Containing Protein 1 4
  • TRNA Methyltransferase 10 Homolog C (S. Cerevisiae) 2
  • TRNA Methyltransferase 10 Homolog C 3
  • Mitochondrial RNase P Protein 1 4
  • EC 2.1.1.218 4
  • EC 2.1.1.221 4
  • EC 2.1.1.36 56
  • EC 2.1.1.- 4
  • EC 2.1.1 56
  • COXPD30 3
  • HNYA 3

External Ids for TRMT10C Gene

Previous HGNC Symbols for TRMT10C Gene

  • RG9MTD1

Previous GeneCards Identifiers for TRMT10C Gene

  • GC03P101281

Summaries for TRMT10C Gene

Entrez Gene Summary for TRMT10C Gene

  • 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]

GeneCards Summary for TRMT10C Gene

TRMT10C (TRNA Methyltransferase 10C, Mitochondrial RNase P Subunit) is a Protein Coding gene. Diseases associated with TRMT10C include Combined Oxidative Phosphorylation Deficiency 30. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include methyltransferase activity. An important paralog of this gene is TRMT10B.

UniProtKB/Swiss-Prot for TRMT10C Gene

  • Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation (PubMed:18984158, PubMed:21593607, PubMed:23042678, PubMed:27132592). Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and MRPP3, which cleaves tRNA molecules in their 5-ends (PubMed:18984158). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalytic N(1)-methyltransferase subunit (PubMed:23042678). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). In addition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1 also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA (PubMed:29072297).

Additional gene information for TRMT10C Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRMT10C Gene

Genomics for TRMT10C Gene

GeneHancer (GH) Regulatory Elements for TRMT10C Gene

Promoters and enhancers for TRMT10C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I101560 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 226 2.3 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 TRMT10C SENP7 NXPE3 RPL24 ZBTB11-AS1 IMPG2 PDCL3P4 PCNP
GH03I101529 Enhancer 1.2 ENCODE dbSUPER 12.4 -30.4 -30383 4.3 SMAD1 ATF1 ARNT NCOA2 ZNF280A TCF12 ZNF766 GATA2 ATF7 CAVIN1 SENP7 TRMT10C IMPG2 PDCL3P4 FAM172BP
GH03I101519 Enhancer 1.1 Ensembl ENCODE dbSUPER 12 -40.7 -40736 2.5 SOX13 SAP130 JUN ZNF384 CEBPG RARA ATF7 NR2F6 FOS HOMEZ TRMT10C SENP7 FAM172BP
GH03I101517 Enhancer 1 ENCODE dbSUPER 12 -43.1 -43115 1.4 PKNOX1 FOXA2 BATF IRF4 CBX5 ATF7 ETV6 FOS BCLAF1 IKZF2 FAM172BP SENP7 TRMT10C ZBTB11-AS1
GH03I101629 Enhancer 0.6 dbSUPER 11.2 +67.6 67562 0.5 CTBP1 POLR2A NCOR1 IKZF1 ZNF530 ZNF24 EP300 ZNF592 ENSG00000212319 GC03M101629 ZBTB11 ZBTB11-AS1 RPL24 TRMT10C PIR53925
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TRMT10C on UCSC Golden Path with GeneCards custom track

Genomic Locations for TRMT10C Gene

Genomic Locations for TRMT10C Gene
chr3:101,561,836-101,566,446
(GRCh38/hg38)
Size:
4,611 bases
Orientation:
Plus strand
chr3:101,280,706-101,285,290
(GRCh37/hg19)

Genomic View for TRMT10C Gene

Genes around TRMT10C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRMT10C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRMT10C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRMT10C Gene

Proteins for TRMT10C Gene

  • Protein details for TRMT10C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L0Y3-TM10C_HUMAN
    Recommended name:
    tRNA methyltransferase 10 homolog C
    Protein Accession:
    Q7L0Y3
    Secondary Accessions:
    • Q9NRG5
    • Q9NX54
    • Q9Y596

    Protein attributes for TRMT10C Gene

    Size:
    403 amino acids
    Molecular mass:
    47347 Da
    Quaternary structure:
    • Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and MRPP31.(PubMed:18984158). Interacts with HSD17B10/MRPP2; forming the MRPP1-MRPP2 subcomplex of the mitochondrial ribonuclease P complex (PubMed:23042678, PubMed:29040705). Interacts with GRSF1 (PubMed:23473034).
    SequenceCaution:
    • Sequence=AAD42877.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH35967.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91166.1; Type=Frameshift; Positions=128; Evidence={ECO:0000305};

neXtProt entry for TRMT10C Gene

Selected DME Specific Peptides for TRMT10C Gene

Q7L0Y3:
  • KNLTLDQMIRILLCLK
  • FGQPLVFDM
  • YLTADSPN
  • NTVSQLLE
  • ESEGWNRR
  • VSQLLESEG
  • DPFHIYFC

Post-translational modifications for TRMT10C Gene

No Post-translational modifications

Other Protein References for TRMT10C Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TRMT10C Gene

Gene Families for TRMT10C Gene

Protein Domains for TRMT10C Gene

Suggested Antigen Peptide Sequences for TRMT10C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7L0Y3

UniProtKB/Swiss-Prot:

TM10C_HUMAN :
  • Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family.
Family:
  • Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family.
genes like me logo Genes that share domains with TRMT10C: view

Function for TRMT10C Gene

Molecular function for TRMT10C Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + adenine(9) in tRNA = S-adenosyl-L-homocysteine + N(1)-methyladenine(9) in tRNA.
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + guanine(9) in tRNA = S-adenosyl-L-homocysteine + N(1)-methylguanine(9) in tRNA.
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + adenine in mRNA = S-adenosyl-L-homocysteine + N(1)-methyladenine in mRNA.
UniProtKB/Swiss-Prot Function:
Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation (PubMed:18984158, PubMed:21593607, PubMed:23042678, PubMed:27132592). Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and MRPP3, which cleaves tRNA molecules in their 5-ends (PubMed:18984158). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalytic N(1)-methyltransferase subunit (PubMed:23042678). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). In addition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1 also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA (PubMed:29072297).

Enzyme Numbers (IUBMB) for TRMT10C Gene

Phenotypes From GWAS Catalog for TRMT10C Gene

Gene Ontology (GO) - Molecular Function for TRMT10C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IDA 29040705
GO:0003723 RNA binding IDA,HDA 22658674
GO:0005515 protein binding IPI 18984158
GO:0008168 methyltransferase activity IEA --
GO:0009019 tRNA (guanine-N1-)-methyltransferase activity EXP,IDA 23042678
genes like me logo Genes that share ontologies with TRMT10C: view
genes like me logo Genes that share phenotypes with TRMT10C: view

Human Phenotype Ontology for TRMT10C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TRMT10C Gene

Localization for TRMT10C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRMT10C Gene

Mitochondrion matrix, mitochondrion nucleoid.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRMT10C gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRMT10C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IMP,IEA 27132592
GO:0005759 mitochondrial matrix TAS --
GO:0030678 mitochondrial ribonuclease P complex TAS 23042678
GO:0042645 mitochondrial nucleoid IEA --
genes like me logo Genes that share ontologies with TRMT10C: view

Pathways & Interactions for TRMT10C Gene

genes like me logo Genes that share pathways with TRMT10C: view

Gene Ontology (GO) - Biological Process for TRMT10C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000964 mitochondrial RNA 5-end processing IMP 21593607
GO:0008033 tRNA processing IEA --
GO:0032259 methylation IEA --
GO:0070131 positive regulation of mitochondrial translation IMP 27132592
GO:0070901 mitochondrial tRNA methylation TAS --
genes like me logo Genes that share ontologies with TRMT10C: view

No data available for SIGNOR curated interactions for TRMT10C Gene

Drugs & Compounds for TRMT10C Gene

No Compound Related Data Available

Transcripts for TRMT10C Gene

mRNA/cDNA for TRMT10C Gene

Unigene Clusters for TRMT10C Gene

TRNA methyltransferase 10 homolog C (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRMT10C Gene

No ASD Table

Relevant External Links for TRMT10C Gene

GeneLoc Exon Structure for
TRMT10C
ECgene alternative splicing isoforms for
TRMT10C

Expression for TRMT10C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRMT10C Gene

Protein differential expression in normal tissues from HIPED for TRMT10C Gene

This gene is overexpressed in Lung (38.5) and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRMT10C Gene



Protein tissue co-expression partners for TRMT10C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TRMT10C Gene:

TRMT10C

SOURCE GeneReport for Unigene cluster for TRMT10C Gene:

Hs.740864

Evidence on tissue expression from TISSUES for TRMT10C Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with TRMT10C: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRMT10C Gene

Orthologs for TRMT10C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TRMT10C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RG9MTD1 33 34
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia TRMT10C 33 34
  • 88.25 (n)
dog
(Canis familiaris)
Mammalia TRMT10C 33 34
  • 85.08 (n)
mouse
(Mus musculus)
Mammalia Trmt10c 33 16 34
  • 82.66 (n)
rat
(Rattus norvegicus)
Mammalia Trmt10c 33
  • 81.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRMT10C 34
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRMT10C 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRMT10C 33 34
  • 62.33 (n)
lizard
(Anolis carolinensis)
Reptilia TRMT10C 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trmt10c 33
  • 59.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14407 33
zebrafish
(Danio rerio)
Actinopterygii trmt10c 33 34
  • 52.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007211 33
  • 46.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5190 33 34
  • 45.99 (n)
worm
(Caenorhabditis elegans)
Secernentea F46F11.10 33
  • 43.14 (n)
F25H8.1 34
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRM10 34
  • 19 (a)
OneToMany
Species where no ortholog for TRMT10C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRMT10C Gene

ENSEMBL:
Gene Tree for TRMT10C (if available)
TreeFam:
Gene Tree for TRMT10C (if available)

Paralogs for TRMT10C Gene

Paralogs for TRMT10C Gene

genes like me logo Genes that share paralogs with TRMT10C: view

Variants for TRMT10C Gene

Sequence variations from dbSNP and Humsavar for TRMT10C Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs199730889 pathogenic, Combined oxidative phosphorylation deficiency 30, Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974] 101,565,323(+) G/A/T coding_sequence_variant, missense_variant
rs875989831 pathogenic, Combined oxidative phosphorylation deficiency 30, Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974] 101,565,595(+) A/G coding_sequence_variant, missense_variant
rs16844031 benign, not provided 101,565,273(+) G/C coding_sequence_variant, missense_variant
rs1001175090 -- 101,561,165(+) G/A upstream_transcript_variant
rs1001416497 -- 101,561,227(+) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TRMT10C Gene

Variant ID Type Subtype PubMed ID
nsv3925 CNV insertion 18451855
nsv508944 CNV insertion 20534489

Variation tolerance for TRMT10C Gene

Residual Variation Intolerance Score: 47.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.87; 74.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRMT10C Gene

Human Gene Mutation Database (HGMD)
TRMT10C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRMT10C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRMT10C Gene

Disorders for TRMT10C Gene

MalaCards: The human disease database

(1) MalaCards diseases for TRMT10C Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 30
  • coxpd30
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TM10C_HUMAN
  • Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974]: An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV. {ECO:0000269 PubMed:27132592}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRMT10C

genes like me logo Genes that share disorders with TRMT10C: view

No data available for Genatlas for TRMT10C Gene

Publications for TRMT10C Gene

  1. RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme. (PMID: 18984158) Holzmann J … Rossmanith W (Cell 2008) 2 3 4 58
  2. The m1A landscape on cytosolic and mitochondrial mRNA at single-base resolution. (PMID: 29072297) Safra M … Schwartz S (Nature 2017) 3 4 58
  3. The MRPP1/MRPP2 complex is a tRNA-maturation platform in human mitochondria. (PMID: 29040705) Reinhard L … Hällberg BM (Nucleic acids research 2017) 3 4 58
  4. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. (PMID: 27132592) Metodiev MD … Taylor RW (American journal of human genetics 2016) 3 4 58
  5. GRSF1 regulates RNA processing in mitochondrial RNA granules. (PMID: 23473034) Jourdain AA … Martinou JC (Cell metabolism 2013) 3 4 58

Products for TRMT10C Gene

Sources for TRMT10C Gene

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