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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
  • HBV Pre-S2 Trans-Regulated Protein 2 3 4
  • TRNA Methyltransferase 10 Homolog C 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
  • Mitochondrial Ribonuclease P Protein 1 3
  • Mitochondrial RNase P Protein 1 4
  • EC 2.1.1.36 61
  • EC 2.1.1.- 4
  • EC 2.1.1 61
  • 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 Defect Type 30. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and methyltransferase activity. An important paralog of this gene is TRMT10B.

UniProtKB/Swiss-Prot for TRMT10C Gene

  • 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.

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

Regulatory Elements for TRMT10C Gene

Enhancers for TRMT10C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G101529 1.3 ENCODE dbSUPER 12.4 -30.4 -30384 4.3 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 FOS KLF13 CAVIN1 NCOA1 SENP7 TRMT10C IMPG2 PDCL3P4 FAM172BP
GH03G101519 1.3 Ensembl ENCODE dbSUPER 12 -40.7 -40737 2.5 SOX13 SAP130 JUN CEBPG ZNF384 RARA GATA2 FOS NR2F6 HOMEZ TRMT10C SENP7 FAM172BP
GH03G101517 1.1 ENCODE dbSUPER 12 -43.1 -43115 1.4 PKNOX1 FOXA2 CBX3 TBL1XR1 YY1 EGR1 CBX5 FOS RELB ETV6 SENP7 TRMT10C ZBTB11-AS1 FAM172BP
GH03G101629 0.6 dbSUPER 11.2 +67.6 67562 0.5 ARID1B ESRRA POLR2A NCOR1 IKZF1 ZNF530 ZNF24 ZNF592 ZBTB11 ZBTB11-AS1 RPL24 TRMT10C ENSG00000212319 GC03M101629 PIR53925
GH03G101630 0.4 dbSUPER 10.8 +69.1 69094 0.8 POLR2H NXPE3 ZBTB11-AS1 TRMT10C RPL24 ENSG00000212319 GC03M101629 PIR53925
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRMT10C on UCSC Golden Path with GeneCards custom track

Promoters for TRMT10C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000155772 264 1801 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 ZNF143

Genomic Location for TRMT10C Gene

Chromosome:
3
Start:
101,561,836 bp from pter
End:
101,566,446 bp from pter
Size:
4,611 bases
Orientation:
Plus strand

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-MRRP1_HUMAN
    Recommended name:
    Mitochondrial ribonuclease P protein 1
    Protein Accession:
    Q7L0Y3
    Secondary Accessions:
    • Q9NRG5
    • Q9NX54
    • Q9Y596

    Protein attributes for TRMT10C Gene

    Size:
    403 amino acids
    Molecular mass:
    47347 Da
    Quaternary structure:
    • Interacts with MRPP2/HSD17B10 and MRPP3/KIAA0391. Interacts with GRSF1.
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:

MRRP1_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 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.

Enzyme Numbers (IUBMB) for TRMT10C Gene

Gene Ontology (GO) - Molecular Function for TRMT10C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005515 protein binding IPI 18984158
GO:0008168 methyltransferase activity IEA --
GO:0009019 tRNA (guanine-N1-)-methyltransferase activity IDA,EXP 23042678
GO:0016429 tRNA (adenine-N1-)-methyltransferase activity IDA,EXP 23042678
genes like me logo Genes that share ontologies with TRMT10C: view
genes like me logo Genes that share phenotypes with TRMT10C: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , 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

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 34 35
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia TRMT10C 34 35
  • 88.25 (n)
dog
(Canis familiaris)
Mammalia TRMT10C 34 35
  • 85.08 (n)
mouse
(Mus musculus)
Mammalia Trmt10c 34 16 35
  • 82.66 (n)
rat
(Rattus norvegicus)
Mammalia Trmt10c 34
  • 81.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRMT10C 35
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRMT10C 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRMT10C 34 35
  • 62.33 (n)
lizard
(Anolis carolinensis)
Reptilia TRMT10C 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trmt10c 34
  • 59.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14407 34
zebrafish
(Danio rerio)
Actinopterygii trmt10c 34 35
  • 52.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007211 34
  • 46.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5190 34 35
  • 45.99 (n)
worm
(Caenorhabditis elegans)
Secernentea F46F11.10 34
  • 43.14 (n)
F25H8.1 35
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRM10 35
  • 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 Sequence Context AA Info Type
rs199730889 Pathogenic, Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974] 101,565,323(+) TTTAC(G/T)ACTTT reference, missense
rs875989831 Pathogenic, Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974] 101,565,595(+) TTTTA(A/G)CATCA reference, missense
rs1001175090 -- 101,561,165(+) TACTG(A/G)TGATA upstream-variant-2KB
rs1001416497 -- 101,561,227(+) GCTGA(C/G)TAAGA upstream-variant-2KB
rs1001573260 -- 101,560,986(+) ATGGC(G/T)GCAGA upstream-variant-2KB

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)

Relevant External Links 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: ClinVar and Swiss-Prot

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

UniProtKB/Swiss-Prot

MRRP1_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.

Relevant External Links for TRMT10C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  2. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. (PMID: 27132592) Metodiev M.D. … Taylor R.W. (Am. J. Hum. Genet. 2016) 3 4 64
  3. GRSF1 regulates RNA processing in mitochondrial RNA granules. (PMID: 23473034) Jourdain A.A. … Martinou J.C. (Cell Metab. 2013) 3 4 64
  4. Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs. (PMID: 21593607) Brzezniak L.K. … Stepien P.P. (RNA Biol 2011) 3 4 64
  5. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 3 4 64

Products for TRMT10C Gene

Sources for TRMT10C Gene

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