TRMT10C (tRNA methyltransferase 10C, mitochondrial RNase P subunit)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54931
Gene name Gene Name - the full gene name approved by the HGNC.
TRNA methyltransferase 10C, mitochondrial RNase P subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRMT10C
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD30, HNYA, MRPP1, RG9MTD1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COXPD30
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q12.3
Summary Summary of gene provided in NCBI Entrez 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 trans
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs199730889 G>A,T Pathogenic Coding sequence variant, missense variant
rs875989831 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
miRTarBase ID miRNA Experiments Reference
MIRT031383 hsa-miR-16-5p Proteomics 18668040
MIRT648065 hsa-miR-6782-3p HITS-CLIP 23824327
MIRT648064 hsa-miR-4781-3p HITS-CLIP 23824327
MIRT648063 hsa-miR-371b-5p HITS-CLIP 23824327
MIRT648062 hsa-miR-373-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA 21873635
GO:0000049 Function TRNA binding IDA 29040705
GO:0000964 Process Mitochondrial RNA 5'-end processing IMP 21593607
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 18984158, 23042678, 28514442, 29040705, 29880640
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615423 26022 ENSG00000174173
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q7L0Y3
Protein name tRNA methyltransferase 10 homolog C (HBV pre-S2 trans-regulated protein 2) (Mitochondrial ribonuclease P protein 1) (Mitochondrial RNase P protein 1) (RNA (guanine-9-)-methyltransferase domain-containing protein 1) (Renal carcinoma antigen NY-REN-49) (mRN
Protein 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/MR
PDB 5NFJ , 7ONU , 8CBK , 8CBL , 8CBM , 8CBO , 8RR1 , 8RR3 , 8RR4 , 9EY0 , 9EY1 , 9EY2 , 9GCH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01746 tRNA_m1G_MT 212 → 380 tRNA (Guanine-1)-methyltransferase Family
Sequence 
MAAFLKMSVSVNFFRPFTRFLVPFTLHRKRNNLTILQRYMSSKIPAVTYPKNESTPPSEE
LELDKWKTTMKSSVQEECVSTISSSKDEDPLAATREFIEMWRLLGREVPEHITEEELKTL
MECVSNTAKKKYLKYLYTKEKVKKARQIKKEMKAAAREEAKNIKLLETTEEDKQKNFLFL
RLWDRNMDIAMGWKGAQAMQFGQPLVFDMAYENYMKRKELQNTVSQLLESEGWNRRNVDP
FHIYFCNLKIDGALHRELVKRYQEKWDKLLLTSTEKSHVDLFPKDSIIYLTADSPNVMTT
FRHDKVYVIGSFVDKSMQPGTSLAKAKRLNLATECLPLDKYLQWEIGNKNLTLDQMIRIL
LCLKNNGNWQEALQFVPKRKHTGFLEISQHSQEFINRLKKAKT
Sequence length 403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    tRNA processing in the mitochondrion
tRNA modification in the mitochondrion
rRNA processing in the mitochondrion
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Combined oxidative phosphorylation deficiency COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30, Combined oxidative phosphorylation defect type 30 rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517
View all (155 more)		 27132592
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease GenCC
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation defect type 30 GenCC
Dermatitis Dermatitis GWAS
Carcinoma Carcinoma GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Lactic Associate 27132592
Carcinoma Hepatocellular Associate 35833147, 37170222
Carcinoma Renal Cell Associate 37542141
Congenital Abnormalities Associate 27132592
Deafness Associate 27132592
Feeding and Eating Disorders Associate 27132592
Mitochondrial Diseases Associate 27132592
Muscle Hypotonia Associate 27132592
Respiratory Insufficiency Associate 27132592
RNA Virus Infections Associate 27132592