TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRMT10Cprovided by HGNC
Official Full Name: tRNA methyltransferase 10C, mitochondrial RNase P subunitprovided by HGNC
Primary source: HGNC:HGNC:26022
See related: Ensembl:ENSG00000174173 MIM:615423; AllianceGenome:HGNC:26022
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HNYA; MRPP1; COXPD30; RG9MTD1
Summary: 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]
Expression: Ubiquitous expression in adrenal (RPKM 10.2), lymph node (RPKM 9.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q12.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (101561868..101566446)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (104274164..104278741)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (101280712..101285290)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural basis of RNA processing by human mitochondrial RNase P.
Title: Structural basis of RNA processing by human mitochondrial RNase P.
Disease-associated mutations in mitochondrial precursor tRNAs affect binding, m1R9 methylation, and tRNA processing by mtRNase P.
Title: Disease-associated mutations in mitochondrial precursor tRNAs affect binding, m1R9 methylation, and tRNA processing by mtRNase P.
m(1)A Regulator TRMT10C Predicts Poorer Survival and Contributes to Malignant Behavior in Gynecological Cancers.
Title: m(1)A Regulator TRMT10C Predicts Poorer Survival and Contributes to Malignant Behavior in Gynecological Cancers.
This study proposes low-resolution models of the MRPP1-MRPP2 and MRPP1-MRPP2-MRPP3 complexes that suggest the overall architecture, stoichiometry, and orientation of subunits and tRNA substrates.
Title: Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.
in addition to being an essential component of the RNase P reaction, MRPP1/2 serves as a processing platform for several down-stream tRNA maturation steps in human mitochondria.
Title: The MRPP1/MRPP2 complex is a tRNA-maturation platform in human mitochondria.
identifying mutations in TRMT10C as a cause of mitochondrial disease and highlighting the importance of RNA processing for correct mitochondrial function
Title: Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Inhibition of mitochondrial RNase P by beta-amyloid is an unspecific effect and is not mediated by beta-amyloid interaction with SDR5C1.
Title: The amyloid-β-SDR5C1(ABAD) interaction does not mediate a specific inhibition of mitochondrial RNase P.
MRPP1 is essential for transcript processing, RNA modification, translation and mitochondrial respiration.
Title: RNA processing in human mitochondria.
We also identify the 5' and 3' transcript ends of the three lncRNAs and show that mitochondrial RNase P protein 1 (MRPP1) is important for the processing of these transcripts.
Title: Long noncoding RNAs are generated from the mitochondrial genome and regulated by nuclear-encoded proteins.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined oxidative phosphorylation defect type 30 MedGen: C5567605 OMIM: 616974 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57475 (e-PCR)
- UniSTS:68165

RH103386 (e-PCR)
- UniSTS:97712

SHGC-36007 (e-PCR)
- UniSTS:46269

STS-H77546 (e-PCR)
- UniSTS:20672

RH78769 (e-PCR)
- UniSTS:6378

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA (adenine(9)-N1)-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables tRNA (guanosine(9)-N1)-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables tRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables tRNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA modification	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial RNA 5'-end processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial tRNA 3'-end processing	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial tRNA 5'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial tRNA 5'-end processing	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial tRNA methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial tRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of mitochondrial translation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial ribonuclease P complex	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial ribonuclease P complex	TAS Traceable Author Statement more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of tRNA methyltransferase complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: tRNA methyltransferase 10 homolog C

Names: HBV pre-S2 trans-regulated protein 2; RNA (guanine-9-) methyltransferase domain containing 1; mRNA methyladenosine-N(1)-methyltransferase; mitochondrial RNase P subunit 1; mitochondrial ribonuclease P protein 1; renal carcinoma antigen NY-REN-49; tRNA (adenine(9)-N(1))-methyltransferase; tRNA (guanine(9)-N(1))-methyltransferase

NP_060289.2

EC 2.1.1.218

EC 2.1.1.221

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.