TRMT5 tRNA methyltransferase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRMT5provided by HGNC
Official Full Name: tRNA methyltransferase 5provided by HGNC
Primary source: HGNC:HGNC:23141
See related: Ensembl:ENSG00000126814 MIM:611023; AllianceGenome:HGNC:23141
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: TRM5; PNSED; COXPD26; KIAA1393
Summary: tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in testis (RPKM 5.1), ovary (RPKM 4.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q23.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (60971441..60981690, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (55177981..55188230, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (61438159..61448408, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Title: A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies.
Title: TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
Conservation of structure and mechanism by Trm5 enzymes
Title: Conservation of structure and mechanism by Trm5 enzymes.
comparison of human TRM5 and E Coli TrmD activities, requirements for optimal activity, and tRNA methylation sites
Title: Isolation and characterization of the human tRNA-(N1G37) methyltransferase (TRM5) and comparison to the Escherichia coli TrmD protein.

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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 26 MedGen: C5567741 OMIM: 616539 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of TRM5 tRNA methyltransferase 5 homolog (TRMT5) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD09439 (e-PCR)
- UniSTS:290482

RH79203 (e-PCR)
- UniSTS:7881

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables tRNA (guanine(37)-N1)-methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables tRNA methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in mitochondrial tRNA methylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial tRNA methylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA N1-guanine methylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tRNA (guanine(37)-N1)-methyltransferase

Names: M1G-methyltransferase; TRM5 tRNA methyltransferase 5 homolog; tRNA (guanine-N(1)-)-methyltransferase; tRNA [GM37] methyltransferase; tRNA-N1G37 methyltransferase

NP_001337182.1

EC 2.1.1.228

NP_001337183.1

EC 2.1.1.228

NP_065861.3

EC 2.1.1.228

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.

Genomic

NG_053119.1 RefSeqGene

Range

5612..15250

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350253.1 → NP_001337182.1 tRNA (guanine(37)-N1)-methyltransferase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL160236, KF455905

Conserved Domains (1) summary

cl27846
Location:125 → 497

Met_10; Met-10+ like-protein
NM_001350254.1 → NP_001337183.1 tRNA (guanine(37)-N1)-methyltransferase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a different 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter, compared to isoform 1.

Source sequence(s)

AL160236, KF455905

Conserved Domains (1) summary

cl27846
Location:124 → 496

Met_10; Met-10+ like-protein
NM_020810.3 → NP_065861.3 tRNA (guanine(37)-N1)-methyltransferase isoform 3

See identical proteins and their annotated locations for NP_065861.3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' terminal exon, resulting in a different 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus, and is shorter, compared to isoform 1.

Source sequence(s)

AK293158, AL160236, DC370229

Consensus CDS

CCDS32092.1

UniProtKB/Swiss-Prot

B2RN19, Q32P41, Q9P2F4

Related

ENSP00000261249.6, ENST00000261249.7

Conserved Domains (1) summary

cl27846
Location:97 → 469

Met_10; Met-10+ like-protein