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METTL1 methyltransferase 1, tRNA methylguanosine [ Homo sapiens (human) ]

Gene ID: 4234, updated on 16-Apr-2024

Summary

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Official Symbol
METTL1provided by HGNC
Official Full Name
methyltransferase 1, tRNA methylguanosineprovided by HGNC
Primary source
HGNC:HGNC:7030
See related
Ensembl:ENSG00000037897 MIM:604466; AllianceGenome:HGNC:7030
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
TRM8; TRMT8; C12orf1; YDL201w
Summary
This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 7.6), thyroid (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57768471..57772105, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57736820..57740454, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58162254..58165888, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6555 Neighboring gene membrane associated ring-CH-type finger 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:58158104-58158882 Neighboring gene cytochrome P450 family 27 subfamily B member 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:58164747-58165946 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58166052-58166561 Neighboring gene EEF1A lysine methyltransferase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58176331-58177200 Neighboring gene Ts translation elongation factor, mitochondrial Neighboring gene advillin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. METTL1-Mediated m7G tRNA Modification Promotes Lenvatinib Resistance in Hepatocellular Carcinoma. Huang M, et al. Cancer Res, 2023 Jan 4. PMID 36102722
  2. METTL1 promotes hepatocarcinogenesis via m(7) G tRNA modification-dependent translation control. Chen Z, et al. Clin Transl Med, 2021 Dec. PMID 34898034, Free PMC Article
  3. METTL1-mediated m(7)G modification of Arg-TCT tRNA drives oncogenic transformation. Orellana EA, et al. Mol Cell, 2021 Aug 19. PMID 34352207, Free PMC Article
  4. METTL1-mediated m(7)G methylation maintains pluripotency in human stem cells and limits mesoderm differentiation and vascular development. Deng Y, et al. Stem Cell Res Ther, 2020 Jul 22. PMID 32698871, Free PMC Article
  5. METTL1 limits differentiation and functioning of EPCs derived from human-induced pluripotent stem cells through a MAPK/ERK pathway. Deng Y, et al. Biochem Biophys Res Commun, 2020 Jun 30. PMID 32430183

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. WDR4 promotes HCC pathogenesis through N[7]-methylguanosine by regulating and interacting with METTL1.
    Title: WDR4 promotes HCC pathogenesis through N(7)-methylguanosine by regulating and interacting with METTL1.
  2. N6-methyladenosine-induced METTL1 promotes tumor proliferation via CDK4.
    Title: N6-methyladenosine-induced METTL1 promotes tumor proliferation via CDK4.
  3. P300/SP1 complex mediating elevated METTL1 regulates CDK14 mRNA stability via internal m7G modification in CRPC.
    Title: P300/SP1 complex mediating elevated METTL1 regulates CDK14 mRNA stability via internal m7G modification in CRPC.
  4. METTL1 gene polymorphisms and Wilms tumor susceptibility in Chinese children: A five-center case-control study.
    Title: METTL1 gene polymorphisms and Wilms tumor susceptibility in Chinese children: A five-center case-control study.
  5. METTL1/WDR4-mediated tRNA m[7]G modification and mRNA translation control promote oncogenesis and doxorubicin resistance.
    Title: METTL1/WDR4-mediated tRNA m(7)G modification and mRNA translation control promote oncogenesis and doxorubicin resistance.
  6. Association of RNA m[7]G Modification Gene Polymorphisms with Pediatric Glioma Risk.
    Title: Association of RNA m(7)G Modification Gene Polymorphisms with Pediatric Glioma Risk.
  7. Structural basis of regulated m[7]G tRNA modification by METTL1-WDR4.
    Title: Structural basis of regulated m(7)G tRNA modification by METTL1-WDR4.
  8. Structures and mechanisms of tRNA methylation by METTL1-WDR4.
    Title: Structures and mechanisms of tRNA methylation by METTL1-WDR4.
  9. METTL1-Mediated m7G tRNA Modification Promotes Lenvatinib Resistance in Hepatocellular Carcinoma.
    Title: METTL1-Mediated m7G tRNA Modification Promotes Lenvatinib Resistance in Hepatocellular Carcinoma.
  10. METTL1/WDR4-mediated m(7)G tRNA modifications and m(7)G codon usage promote mRNA translation and lung cancer progression.
    Title: METTL1/WDR4-mediated m(7)G tRNA modifications and m(7)G codon usage promote mRNA translation and lung cancer progression.
Submit: New GeneRIF Correction See all GeneRIFs (21)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat downregulates the expression of many proteins, including D1075-like gene product, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ95748

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables internal mRNA (guanine-N7-)-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables tRNA (guanine(46)-N7)-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables tRNA (guanine(46)-N7)-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables tRNA binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in RNA (guanine-N7)-methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in RNA (guanine-N7)-methylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tRNA (guanine-N7)-methylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tRNA modification IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tRNA stabilization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of tRNA (m7G46) methyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of tRNA methyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
tRNA (guanine-N(7)-)-methyltransferase
Names
D1075-like gene product
mRNA (guanine-N(7)-)-methyltransferase
methyltransferase like 1
methyltransferase-like protein 1
miRNA (guanine-N(7)-)-methyltransferase
tRNA (guanine(46)-N(7))-methyltransferase
tRNA(m7G46)-methyltransferase
NP_005362.3
NP_075422.3
XP_005268930.1
XP_016874794.2
XP_047284810.1
XP_054228036.1
XP_054228037.1
XP_054228038.1

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

  1. NG_047060.1 RefSeqGene

    Range
    5027..8661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005371.6 → NP_005362.3  tRNA (guanine-N(7)-)-methyltransferase isoform a

    See identical proteins and their annotated locations for NP_005362.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and it encodes the longer isoform (a).
    Source sequence(s)
    AC025165, AI168455, Y18643
    Consensus CDS
    CCDS8955.3
    UniProtKB/Swiss-Prot
    B2RBX1, H7BXF2, Q14105, Q53FS9, Q9UBP6
    Related
    ENSP00000314441.7, ENST00000324871.12
    Conserved Domains (1) summary
    pfam02390
    Location:77 → 254
    Methyltransf_4; Putative methyltransferase

  2. NM_023033.4 → NP_075422.3  tRNA (guanine-N(7)-)-methyltransferase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate segment, compared to variant 1, that causes a frameshift. The resulting protein (isoform c) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA317248, AC025165, AI168455, AK223202
    Consensus CDS
    CCDS8956.1
    UniProtKB/Swiss-Prot
    Q9UBP6
    Related
    ENSP00000257848.7, ENST00000257848.7
    Conserved Domains (1) summary
    COG0220
    Location:16 → 93
    TrmB; tRNA G46 methylase TrmB [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57768471..57772105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428854.1 → XP_047284810.1  tRNA (guanine-N(7)-)-methyltransferase isoform X3

  2. XM_005268873.3 → XP_005268930.1  tRNA (guanine-N(7)-)-methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005268930.1

    Conserved Domains (1) summary
    pfam02390
    Location:34 → 211
    Methyltransf_4; Putative methyltransferase

  3. XM_017019305.3 → XP_016874794.2  tRNA (guanine-N(7)-)-methyltransferase isoform X2

    Conserved Domains (1) summary
    cl17173
    Location:77 → 191
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57736820..57740454 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372063.1 → XP_054228038.1  tRNA (guanine-N(7)-)-methyltransferase isoform X3

  2. XM_054372061.1 → XP_054228036.1  tRNA (guanine-N(7)-)-methyltransferase isoform X1

  3. XM_054372062.1 → XP_054228037.1  tRNA (guanine-N(7)-)-methyltransferase isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_023032.1: Suppressed sequence

    Description
    NM_023032.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBP6.1 GenPept UniProtKB/Swiss-Prot:Q9UBP6

Gene LinkOut

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