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

    Gene ID: 4234, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See METTL1 in Genome Data Viewer
    Location:
    12q14.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57768471..57772105, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57736820..57740454, complement)
    RS_2024_09 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 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 tRNA m(7)G methylation and translational dysfunction restricts breast cancer tumorigenesis by fueling cell cycle blockade. Du D, et al. J Exp Clin Cancer Res, 2024 May 31. PMID 38822363, Free PMC Article
    2. METTL1 overexpression is correlated with poor prognosis and promotes hepatocellular carcinoma via PTEN. Tian QH, et al. J Mol Med (Berl), 2019 Nov. PMID 31463732
    3. 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
    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 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

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The m7G Methyltransferase Mettl1 Drives Cardiac Hypertrophy by Regulating SRSF9-Mediated Splicing of NFATc4.
      Title: The m7G Methyltransferase Mettl1 Drives Cardiac Hypertrophy by Regulating SRSF9-Mediated Splicing of NFATc4.
    2. Metabolic reprogramming driven by METTL1-mediated tRNA m7G modification promotes acquired anlotinib resistance in oral squamous cell carcinoma.
      Title: Metabolic reprogramming driven by METTL1-mediated tRNA m7G modification promotes acquired anlotinib resistance in oral squamous cell carcinoma.
    3. METTL1/FOXM1 promotes lung adenocarcinoma progression and gefitinib resistance by inhibiting PTPN13 expression.
      Title: METTL1/FOXM1 promotes lung adenocarcinoma progression and gefitinib resistance by inhibiting PTPN13 expression.
    4. METTL1-mediated tRNA m[7]G methylation and translational dysfunction restricts breast cancer tumorigenesis by fueling cell cycle blockade.
      Title: METTL1-mediated tRNA m(7)G methylation and translational dysfunction restricts breast cancer tumorigenesis by fueling cell cycle blockade.
    5. METTL1 facilitates ameloblastoma invasive growth via MAPK signaling pathway.
      Title: METTL1 facilitates ameloblastoma invasive growth via MAPK signaling pathway.
    6. 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.
    7. N6-methyladenosine-induced METTL1 promotes tumor proliferation via CDK4.
      Title: N6-methyladenosine-induced METTL1 promotes tumor proliferation via CDK4.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    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 cellular response to stress 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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