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    METTL8 methyltransferase 8, tRNA N3-cytidine [ Homo sapiens (human) ]

    Gene ID: 79828, updated on 27-Nov-2024

    Summary

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    Official Symbol
    METTL8provided by HGNC
    Official Full Name
    methyltransferase 8, tRNA N3-cytidineprovided by HGNC
    Primary source
    HGNC:HGNC:25856
    See related
    Ensembl:ENSG00000123600 MIM:609525; AllianceGenome:HGNC:25856
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIP
    Summary
    Enables mRNA methyltransferase activity and tRNA (cytidine-3-)-methyltransferase activity. Involved in RNA metabolic process and positive regulation of mitochondrial translation. Is active in mitochondrial matrix. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 2.5), esophagus (RPKM 2.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See METTL8 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (171315746..171434772, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (171792877..171911912, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172172256..172291282, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983995 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:172100813-172102012 Neighboring gene uncharacterized LOC105373737 Neighboring gene small integral membrane protein 26-like Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:172172370-172173192 Neighboring gene Sharpr-MPRA regulatory region 707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16746 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172174870-172175072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16747 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172175660-172176482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16748 Neighboring gene Sharpr-MPRA regulatory region 8774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16750 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:172183340-172183864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172242874-172243458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172243459-172244043 Neighboring gene ribosomal protein S26 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16756 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr2:172289881-172290441 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172291003-172291562 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172303768-172303972 Neighboring gene DDB1 and CUL4 associated factor 17 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5458 Neighboring gene death associated protein 3 pseudogene 2 Neighboring gene ribosomal protein S15 pseudogene 4

    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. Molecular basis for human mitochondrial tRNA m3C modification by alternatively spliced METTL8. Huang MH, et al. Nucleic Acids Res, 2022 Apr 22. PMID 35357504, Free PMC Article
    2. Methyltransferase METTL8 is required for 3-methylcytosine modification in human mitochondrial tRNAs. Lentini JM, et al. J Biol Chem, 2022 Apr. PMID 35247384, Free PMC Article
    3. The RNA methyltransferase METTL8 installs m(3)C(32) in mitochondrial tRNAs(Thr/Ser(UCN)) to optimise tRNA structure and mitochondrial translation. Kleiber N, et al. Nat Commun, 2022 Jan 11. PMID 35017528, Free PMC Article
    4. METTL8 links mt-tRNA m(3)C modification to the HIF1α/RTK/Akt axis to sustain GBM stemness and tumorigenicity. Lee BWL, et al. Cell Death Dis, 2024 May 14. PMID 38744809, Free PMC Article
    5. Balancing of mitochondrial translation through METTL8-mediated m(3)C modification of mitochondrial tRNAs. Schöller E, et al. Mol Cell, 2021 Dec 2. PMID 34774131, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. METTL8 links mt-tRNA m[3]C modification to the HIF1alpha/RTK/Akt axis to sustain GBM stemness and tumorigenicity.
      Title: METTL8 links mt-tRNA m(3)C modification to the HIF1α/RTK/Akt axis to sustain GBM stemness and tumorigenicity.
    2. Molecular basis for human mitochondrial tRNA m3C modification by alternatively spliced METTL8.
      Title: Molecular basis for human mitochondrial tRNA m3C modification by alternatively spliced METTL8.
    3. Methyltransferase METTL8 is required for 3-methylcytosine modification in human mitochondrial tRNAs.
      Title: Methyltransferase METTL8 is required for 3-methylcytosine modification in human mitochondrial tRNAs.
    4. The RNA methyltransferase METTL8 installs m(3)C32 in mitochondrial tRNAs(Thr/Ser(UCN)) to optimise tRNA structure and mitochondrial translation.
      Title: The RNA methyltransferase METTL8 installs m(3)C(32) in mitochondrial tRNAs(Thr/Ser(UCN)) to optimise tRNA structure and mitochondrial translation.
    5. Data, including data from studies using mutant/knockout mice and cell lines from such mice, suggest that METTL2 and METTL6 (but not METTL8) contribute to post-transcriptional methylation of cytidine (formation of 3-methylcytidine) in tRNA; METTL2 methylates tRNA(Thr) and tRNA(Arg); METTL6 interacts with seryl-tRNA synthetase and methylates tRNA(Ser); METTL8 catalyzes post-transcriptional methylation of cytidine in mRNA.
      Title: Three distinct 3-methylcytidine (m(3)C) methyltransferases modify tRNA and mRNA in mice and humans.
    Submit: New GeneRIF Correction

    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
    Multiple loci influencing hippocampal degeneration identified by genome scan.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13334, FLJ13984, FLJ31054, FLJ42098, FLJ77788

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables mRNA methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mRNA methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables tRNA (cytidine-3-)-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial tRNA modification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA C3-cytosine methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    NOT is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial
    Names
    mRNA N(3)-methylcytidine methyltransferase METTL8
    methyltransferase 8, methylcytidine
    methyltransferase like 8
    methyltransferase-like protein 8
    tension-induced/inhibited protein
    NP_001308083.1
    NP_001308084.1
    NP_001308085.1
    NP_001308086.1
    NP_001308087.1
    NP_001308088.1
    NP_001308089.1
    NP_001308090.1
    NP_001308091.1
    NP_079046.2

    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.

    mRNA and Protein(s)

    1. NM_001321154.2 → NP_001308083.1  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC007739, AK024046, AK124092, BC025250, BM930105
      Consensus CDS
      CCDS2242.2
      UniProtKB/TrEMBL
      A0A9K3Y8H4, A8K7U3, B3KW44, D3DPD3, E7ETE0
      Related
      ENSP00000364407.4, ENST00000375258.9
      Conserved Domains (1) summary
      pfam13649
      Location:200 → 303
      Methyltransf_25; Methyltransferase domain

    2. NM_001321155.2 → NP_001308084.1  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC007739, AK024046, AK124092, BC025250, BM930105
      Consensus CDS
      CCDS2242.2
      UniProtKB/TrEMBL
      A0A9K3Y8H4, A8K7U3, B3KW44, D3DPD3, E7ETE0
      Conserved Domains (1) summary
      pfam13649
      Location:200 → 303
      Methyltransf_25; Methyltransferase domain

    3. NM_001321156.2 → NP_001308085.1  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC007739, AK124092, BM930105
      Consensus CDS
      CCDS2242.2
      UniProtKB/TrEMBL
      A0A9K3Y8H4, A8K7U3, B3KW44, D3DPD3, E7ETE0
      Conserved Domains (1) summary
      pfam13649
      Location:200 → 303
      Methyltransf_25; Methyltransferase domain

    4. NM_001321157.2 → NP_001308086.1  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC007739, AK124092, AK297141, BC025250, BM930105
      UniProtKB/TrEMBL
      A8K7U3
      Conserved Domains (1) summary
      pfam13649
      Location:248 → 351
      Methyltransf_25; Methyltransferase domain

    5. NM_001321158.2 → NP_001308087.1  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC007739, AC008065, AK297141, BM930105
      UniProtKB/TrEMBL
      A8K7U3, B4DLT0
      Conserved Domains (1) summary
      pfam13649
      Location:155 → 258
      Methyltransf_25; Methyltransferase domain

    6. NM_001321159.2 → NP_001308088.1  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC007739, AK124092, BC025250, BM930105
      UniProtKB/TrEMBL
      A8K7U3
      Conserved Domains (1) summary
      pfam13649
      Location:150 → 253
      Methyltransf_25; Methyltransferase domain

    7. NM_001321160.2 → NP_001308089.1  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC007739, AC008065, BC025250, BM930105
      Consensus CDS
      CCDS82532.1
      UniProtKB/Swiss-Prot
      Q53TM9, Q53TQ0, Q9H825
      Related
      ENSP00000376382.2, ENST00000392604.6
      Conserved Domains (1) summary
      pfam13649
      Location:200 → 286
      Methyltransf_25; Methyltransferase domain

    8. NM_001321161.2 → NP_001308090.1  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC007739, AC007969, AC008065, BM930105, KF459614
      Conserved Domains (1) summary
      pfam13649
      Location:155 → 241
      Methyltransf_25; Methyltransferase domain

    9. NM_001321162.2 → NP_001308091.1  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC007739, AK024046, BM930105
      Consensus CDS
      CCDS82531.1
      UniProtKB/Swiss-Prot
      Q9H825
      Related
      ENSP00000409025.1, ENST00000447486.5
      Conserved Domains (1) summary
      pfam13649
      Location:150 → 236
      Methyltransf_25; Methyltransferase domain

    10. NM_024770.5 → NP_079046.2  tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_079046.2

      Status: VALIDATED

      Source sequence(s)
      AC007739, AK124092, AK292108, BM930105
      Consensus CDS
      CCDS2242.2
      UniProtKB/TrEMBL
      A0A9K3Y8H4, A8K7U3, B3KW44, D3DPD3, E7ETE0
      Related
      ENSP00000480056.1, ENST00000612742.5
      Conserved Domains (1) summary
      pfam13649
      Location:200 → 303
      Methyltransf_25; Methyltransferase domain

    RNA

    1. NR_135568.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007739, AC008065, BM930105, DB031573, KF459614

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      171315746..171434772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      171792877..171911912 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H825.2 GenPept UniProtKB/Swiss-Prot:Q9H825

    Gene LinkOut

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

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