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    METTL4 methyltransferase 4, N6-adenosine [ Homo sapiens (human) ]

    Gene ID: 64863, updated on 3-Dec-2024

    Summary

    Official Symbol
    METTL4provided by HGNC
    Official Full Name
    methyltransferase 4, N6-adenosineprovided by HGNC
    Primary source
    HGNC:HGNC:24726
    See related
    Ensembl:ENSG00000101574 MIM:619626; AllianceGenome:HGNC:24726
    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
    HsT661
    Summary
    Enables RNA methyltransferase activity and site-specific DNA-methyltransferase (adenine-specific) activity. Involved in regulation of gene expression; regulation of mitochondrial DNA replication; and snRNA (adenine-N6)-methylation. Located in cytosol; mitochondrial matrix; and nucleus. Part of RNA N6-methyladenosine methyltransferase complex and oxidoreductase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 4.0), thyroid (RPKM 3.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See METTL4 in Genome Data Viewer
    Location:
    18p11.32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (2537530..2571505, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (2693282..2727252, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (2537529..2571504, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:2350584-2351783 Neighboring gene uncharacterized LOC105371961 Neighboring gene MPRA-validated peak3044 silencer Neighboring gene MPRA-validated peak3045 silencer Neighboring gene uncharacterized LOC124904235 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:2535575-2536114 Neighboring gene small nucleolar RNA U109 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:2570597-2571519 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:2589133-2590332 Neighboring gene NDC80 kinetochore complex component Neighboring gene katanin regulatory subunit B1 like 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13026 Neighboring gene RNA, U6 small nuclear 340, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog

    General gene information

    Markers

    Clone Names

    • FLJ23017, MGC117235

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gene expression, epigenetic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitochondrial transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in snRNA (adenine-N6)-methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RNA N6-methyladenosine methyltransferase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of oxidoreductase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    N(6)-adenine-specific methyltransferase METTL4
    Names
    N(6)-adenine-specific DNA methyltransferase METTL4
    methyltransferase like 4
    methyltransferase-like protein 4
    snRNA (2'-O-methyladenosine-N(6)-)-methyltransferase METTL4
    NP_001295330.1
    NP_073751.3
    XP_005258189.1
    XP_005258190.1
    XP_011524032.1
    XP_047293697.1
    XP_047293698.1
    XP_054174957.1
    XP_054174958.1
    XP_054174959.1
    XP_054174960.1
    XP_054174961.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001308401.2NP_001295330.1  N(6)-adenine-specific methyltransferase METTL4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, resulting in a frameshift compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AP005136
      Consensus CDS
      CCDS77144.1
      UniProtKB/TrEMBL
      A8K1T6, J3KNJ7
      Related
      ENSP00000320349.6, ENST00000319888.10
      Conserved Domains (1) summary
      cl01947
      Location:281383
      MT-A70
    2. NM_022840.5NP_073751.3  N(6)-adenine-specific methyltransferase METTL4 isoform 1

      See identical proteins and their annotated locations for NP_073751.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP005136, BC111020, BU741018, HY026088
      Consensus CDS
      CCDS11826.1
      UniProtKB/Swiss-Prot
      B2RNA1, Q2TAA7, Q8N3J2, Q9H5U9
      UniProtKB/TrEMBL
      A8K1T6
      Related
      ENSP00000458290.1, ENST00000574538.2
      Conserved Domains (1) summary
      cl01947
      Location:281455
      MT-A70

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      2537530..2571505 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258133.4XP_005258190.1  N(6)-adenine-specific methyltransferase METTL4 isoform X4

      UniProtKB/TrEMBL
      I6L9E3
      Conserved Domains (1) summary
      cl01947
      Location:134308
      MT-A70
    2. XM_011525730.4XP_011524032.1  N(6)-adenine-specific methyltransferase METTL4 isoform X3

      Conserved Domains (1) summary
      cl01947
      Location:281300
      MT-A70
    3. XM_005258132.5XP_005258189.1  N(6)-adenine-specific methyltransferase METTL4 isoform X2

      Conserved Domains (1) summary
      cl01947
      Location:281358
      MT-A70
    4. XM_047437741.1XP_047293697.1  N(6)-adenine-specific methyltransferase METTL4 isoform X1

      UniProtKB/TrEMBL
      A8K1T6
    5. XM_047437742.1XP_047293698.1  N(6)-adenine-specific methyltransferase METTL4 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      2693282..2727252 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318985.1XP_054174960.1  N(6)-adenine-specific methyltransferase METTL4 isoform X4

      UniProtKB/TrEMBL
      I6L9E3
    2. XM_054318984.1XP_054174959.1  N(6)-adenine-specific methyltransferase METTL4 isoform X3

    3. XM_054318983.1XP_054174958.1  N(6)-adenine-specific methyltransferase METTL4 isoform X2

    4. XM_054318982.1XP_054174957.1  N(6)-adenine-specific methyltransferase METTL4 isoform X1

      UniProtKB/TrEMBL
      A8K1T6
    5. XM_054318986.1XP_054174961.1  N(6)-adenine-specific methyltransferase METTL4 isoform X5