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    METTL5 methyltransferase 5, N6-adenosine [ Homo sapiens (human) ]

    Gene ID: 29081, updated on 7-Dec-2024

    Summary

    Official Symbol
    METTL5provided by HGNC
    Official Full Name
    methyltransferase 5, N6-adenosineprovided by HGNC
    Primary source
    HGNC:HGNC:25006
    See related
    Ensembl:ENSG00000138382 MIM:618628; AllianceGenome:HGNC:25006
    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
    MRT72; HSPC133
    Summary
    Enables S-adenosyl-L-methionine binding activity and rRNA (adenine-N6-)-methyltransferase activity. Involved in positive regulation of translation and rRNA methylation. Located in several cellular components, including fibrillar center; postsynapse; and presynapse. Implicated in autosomal recessive intellectual developmental disorder 72. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 27.8), thyroid (RPKM 17.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See METTL5 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169811757..169824905, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170289301..170302459, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170668267..170681415, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:170646034-170646713 Neighboring gene uncharacterized LOC124907905 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:170655164-170655664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12086 Neighboring gene cytochrome b5 type A pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170681961-170682164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:170685725-170686226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:170686227-170686726 Neighboring gene small nucleolar RNA, C/D box 3K Neighboring gene small RNA binding exonuclease protection factor La Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170696663-170696887 Neighboring gene ubiquitin protein ligase E3 component n-recognin 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:170809766-170810965 Neighboring gene Sharpr-MPRA regulatory region 15130 Neighboring gene VISTA enhancer hs1867 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:170934286-170935065 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:170947905-170948472 Neighboring gene NSA2 pseudogene 5 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170962392-170962892 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170962893-170963393 Neighboring gene RNA, U6 small nuclear 1006, 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10459

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables S-adenosyl-L-methionine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables rRNA (adenine-N6-)-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables rRNA (adenine-N6-)-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in rRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in rRNA methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in rRNA processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in presynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    rRNA N(6)-adenosine-methyltransferase METTL5; rRNA N6-adenosine-methyltransferase METTL5
    Names
    methyltransferase like 5
    methyltransferase-like protein 5
    NP_001280115.1
    NP_001280116.1
    NP_054887.2
    XP_011509325.1
    XP_047299971.1
    XP_054197508.1
    XP_054197509.1

    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_001293186.2NP_001280115.1  rRNA N(6)-adenosine-methyltransferase METTL5

      See identical proteins and their annotated locations for NP_001280115.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AF201938, CA337169
      Consensus CDS
      CCDS33320.1
      UniProtKB/Swiss-Prot
      D3DPC9, Q9NRN9, Q9NVX1
      UniProtKB/TrEMBL
      B8ZZE3
      Related
      ENSP00000386582.1, ENST00000409965.5
      Conserved Domains (1) summary
      COG2263
      Location:7209
      COG2263; Predicted RNA methylase [General function prediction only]
    2. NM_001293187.2NP_001280116.1  rRNA N(6)-adenosine-methyltransferase METTL5

      See identical proteins and their annotated locations for NP_001280116.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AF201938, BC093014
      Consensus CDS
      CCDS33320.1
      UniProtKB/Swiss-Prot
      D3DPC9, Q9NRN9, Q9NVX1
      UniProtKB/TrEMBL
      B8ZZE3
      Related
      ENSP00000376415.2, ENST00000392640.6
      Conserved Domains (1) summary
      COG2263
      Location:7209
      COG2263; Predicted RNA methylase [General function prediction only]
    3. NM_014168.4NP_054887.2  rRNA N(6)-adenosine-methyltransferase METTL5

      See identical proteins and their annotated locations for NP_054887.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AL523293, BC000921, CA337169
      Consensus CDS
      CCDS33320.1
      UniProtKB/Swiss-Prot
      D3DPC9, Q9NRN9, Q9NVX1
      UniProtKB/TrEMBL
      B8ZZE3
      Related
      ENSP00000260953.5, ENST00000260953.10
      Conserved Domains (1) summary
      COG2263
      Location:7209
      COG2263; Predicted RNA methylase [General function prediction only]

    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
      169811757..169824905 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444015.1XP_047299971.1  rRNA N6-adenosine-methyltransferase METTL5 isoform X1

      UniProtKB/TrEMBL
      B8ZZE3
      Related
      ENSP00000307903.3, ENST00000308099.7
    2. XM_011511023.2XP_011509325.1  rRNA N6-adenosine-methyltransferase METTL5 isoform X1

      See identical proteins and their annotated locations for XP_011509325.1

      UniProtKB/TrEMBL
      B8ZZE3
      Conserved Domains (1) summary
      COG2263
      Location:7163
      COG2263; Predicted RNA methylase [General function prediction only]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      170289301..170302459 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341534.1XP_054197509.1  rRNA N6-adenosine-methyltransferase METTL5 isoform X1

      UniProtKB/TrEMBL
      B8ZZE3
    2. XM_054341533.1XP_054197508.1  rRNA N6-adenosine-methyltransferase METTL5 isoform X1

      UniProtKB/TrEMBL
      B8ZZE3