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

Gene ID: 29081, updated on 3-Apr-2024

Summary

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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 nucleus; postsynapse; and presynapse. Implicated in autosomal recessive intellectual developmental disorder-72. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 27.8), thyroid (RPKM 17.4) and 25 other tissues See more
Orthologs
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Genomic context

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See METTL5 in Genome Data Viewer
Location:
2q31.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169811757..169824905, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170289301..170302459, complement)
105.20220307 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

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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. METTL5 stabilizes c-Myc by facilitating USP5 translation to reprogram glucose metabolism and promote hepatocellular carcinoma progression. Xia P, et al. Cancer Commun (Lond), 2023 Mar. PMID 36602428, Free PMC Article
  2. Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome. Torun D, et al. Turk J Pediatr, 2022. PMID 36305450
  3. The potential role of methyltransferase-like 5 in deficient mismatch repair of uterine corpus endometrial carcinoma. Liu X, et al. Bioengineered, 2022 Mar. PMID 35166644, Free PMC Article
  4. Analysis of the role of METTL5 as a hub gene in lung adenocarcinoma based on a weighted gene co-expression network. Yan X, et al. Math Biosci Eng, 2021 Aug 3. PMID 34517547
  5. Ribosome 18S m(6)A Methyltransferase METTL5 Promotes Translation Initiation and Breast Cancer Cell Growth. Rong B, et al. Cell Rep, 2020 Dec 22. PMID 33357433

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Knockdown of METTL5 inhibits the Myc pathway to downregulate PD-L1 expression and inhibits immune escape of hepatocellular carcinoma cells.
    Title: Knockdown of METTL5 inhibits the Myc pathway to downregulate PD-L1 expression and inhibits immune escape of hepatocellular carcinoma cells.
  2. METTL5 stabilizes c-Myc by facilitating USP5 translation to reprogram glucose metabolism and promote hepatocellular carcinoma progression.
    Title: METTL5 stabilizes c-Myc by facilitating USP5 translation to reprogram glucose metabolism and promote hepatocellular carcinoma progression.
  3. Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
    Title: Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
  4. The potential role of methyltransferase-like 5 in deficient mismatch repair of uterine corpus endometrial carcinoma.
    Title: The potential role of methyltransferase-like 5 in deficient mismatch repair of uterine corpus endometrial carcinoma.
  5. Ribosome 18S m(6)A Methyltransferase METTL5 Promotes Translation Initiation and Breast Cancer Cell Growth.
    Title: Ribosome 18S m(6)A Methyltransferase METTL5 Promotes Translation Initiation and Breast Cancer Cell Growth.
  6. Analysis of the role of METTL5 as a hub gene in lung adenocarcinoma based on a weighted gene co-expression network.
    Title: Analysis of the role of METTL5 as a hub gene in lung adenocarcinoma based on a weighted gene co-expression network.
  7. Enzymatic characterization of three human RNA adenosine methyltransferases reveals diverse substrate affinities and reaction optima.
    Title: Enzymatic characterization of three human RNA adenosine methyltransferases reveals diverse substrate affinities and reaction optima.
  8. METTL5-TRMT112 partners act by extruding the adenosine to be modified from a double-stranded nucleic acid.
    Title: The human 18S rRNA m6A methyltransferase METTL5 is stabilized by TRMT112.
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

Associated conditions

Description Tests
Intellectual developmental disorder, autosomal recessive 72
MedGen: C5231452 OMIM: 618665 GeneReviews: Not available
not available

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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

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Preferred Names
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)

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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_001293186.2 → NP_001280115.1  rRNA N6-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:7 → 209
    COG2263; Predicted RNA methylase [General function prediction only]

  2. NM_001293187.2 → NP_001280116.1  rRNA N6-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:7 → 209
    COG2263; Predicted RNA methylase [General function prediction only]

  3. NM_014168.4 → NP_054887.2  rRNA N6-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:7 → 209
    COG2263; Predicted RNA methylase [General function prediction only]

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_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    Related
    ENSP00000307903.3, ENST00000308099.7

  2. XM_011511023.2 → XP_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:7 → 163
    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_054341534.1 → XP_054197509.1  rRNA N6-adenosine-methyltransferase METTL5 isoform X1

  2. XM_054341533.1 → XP_054197508.1  rRNA N6-adenosine-methyltransferase METTL5 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NRN9.1 GenPept UniProtKB/Swiss-Prot:Q9NRN9

Gene LinkOut

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