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METTL18 methyltransferase 18, RPL3 N3(tau)-histidine [ Homo sapiens (human) ]

Gene ID: 92342, updated on 17-Jun-2024

Summary

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Official Symbol
METTL18provided by HGNC
Official Full Name
methyltransferase 18, RPL3 N3(tau)-histidineprovided by HGNC
Primary source
HGNC:HGNC:28793
See related
Ensembl:ENSG00000171806 MIM:615255; AllianceGenome:HGNC:28793
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
HPM1; AsTP2; C1orf156
Summary
Enables heat shock protein binding activity and protein-L-histidine N-tele-methyltransferase activity. Involved in peptidyl-lysine monomethylation; regulation of gene expression; and regulation of ribosome biogenesis. Located in cytosol and nucleolus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 4.6), thyroid (RPKM 3.3) and 25 other tissues See more
Orthologs
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Genomic context

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See METTL18 in Genome Data Viewer
Location:
1q24.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169792529..169794907, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (169148308..169150686, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169761670..169764048, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene selectin E Neighboring gene uncharacterized LOC101928628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:169751147-169751648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2079 Neighboring gene FIGNL1 interacting regulator of recombination and mitosis Neighboring gene MPRA-validated peak450 silencer Neighboring gene RNA, 7SL, cytoplasmic 333, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2080 Neighboring gene SCY1 like pseudokinase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:169862205-169862792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:169862793-169863380 Neighboring gene VISTA enhancer hs1442 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:169914181-169914349 Neighboring gene kinesin associated protein 3 Neighboring gene RNA, 7SL, cytoplasmic 269, 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. METTL18-mediated histidine methylation of RPL3 modulates translation elongation for proteostasis maintenance. Matsuura-Suzuki E, et al. Elife, 2022 Jun 8. PMID 35674491, Free PMC Article
  2. Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and function. Małecki JM, et al. Nucleic Acids Res, 2021 Apr 6. PMID 33693809, Free PMC Article
  3. A novel 3-methylhistidine modification of yeast ribosomal protein Rpl3 is dependent upon the YIL110W methyltransferase. Webb KJ, et al. J Biol Chem, 2010 Nov 26. PMID 20864530, Free PMC Article
  4. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. Cheung CL, et al. Hum Mol Genet, 2009 Feb 15. PMID 19064610
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Ehret GB, et al. Eur J Hum Genet, 2009 Dec. PMID 19536175, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. METTL18-mediated histidine methylation of RPL3 modulates translation elongation for proteostasis maintenance.
    Title: METTL18-mediated histidine methylation of RPL3 modulates translation elongation for proteostasis maintenance.
  2. Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and function.
    Title: Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and function.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
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

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

  • MGC9084

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables heat shock protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-L-histidine N-tele-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-L-histidine N-tele-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein-lysine N-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in peptidyl-histidine methylation, to form tele-methylhistidine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-lysine methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-lysine monomethylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of rRNA processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of ribosome biogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of translation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of translational elongation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
histidine protein methyltransferase 1 homolog
Names
arsenic-transactivated protein 2
methyltransferase 18, RPL3 N3-histidine
methyltransferase like 18
methyltransferase-like protein 18
NP_001307128.1
NP_001307130.1
NP_219486.1
XP_006711690.1
XP_054195593.1

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_001320199.2 → NP_001307128.1  histidine protein methyltransferase 1 homolog

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    BC008679, BG614785, HY159746
    Consensus CDS
    CCDS1284.1
    UniProtKB/Swiss-Prot
    B2R9T5, O95568
    Conserved Domains (1) summary
    cl17173
    Location:165 → 324
    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). ...

  2. NM_001320201.2 → NP_001307130.1  histidine protein methyltransferase 1 homolog

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    BC008679
    Consensus CDS
    CCDS1284.1
    UniProtKB/Swiss-Prot
    B2R9T5, O95568
    Related
    ENSP00000307077.2, ENST00000303469.6
    Conserved Domains (1) summary
    cl17173
    Location:165 → 324
    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). ...

  3. NM_033418.4 → NP_219486.1  histidine protein methyltransferase 1 homolog

    See identical proteins and their annotated locations for NP_219486.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    BC008679, HY159746
    Consensus CDS
    CCDS1284.1
    UniProtKB/Swiss-Prot
    B2R9T5, O95568
    Related
    ENSP00000307975.4, ENST00000310392.5
    Conserved Domains (1) summary
    cl17173
    Location:165 → 324
    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). ...

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    169792529..169794907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711627.4 → XP_006711690.1  histidine protein methyltransferase 1 homolog isoform X1

    See identical proteins and their annotated locations for XP_006711690.1

    UniProtKB/Swiss-Prot
    B2R9T5, O95568
    Conserved Domains (1) summary
    cl17173
    Location:165 → 324
    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_060925.1 Alternate T2T-CHM13v2.0

    Range
    169148308..169150686 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339618.1 → XP_054195593.1  histidine protein methyltransferase 1 homolog isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95568.1 GenPept UniProtKB/Swiss-Prot:O95568

Gene LinkOut

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

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