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

Summary

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, Dec 2024]
Expression: Ubiquitous expression in lymph node (RPKM 4.6), thyroid (RPKM 3.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (169792529..169794907, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (169148308..169150686, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (169761670..169764048, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32987 (e-PCR)
- UniSTS:117564

A009Y28 (e-PCR)
- UniSTS:1162

AL009882 (e-PCR)
- UniSTS:71640

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

Process	Evidence Code	Pubs
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	IBA Inferred from Biological aspect of Ancestor more info
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

EC 2.1.1.85

NP_001307130.1

EC 2.1.1.85

NP_219486.1

EC 2.1.1.85

XP_006711690.1

EC 2.1.1.85

XP_054195593.1

EC 2.1.1.85

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)

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). ...
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). ...
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_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

169792529..169794907 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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). ...