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METTL21C methyltransferase 21C, AARS1 lysine [ Homo sapiens (human) ]

Gene ID: 196541, updated on 5-Mar-2024

Summary

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Official Symbol
METTL21Cprovided by HGNC
Official Full Name
methyltransferase 21C, AARS1 lysineprovided by HGNC
Primary source
HGNC:HGNC:33717
See related
Ensembl:ENSG00000139780 MIM:615259; AllianceGenome:HGNC:33717
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
C13orf39
Summary
Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in protein methylation. Located in nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
13q33.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (102685747..102704300, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (101901727..101922383, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103338097..103347394, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5482 Neighboring gene tripeptidyl peptidase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103368105-103368334 Neighboring gene small nucleolar RNA U13 Neighboring gene coiled-coil domain containing 168 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103407292-103407513

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. Association between SNPs and haplotypes in the METTL21C gene and peak bone mineral density and body composition in Chinese male nuclear families. Zhao F, et al. J Bone Miner Metab, 2017 Jul. PMID 27628047
  2. Methyltransferase-like 21C (METTL21C) methylates alanine tRNA synthetase at Lys-943 in muscle tissue. Zoabi M, et al. J Biol Chem, 2020 Aug 14. PMID 32611769, Free PMC Article
  3. Lysine methylation of VCP by a member of a novel human protein methyltransferase family. Kernstock S, et al. Nat Commun, 2012. PMID 22948820
  4. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. Cloutier P, et al. PLoS Genet, 2013. PMID 23349634, Free PMC Article
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. the polymorphisms and haplotypes of METTL21C contribute to the peak bone mineral density and total fat mass in Chinese males.
    Title: Association between SNPs and haplotypes in the METTL21C gene and peak bone mineral density and body composition in Chinese male nuclear families.
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

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-lysine N-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in hormone-mediated apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in peptidyl-lysine methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-lysine methylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein methylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein-lysine methyltransferase METTL21C
Names
methyltransferase like 21C
methyltransferase-like protein 21C

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_001010977.3 → NP_001010977.1  protein-lysine methyltransferase METTL21C

    See identical proteins and their annotated locations for NP_001010977.1

    Status: VALIDATED

    Source sequence(s)
    AL158063
    Consensus CDS
    CCDS32003.1
    UniProtKB/Swiss-Prot
    Q5VZV1
    Related
    ENSP00000267273.5, ENST00000267273.7
    Conserved Domains (1) summary
    cl17173
    Location:73 → 239
    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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    102685747..102704300 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430117.1 → XP_047286073.1  protein-lysine methyltransferase METTL21C isoform X1

    UniProtKB/Swiss-Prot
    Q5VZV1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    101901727..101922383 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374151.1 → XP_054230126.1  protein-lysine methyltransferase METTL21C isoform X1

  2. XM_054374152.1 → XP_054230127.1  protein-lysine methyltransferase METTL21C isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VZV1.1 GenPept UniProtKB/Swiss-Prot:Q5VZV1

Gene LinkOut

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