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

    Gene ID: 196541, updated on 10-Dec-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 peptidyl-lysine methylation. Located in cytoplasm and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See METTL21C in Genome Data Viewer
    Location:
    13q33.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (102685747..102704300, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (101901727..101922383, complement)
    RS_2024_09 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)

    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 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 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 
    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
    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_2024_08

    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

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

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