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METTL13 methyltransferase 13, eEF1A N-terminus and K55 [ Homo sapiens (human) ]

Gene ID: 51603, updated on 27-Nov-2024

Summary

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Official Symbol
METTL13provided by HGNC
Official Full Name
methyltransferase 13, eEF1A N-terminus and K55provided by HGNC
Primary source
HGNC:HGNC:24248
See related
Ensembl:ENSG00000010165 MIM:617987; AllianceGenome:HGNC:24248
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
feat; DFNM1; CGI-01; DFNB26; DFNB26M; KIAA0859; EEF1AKNMT; 5630401D24Rik
Summary
Enables protein-lysine N-methyltransferase activity. Predicted to be involved in methylation. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 10.7), lymph node (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

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See METTL13 in Genome Data Viewer
Location:
1q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (171781660..171797716)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (171138134..171154190)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (171750800..171766856)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 3 pseudogene Neighboring gene uncharacterized LOC124900454 Neighboring gene Sharpr-MPRA regulatory region 13770 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:171762946-171764145 Neighboring gene ribosomal protein S15 pseudogene 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:171786162-171787148 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:171787149-171788134 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 3

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. FEAT expression correlates with tumor size, PR status, HER2 expression, Ki67 index, and molecular subtype and predicts recurrence in breast cancer. Wang SM, et al. Neoplasma, 2017. PMID 27881013
  2. A novel potent tumour promoter aberrantly overexpressed in most human cancers. Takahashi A, et al. Sci Rep, 2011. PMID 22355534, Free PMC Article
  3. METTL13 Methylation of eEF1A Increases Translational Output to Promote Tumorigenesis. Liu S, et al. Cell, 2019 Jan 24. PMID 30612740, Free PMC Article
  4. METTL13 inhibits progression of clear cell renal cell carcinoma with repression on PI3K/AKT/mTOR/HIF-1α pathway and c-Myc expression. Liu Z, et al. J Transl Med, 2021 May 13. PMID 33985542, Free PMC Article
  5. The dual methyltransferase METTL13 targets N terminus and Lys55 of eEF1A and modulates codon-specific translation rates. Jakobsson ME, et al. Nat Commun, 2018 Aug 24. PMID 30143613, Free PMC Article

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biological Relevance of Dual Lysine and N-Terminal Methyltransferase METTL13.
    Title: Biological Relevance of Dual Lysine and N-Terminal Methyltransferase METTL13.
  2. METTL13 promotes nasopharyngeal carcinoma progression through regulating the ZEB1/TPT1 axis.
    Title: METTL13 promotes nasopharyngeal carcinoma progression through regulating the ZEB1/TPT1 axis.
  3. METTL13 inhibits progression of clear cell renal cell carcinoma with repression on PI3K/AKT/mTOR/HIF-1alpha pathway and c-Myc expression.
    Title: METTL13 inhibits progression of clear cell renal cell carcinoma with repression on PI3K/AKT/mTOR/HIF-1α pathway and c-Myc expression.
  4. MiR-16 inhibits hepatocellular carcinoma progression by targeting FEAT through NF-kappaB signaling pathway.
    Title: MiR-16 inhibits hepatocellular carcinoma progression by targeting FEAT through NF-κB signaling pathway.
  5. METTL13 and eEF1AK55me2 levels are upregulated in cancer and negatively correlate with pancreatic and lung cancer patient survival. METTL13 deletion and eEF1AK55me2 loss dramatically reduce Ras-driven neoplastic growth in mouse models and in patient-derived xenografts (PDXs) from primary pancreatic and lung tumors.
    Title: METTL13 Methylation of eEF1A Increases Translational Output to Promote Tumorigenesis.
  6. The Mettl3-Mettl14-mediated m6A was found to promote the development of acute myeloid leukemia and maintain leukemia-initiating cells.
    Title: Mettl3-Mettl14 methyltransferase complex regulates the quiescence of adult hematopoietic stem cells.
  7. The DFNM1 gene modified the phenotype of a inherited deafness family possibly by silencing the DFNB26 mutated gene.
    Title: Some deafness-causing mutations can be silenced with the appropriate gene partner.
  8. Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
    Title: Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
  9. disease-free survival and overall survival were significantly shorter in breast cancer patients with high FEAT expression than in those with low expression of FEAT
    Title: FEAT expression correlates with tumor size, PR status, HER2 expression, Ki67 index, and molecular subtype and predicts recurrence in breast cancer.
  10. METTL13 gene rs2232825 locus or a linked functional locus may modulate the vulnerability to development of postpartum psychosis.
    Title: Estrogen pathway related genes and their association with risk of postpartum psychosis: A case control study.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Deafness, autosomal recessive 26, modifier of
MedGen: C1854274 OMIM: 605429 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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10310, KIAA0859

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in methylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
eEF1A lysine and N-terminal methyltransferase
Names
antiapoptotic protein FEAT
deafness (autosomal recessive, nonsyndromic) modifier 1
deafness (recessive, non-syndromic) modifier 1
deafness (recessive, nonsyndromic) modifier 1
eEF1A-KNMT
faint expression in normal tissues, aberrant overexpression in tumors
methyltransferase 13, eEF1A lysine and N-terminal methyltransferase
methyltransferase like 13
methyltransferase-like protein 13
NP_001007240.1
NP_055770.1
NP_057019.3

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_001007239.2 → NP_001007240.1  eEF1A lysine and N-terminal methyltransferase isoform 3

    See identical proteins and their annotated locations for NP_001007240.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment in the 5' coding region, as compared to variant 1. The encoded isoform 3 thus lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AL049669, BI091265, BX094025
    Consensus CDS
    CCDS30936.1
    UniProtKB/Swiss-Prot
    Q8N6R0
    Related
    ENSP00000356711.5, ENST00000367737.9
    Conserved Domains (3) summary
    COG0500
    Location:344 → 494
    SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
    pfam08241
    Location:53 → 151
    Methyltransf_11; Methyltransferase domain
    cl17173
    Location:343 → 517
    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_014955.3 → NP_055770.1  eEF1A lysine and N-terminal methyltransferase isoform 2

    See identical proteins and their annotated locations for NP_055770.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 5' region and uses a downstream AUG start codon, as compared to variant 1. The encoded isoform 2 has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK027621, AL049669, BI091265, BX094025
    Consensus CDS
    CCDS1300.1
    UniProtKB/TrEMBL
    B3KNM8
    Related
    ENSP00000355393.3, ENST00000362019.7
    Conserved Domains (2) summary
    COG0500
    Location:414 → 564
    SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
    cl17173
    Location:413 → 587
    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_015935.5 → NP_057019.3  eEF1A lysine and N-terminal methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_057019.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB020666, AF132936, AL049669, BI091265, BX094025
    Consensus CDS
    CCDS1299.1
    UniProtKB/Swiss-Prot
    A6NFK0, A8K6S5, O94940, Q53EZ6, Q5TGP9, Q5TGQ0, Q8N2P8, Q8N6R0, Q96J11, Q96SQ0, Q9Y2Z1, Q9Y3M6
    UniProtKB/TrEMBL
    B3KNI0, C4B4C6
    Related
    ENSP00000354920.3, ENST00000361735.4
    Conserved Domains (3) summary
    COG0500
    Location:500 → 650
    SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
    pfam08241
    Location:53 → 158
    Methyltransf_11; Methyltransferase domain
    cl17173
    Location:499 → 673
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    171781660..171797716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    171138134..171154190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N6R0.1 GenPept UniProtKB/Swiss-Prot:Q8N6R0

Gene LinkOut

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