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METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase [ Homo sapiens (human) ]

Gene ID: 51603, updated on 17-Jul-2021

Summary

Official Symbol
METTL13provided by HGNC
Official Full Name
methyltransferase 13, eEF1A lysine and N-terminal methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:24248
See related
Ensembl:ENSG00000010165 MIM:617987
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
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

See METTL13 in Genome Data Viewer
Location:
1q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (171781660..171797716)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (171750800..171766856)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371614 Neighboring gene Sharpr-MPRA regulatory region 13770 Neighboring gene ribosomal protein S15 pseudogene 3 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10310, KIAA0859

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
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

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 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_001007239.2NP_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:344494
    SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
    pfam08241
    Location:53151
    Methyltransf_11; Methyltransferase domain
    cl17173
    Location:343517
    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_014955.3NP_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/Swiss-Prot
    Q8N6R0
    Related
    ENSP00000355393.3, ENST00000362019.7
    Conserved Domains (2) summary
    COG0500
    Location:414564
    SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
    cl17173
    Location:413587
    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_015935.5NP_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
    Q8N6R0
    UniProtKB/TrEMBL
    C4B4C6
    Related
    ENSP00000354920.3, ENST00000361735.4
    Conserved Domains (3) summary
    COG0500
    Location:500650
    SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
    pfam08241
    Location:53158
    Methyltransf_11; Methyltransferase domain
    cl17173
    Location:499673
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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