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ETFBKMT electron transfer flavoprotein subunit beta lysine methyltransferase [ Homo sapiens (human) ]

Gene ID: 254013, updated on 13-Mar-2020

Summary

Official Symbol
ETFBKMTprovided by HGNC
Official Full Name
electron transfer flavoprotein subunit beta lysine methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:28739
See related
Ensembl:ENSG00000139160 MIM:615256
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
METTL20; C12orf72; ETFB-KMT
Expression
Ubiquitous expression in kidney (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues See more
Orthologs

Genomic context

See ETFBKMT in Genome Data Viewer
Location:
12p11.21
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (31647160..31673114)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (31800094..31822016)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DENND5B antisense RNA 1 Neighboring gene ribosomal protein L31 pseudogene 50 Neighboring gene adenylate kinase 4 pseudogene 3 Neighboring gene antagonist of mitotic exit network 1 homolog Neighboring gene uncharacterized LOC105369722 Neighboring gene stathmin 1 pseudogene 1

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC50559

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heat shock protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-lysine N-methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
negative regulation of electron transfer activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-lysine methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-lysine trimethylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein methylation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
electron transfer flavoprotein beta subunit lysine methyltransferase
Names
ETFB lysine methyltransferase
methyltransferase like 20
methyltransferase-like protein 20
protein N-lysine methyltransferase METTL20
NP_001129335.1
NP_001129336.1
NP_776163.1
XP_024304691.1
XP_024304692.1
XP_024304693.1

NCBI Reference Sequences (RefSeq)

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_001135863.2NP_001129335.1  electron transfer flavoprotein beta subunit lysine methyltransferase

    See identical proteins and their annotated locations for NP_001129335.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different segment for its 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC023157, BC039107, BC039417, DA303137
    Consensus CDS
    CCDS8724.1
    UniProtKB/Swiss-Prot
    Q8IXQ9
    Related
    ENSP00000350353.3, ENST00000357721.3
    Conserved Domains (1) summary
    COG3897
    Location:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]
  2. NM_001135864.1NP_001129336.1  electron transfer flavoprotein beta subunit lysine methyltransferase

    See identical proteins and their annotated locations for NP_001129336.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses a different segment for its 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC023157, AK290248, BC039417
    Consensus CDS
    CCDS8724.1
    UniProtKB/Swiss-Prot
    Q8IXQ9
    Related
    ENSP00000396123.2, ENST00000412352.6
    Conserved Domains (1) summary
    COG3897
    Location:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]
  3. NM_173802.4NP_776163.1  electron transfer flavoprotein beta subunit lysine methyltransferase

    See identical proteins and their annotated locations for NP_776163.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC023157, BC039417, BC039535
    Consensus CDS
    CCDS8724.1
    UniProtKB/Swiss-Prot
    Q8IXQ9
    Related
    ENSP00000379112.3, ENST00000395763.7
    Conserved Domains (1) summary
    COG3897
    Location:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    31647160..31673114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448923.1XP_024304691.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

    Conserved Domains (1) summary
    COG3897
    Location:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]
  2. XM_024448924.1XP_024304692.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

    Conserved Domains (1) summary
    COG3897
    Location:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]
  3. XM_024448925.1XP_024304693.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

    Conserved Domains (1) summary
    COG3897
    Location:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]
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