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TUFM Tu translation elongation factor, mitochondrial [ Homo sapiens (human) ]

Gene ID: 7284, updated on 3-Jan-2019

Summary

Official Symbol
TUFMprovided by HGNC
Official Full Name
Tu translation elongation factor, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:12420
See related
Ensembl:ENSG00000178952 MIM:602389
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P43; EFTU; COXPD4; EF-TuMT
Summary
This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 62.5), colon (RPKM 52.5) and 25 other tissues See more
Orthologs

Genomic context

See TUFM in Genome Data Viewer
Location:
16p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (28842411..28859562, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28853732..28857729, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15a pseudogene 33 Neighboring gene ataxin 2 like Neighboring gene microRNA 4721 Neighboring gene SH2B adaptor protein 1 Neighboring gene ATP2A1 antisense RNA 1 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Neighboring gene rabaptin, RAB GTPase binding effector protein 2

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 4
MedGen: C1857682 OMIM: 610678 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TUFM PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human Tu translation elongation factor, mitochondrial (TUFM) at amino acid residues 81-82 and 149-150 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Mitochondrial translation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation, organism-specific biosystemOf the roughly 1000 human mitochondrial proteins only 13 proteins, all of them hydrophobic inner membrane proteins that are components of the oxidative phosphorylation apparatus, are encoded in the m...
  • Mitochondrial translation elongation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation elongation, organism-specific biosystemTranslation elongation proceeds by cycles of aminoacyl-tRNAs binding, peptide bond formation, and displacement of deacylated tRNAs (reviewed in Christian and Spremulli 2012). In each cycle an aminoac...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
translation elongation factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translation elongation factor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mitochondrial translational elongation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
translational elongation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translational elongation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
membrane HDA PubMed 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
elongation factor Tu, mitochondrial
Names
EF-Tu
epididymis secretory sperm binding protein

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.

Genomic

  1. NG_008964.1 RefSeqGene

    Range
    5001..8998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001365360.1NP_001352289.1  elongation factor Tu, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC133550
    Conserved Domains (1) summary
    cl27768
    Location:50416
    SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]
  2. NM_003321.5NP_003312.3  elongation factor Tu, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_003312.3

    Status: REVIEWED

    Source sequence(s)
    AC133550, BC010041, CA420396
    Consensus CDS
    CCDS10642.1
    UniProtKB/Swiss-Prot
    P49411
    Related
    ENSP00000322439.3, ENST00000313511.7
    Conserved Domains (1) summary
    cl27768
    Location:50444
    SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    28842411..28859562 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023619.1XP_016879108.1  elongation factor Tu, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    P49411
    Conserved Domains (1) summary
    cl27768
    Location:50444
    SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]
  2. XM_011545928.2XP_011544230.1  elongation factor Tu, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl27768
    Location:50416
    SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]
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