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

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; AllianceGenome:HGNC:12420
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: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (28842411..28846348, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (29122980..29140210, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (28853732..28857669, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency.
Title: Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency.
TUFM is involved in Alzheimer's disease-like pathologies that are associated with ROS.
Title: TUFM is involved in Alzheimer's disease-like pathologies that are associated with ROS.
Elongation Factor Tu Switch I Element is a Gate for Aminoacyl-tRNA Selection.
Title: Elongation Factor Tu Switch I Element is a Gate for Aminoacyl-tRNA Selection.
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Title: Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
study revealed a novel role for TUFM as a host restriction factor that exerts an inhibitory effect on avian-signature PB2627E influenza virus propagation in human cells; found that increased TUFM-dependent autophagy correlates with the inhibitory effect on avian-signature influenza virus replication and may serve as a key intrinsic mechanism to restrict avian influenza virus infection in humans
Title: Inhibition of Avian Influenza A Virus Replication in Human Cells by Host Restriction Factor TUFM Is Correlated with Autophagy.
High expression of TUFM is associated with colorectal cancer.
Title: Expression and clinicopathologic significance of TUFM and p53 for the normal-adenoma-carcinoma sequence in colorectal epithelia.
we identify a novel signaling hub centering on the NLRX1 TUFM protein complex, promoting autophagic flux. Defects in the expression of either NLRX1 or TUFM result in compromised autophagy when treated with EGFR inhibitors.These findings expand our understanding of the components involved in head and neck squamous cell carcinoma autophagy machinery that responds to EGFR inhibitors.
Title: EGFR-targeted mAb therapy modulates autophagy in head and neck squamous cell carcinoma through NLRX1-TUFM protein complex.
TUFM is a novel regulator of epithelial-mesenchymal transition (EMT); there may be a molecular link between mitochondrial dysfunction and EMT induction
Title: TUFM downregulation induces epithelial-mesenchymal transition and invasion in lung cancer cells via a mechanism involving AMPK-GSK3β signaling.
NLRX1 and TUFM work in concert to reduce cytokine response and augment autophagy.
Title: The NLR protein, NLRX1, and its partner, TUFM, reduce type I interferon, and enhance autophagy.
Increased expression of TUFM is a promising new prognostic indicator for colorectal carcinoma.
Title: TUFM is a potential new prognostic indicator for colorectal carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Combined oxidative phosphorylation defect type 4 MedGen: C1857682 OMIM: 610678 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSC0MH022 (e-PCR)
- UniSTS:63518

RH27929 (e-PCR)
- UniSTS:91822

RH11620 (e-PCR)
- UniSTS:84211

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables translation elongation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables translation elongation factor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial translational elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in translational elongation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: elongation factor Tu, mitochondrial

Names: EF-Tu; epididymis secretory sperm binding protein

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.

Genomic

NG_008964.1 RefSeqGene

Range

5061..8998

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC133550

Conserved Domains (1) summary

cl27768
Location:50 → 416

SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]
NM_003321.5 → NP_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

O15276, P49411

UniProtKB/TrEMBL

A0A384ME17

Related

ENSP00000322439.3, ENST00000313511.8

Conserved Domains (1) summary

cl27768
Location:50 → 444

SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]