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] See more...

Aliases for TUFM Gene

Aliases for TUFM Gene

  • Tu Translation Elongation Factor, Mitochondrial 2 3 5
  • Elongation Factor Tu, Mitochondrial 3 4
  • EF-Tu 3 4
  • P43 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • EF-TuMT 3
  • COXPD4 3
  • EFTU 3

External Ids for TUFM Gene

Previous GeneCards Identifiers for TUFM Gene

  • GC16U990059
  • GC16M029177
  • GC16M028851
  • GC16M028891
  • GC16M028761
  • GC16M026721

Summaries for TUFM Gene

Entrez Gene Summary for TUFM Gene

  • 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]

GeneCards Summary for TUFM Gene

TUFM (Tu Translation Elongation Factor, Mitochondrial) is a Protein Coding gene. Diseases associated with TUFM include Combined Oxidative Phosphorylation Deficiency 4 and Combined Oxidative Phosphorylation Deficiency. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is EEF1A2.

UniProtKB/Swiss-Prot Summary for TUFM Gene

  • Promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Plays also a role in the regulation of autophagy and innate immunity. Recruits ATG5-ATG12 and NLRX1 at mitochondria and serves as a checkpoint of the RIG-I/DDX58-MAVS pathway. In turn, inhibits RLR-mediated type I interferon while promoting autophagy.

Gene Wiki entry for TUFM Gene

Additional gene information for TUFM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUFM Gene

Genomics for TUFM Gene

GeneHancer (GH) Regulatory Elements for TUFM Gene

Promoters and enhancers for TUFM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUFM on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUFM

Top Transcription factor binding sites by QIAGEN in the TUFM gene promoter:
  • AP-4
  • ATF6
  • CUTL1
  • Pax-2
  • Pax-2a
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4

Genomic Locations for TUFM Gene

Genomic Locations for TUFM Gene
chr16:28,842,411-28,846,511
(GRCh38/hg38)
Size:
4,101 bases
Orientation:
Minus strand
chr16:28,853,732-28,857,729
(GRCh37/hg19)
Size:
3,998 bases
Orientation:
Minus strand

Genomic View for TUFM Gene

Genes around TUFM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUFM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUFM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUFM Gene

Proteins for TUFM Gene

  • Protein details for TUFM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49411-EFTU_HUMAN
    Recommended name:
    Elongation factor Tu, mitochondrial
    Protein Accession:
    P49411
    Secondary Accessions:
    • O15276

    Protein attributes for TUFM Gene

    Size:
    452 amino acids
    Molecular mass:
    49542 Da
    Quaternary structure:
    • Interacts with NLRX1 (PubMed:22749352). Interacts with ATG16L1 (PubMed:22749352).
    • (Microbial infection) Interacts with human parainfluenza virus 3 matrix protein; this interaction inhibits RLR-mediated type I interferon production while promoting autophagy.
    SequenceCaution:
    • Sequence=AAC60647.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH01633.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH10041.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TUFM Gene

Post-translational modifications for TUFM Gene

  • Ubiquitination at Lys79, Lys88, Lys238, Lys256, and Lys311
  • Modification sites at PhosphoSitePlus

Other Protein References for TUFM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUFM Gene

Domains & Families for TUFM Gene

Gene Families for TUFM Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TUFM Gene

GenScript: Design optimal peptide antigens:
  • P43 (EFTU_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49411

UniProtKB/Swiss-Prot:

EFTU_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.
genes like me logo Genes that share domains with TUFM: view

Function for TUFM Gene

Molecular function for TUFM Gene

UniProtKB/Swiss-Prot Function:
Promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Plays also a role in the regulation of autophagy and innate immunity. Recruits ATG5-ATG12 and NLRX1 at mitochondria and serves as a checkpoint of the RIG-I/DDX58-MAVS pathway. In turn, inhibits RLR-mediated type I interferon while promoting autophagy.
GENATLAS Biochemistry:
mitochondrial elongation factor EF-Tu

Phenotypes From GWAS Catalog for TUFM Gene

Gene Ontology (GO) - Molecular Function for TUFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003746 translation elongation factor activity IBA,IDA 9332382
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 11741979
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUFM: view
genes like me logo Genes that share phenotypes with TUFM: view

Human Phenotype Ontology for TUFM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUFM

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUFM Gene

Localization for TUFM Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUFM Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUFM gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IBA,IDA 9332382
GO:0016020 membrane HDA 19946888
GO:0042645 mitochondrial nucleoid IDA 18063578
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with TUFM: view

Pathways & Interactions for TUFM Gene

genes like me logo Genes that share pathways with TUFM: view

Pathways by source for TUFM Gene

Gene Ontology (GO) - Biological Process for TUFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006414 translational elongation IDA,IBA 9332382
GO:0045471 response to ethanol IEA --
GO:0070125 mitochondrial translational elongation IBA 21873635
genes like me logo Genes that share ontologies with TUFM: view

No data available for SIGNOR curated interactions for TUFM Gene

Drugs & Compounds for TUFM Gene

(9) Drugs for TUFM Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 2822
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target 0
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma Target 0

(5) Additional Compounds for TUFM Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with TUFM: view

Transcripts for TUFM Gene

mRNA/cDNA for TUFM Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUFM

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUFM Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: -
SP2: - -
SP3: -
SP4: - -
SP5:
SP6:

Relevant External Links for TUFM Gene

GeneLoc Exon Structure for
TUFM

Expression for TUFM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUFM Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUFM Gene



Protein tissue co-expression partners for TUFM Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUFM

SOURCE GeneReport for Unigene cluster for TUFM Gene:

Hs.12084

Evidence on tissue expression from TISSUES for TUFM Gene

  • Nervous system(4.9)
  • Lung(4.8)
  • Liver(4.7)
  • Heart(4.5)
  • Kidney(4.5)
  • Blood(4.3)
  • Skin(3.9)
  • Pancreas(3.3)
  • Muscle(3)
  • Eye(2.9)
  • Intestine(2.9)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUFM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • skull
Abdomen:
  • liver
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TUFM: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TUFM Gene

Orthologs for TUFM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUFM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUFM 31 30
  • 99.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gm9755 31
  • 93 (a)
OneToMany
Tufm 17 31 30
  • 87.73 (n)
cow
(Bos Taurus)
Mammalia TUFM 31 30
  • 89.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TUFM 31 30
  • 88.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tufm 30
  • 87.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TUFM 31
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUFM 31
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TUFM 31
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5961 30
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394927 30
zebrafish
(Danio rerio)
Actinopterygii tufm 31 30
  • 69.1 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EfTuM 31 32 30
  • 68.84 (n)
OneToOne
CG12736 32
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006996 30
  • 66.92 (n)
worm
(Caenorhabditis elegans)
Secernentea tufm-1 30
  • 58.33 (n)
Y71H2AM.23 32
  • 55 (a)
C43E11.4 32
  • 45 (a)
tufm-2 31
  • 42 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05214g 30
  • 61.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR143W 30
  • 61.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUF1 33 31 30
  • 59.23 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02930 30
  • 58.91 (n)
soybean
(Glycine max)
eudicotyledons Gma.14977 30
rice
(Oryza sativa)
Liliopsida Os03g0851100 30
  • 60.48 (n)
Os.10987 30
barley
(Hordeum vulgare)
Liliopsida Hv.2494 30
corn
(Zea mays)
Liliopsida Zm.537 30
wheat
(Triticum aestivum)
Liliopsida Ta.27962 30
bread mold
(Neurospora crassa)
Ascomycetes NCU03737 30
  • 61.97 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tuf1 30
  • 58.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.888 31
  • 50 (a)
ManyToMany
Cin.11098 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11098 30
Species where no ortholog for TUFM was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for TUFM Gene

ENSEMBL:
Gene Tree for TUFM (if available)
TreeFam:
Gene Tree for TUFM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TUFM: view image

Paralogs for TUFM Gene

Pseudogenes.org Pseudogenes for TUFM Gene

genes like me logo Genes that share paralogs with TUFM: view

Variants for TUFM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUFM Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
667506 Benign: not provided 28,843,448(-) A/G INTRON_VARIANT
668660 Likely Benign: not provided 28,845,061(-) G/C INTRON_VARIANT
741249 Likely Benign: not provided 28,843,941(-) A/C NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
744456 Likely Benign: not provided 28,844,028(-) C/T SYNONYMOUS_VARIANT
744854 Likely Benign: not provided 28,843,134(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TUFM Gene

Structural Variations from Database of Genomic Variants (DGV) for TUFM Gene

Variant ID Type Subtype PubMed ID
dgv2830n100 CNV gain 25217958
dgv2831n100 CNV gain 25217958
dgv4987n54 CNV gain 21841781
dgv502e214 CNV loss 21293372
esv2758640 CNV gain+loss 17122850
esv3570454 CNV gain 25503493
esv3638348 CNV gain 21293372
esv3892826 CNV gain+loss 25118596
nsv1059555 CNV gain 25217958
nsv1064483 CNV loss 25217958
nsv518648 CNV loss 19592680
nsv519100 CNV gain 19592680
nsv571805 CNV loss 21841781

Variation tolerance for TUFM Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUFM Gene

Human Gene Mutation Database (HGMD)
TUFM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUFM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUFM Gene

Disorders for TUFM Gene

MalaCards: The human disease database

(6) MalaCards diseases for TUFM Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TUFM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EFTU_HUMAN
  • Combined oxidative phosphorylation deficiency 4 (COXPD4) [MIM:610678]: A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes. {ECO:0000269 PubMed:17160893}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TUFM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TUFM: view

No data available for Genatlas for TUFM Gene

Publications for TUFM Gene

  1. The human mitochondrial elongation factor tu (EF-Tu) gene: cDNA sequence, genomic localization, genomic structure, and identification of a pseudogene. (PMID: 9332382) Ling M … Robinson BH (Gene 1997) 2 3 4 23 54
  2. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. (PMID: 17160893) Valente L … Zeviani M (American journal of human genetics 2007) 3 4 23 54
  3. Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. (PMID: 9545647) Shah ZH … Jacobs HT (Genomics 1998) 2 3 23 54
  4. Cloning, sequence analysis and expression of mammalian mitochondrial protein synthesis elongation factor Tu. (PMID: 8547323) Woriax VL … Spremulli LL (Biochimica et biophysica acta 1995) 3 4 23 54
  5. A mitochondrial elongation factor-like protein is over-expressed in tumours and differentially expressed in normal tissues. (PMID: 7828719) Wells J … Koshy R (FEBS letters 1995) 3 4 23 54

Products for TUFM Gene

Sources for TUFM Gene