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Aliases for TUFM Gene

Aliases for TUFM Gene

  • Tu Translation Elongation Factor, Mitochondrial 2 3 5
  • EF-Tu 3 4
  • P43 3 4
  • Elongation Factor Tu, Mitochondrial 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. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding and GTPase activity. An important paralog of this gene is EEFSEC.

UniProtKB/Swiss-Prot for TUFM Gene

  • This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.

Gene Wiki entry for TUFM Gene

Additional gene information for TUFM Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUFM Gene

Genomics for TUFM Gene

Regulatory Elements for TUFM Gene

Enhancers for TUFM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H028821 1.4 ENCODE dbSUPER 79.4 +22.4 22380 4.4 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 TUFM NPIPB12 ENSG00000198106 SH2B1 ATXN2L NPIPB11 ENSG00000260853 CA5AP1 ENSG00000251417 SPNS1
GH16H028874 1.3 Ensembl ENCODE 59 -31.4 -31403 6.4 HDGF FEZF1 GLI4 ZNF2 GLIS2 ZNF143 KLF7 FOS RUNX3 SP3 TUFM CD19 RABEP2 NFATC2IP CDC37P1 ATP2A1 ENSG00000261766
GH16H028861 1.2 ENCODE 59 -18.1 -18110 5.6 HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 CBX5 TUFM ATXN2L ENSG00000260853 NPIPB12 NFATC2IP SPNS1 ENSG00000260367 SMG1P2 SULT1A2 NPIPB10P
GH16H028922 1.4 ENCODE dbSUPER 48.6 -77.8 -77775 4.2 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A ZNF2 ZBTB7B YY1 TUFM CDC37P1 GC16P028925 GC16M028787
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUFM on UCSC Golden Path with GeneCards custom track

Promoters for TUFM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for TUFM Gene

Genomic Locations for TUFM Gene
4,101 bases
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:
    Recommended name:
    Elongation factor Tu, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • O15276

    Protein attributes for TUFM Gene

    452 amino acids
    Molecular mass:
    49542 Da
    Quaternary structure:
    No Data Available
    • 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 Lys88 and Lys311
  • Modification sites at PhosphoSitePlus

Other Protein References for TUFM Gene

No data available for DME Specific Peptides for TUFM Gene

Domains & Families for TUFM Gene

Gene Families for TUFM Gene

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

Suggested Antigen Peptide Sequences for TUFM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.
  • 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

GENATLAS Biochemistry:
mitochondrial elongation factor EF-Tu
UniProtKB/Swiss-Prot Function:
This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.

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 IDA 22658674
GO:0003746 translation elongation factor activity 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

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


Subcellular locations from

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
extracellular 5
mitochondrion 5
cytosol 2
nucleus 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 IDA,IEA 9332382
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0042645 mitochondrial nucleoid IDA 18063578
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 9332382
GO:0045471 response to ethanol IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma Target 2359
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
genes like me logo Genes that share compounds with TUFM: view

Transcripts for TUFM Gene

Unigene Clusters for TUFM Gene

Tu translation elongation factor, mitochondrial:
Representative Sequences:

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: - -

Relevant External Links for TUFM Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TUFM Gene

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

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

Protein tissue co-expression partners for TUFM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TUFM Gene:


SOURCE GeneReport for Unigene cluster for TUFM Gene:


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
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • skull
  • liver
  • 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
(Pan troglodytes)
Mammalia TUFM 33 34
  • 99.41 (n)
(Mus musculus)
Mammalia Gm9755 34
  • 93 (a)
Tufm 33 16 34
  • 87.73 (n)
(Bos Taurus)
Mammalia TUFM 33 34
  • 89.36 (n)
(Canis familiaris)
Mammalia TUFM 33 34
  • 88.4 (n)
(Rattus norvegicus)
Mammalia Tufm 33
  • 87.51 (n)
(Ornithorhynchus anatinus)
Mammalia TUFM 34
  • 86 (a)
(Monodelphis domestica)
Mammalia TUFM 34
  • 84 (a)
(Anolis carolinensis)
Reptilia TUFM 34
  • 76 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5961 33
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394927 33
(Danio rerio)
Actinopterygii tufm 33 34
  • 69.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta EfTuM 35 33 34
  • 68.84 (n)
CG12736 35
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006996 33
  • 66.92 (n)
(Caenorhabditis elegans)
Secernentea tufm-1 33
  • 58.33 (n)
Y71H2AM.23 35
  • 55 (a)
C43E11.4 35
  • 45 (a)
tufm-2 34
  • 42 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05214g 33
  • 61.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR143W 33
  • 61.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUF1 33 34 36
  • 59.23 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02930 33
  • 58.91 (n)
(Glycine max)
eudicotyledons Gma.14977 33
(Oryza sativa)
Liliopsida Os03g0851100 33
  • 60.48 (n)
Os.10987 33
(Hordeum vulgare)
Liliopsida Hv.2494 33
(Triticum aestivum)
Liliopsida Ta.27962 33
(Zea mays)
Liliopsida Zm.537 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03737 33
  • 61.97 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tuf1 33
  • 58.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.888 34
  • 50 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11098 33
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

Gene Tree for TUFM (if available)
Gene Tree for TUFM (if available)

Paralogs for TUFM Gene

Paralogs for TUFM Gene Pseudogenes for TUFM Gene

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

Variants for TUFM Gene

Sequence variations from dbSNP and Humsavar for TUFM Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_031902 Combined oxidative phosphorylation deficiency 4 (COXPD4) [MIM:610678]
rs1057518742 Pathogenic 28,845,030(-) ACCCC(A/T)CGACG upstream-variant-2KB, reference, missense
rs1057518743 Pathogenic 28,845,997(-) ACTTA(-/C)GTGCG upstream-variant-2KB, reference, frameshift-variant
rs121434452 Pathogenic 28,844,008(-) GCGGC(A/G)GGGCC upstream-variant-2KB, reference, missense
rs863224246 Likely pathogenic 28,843,147(-) CTAGG(A/G)GCTTG reference, missense

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

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

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)

Relevant External Links for TUFM Gene

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

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

Disorders for TUFM Gene

MalaCards: The human disease database

(1) MalaCards diseases for TUFM Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 4
  • coxpd4
- elite association - COSMIC cancer census association via MalaCards
Search TUFM in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for TUFM

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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 22 60
  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 22 60
  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 22 60
  4. 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 22 60
  5. 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 22 60

Products for TUFM Gene

Sources for TUFM Gene

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