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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

No data available for 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
GH16F028844 0.6 ENCODE 79.5 +0.3 309 3.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 TUFM ENSG00000260853 SMG1P2 MIR4517 ENSG00000260367 NUPR1 RPS15AP33 RRN3P2 CDC37P1 MIR4721
GH16F028821 0.6 ENCODE 79.4 +22.4 22380 4.4 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TUFM SMG1P2 ENSG00000260853 MIR4517 CA5AP1 SGF29 ENSG00000260367 CDC37P1 NPIPB9 NPIPB11
GH16F028882 0.2 ENCODE 59.1 -36.7 -36721 2.2 BCOR GATAD2A SCRT1 CTCF ZNF362 ZMYM3 RARA ZNF664 ZNF121 SCRT2 TUFM CD19 RABEP2 MIR4517 NFATC2IP ENSG00000271623 ENSG00000252461 GC16M028787 GC16M028881
GH16F028861 0.8 ENCODE 59 -18.1 -18110 5.6 HDGF ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF207 TUFM ENSG00000260853 MIR4517 SMG1P2 ENSG00000260367 SULT1A2 EIF3CL ENSG00000261766 SGF29 NUPR1
GH16F028874 0.9 Ensembl ENCODE 59 -31.4 -31403 6.4 ATF1 CREB3L1 SIN3A FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF143 KLF7 TUFM CD19 RABEP2 MIR4517 NFATC2IP CDC37P1 ATP2A1 ENSG00000261766
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000051700 -89 2401 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143

Genomic Location for TUFM Gene

Chromosome:
16
Start:
28,842,411 bp from pter
End:
28,846,511 bp from pter
Size:
4,101 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:
    No Data Available
    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 Lys 88 and Lys 311
  • 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

Suggested Antigen Peptide Sequences for TUFM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49411

UniProtKB/Swiss-Prot:

EFTU_HUMAN :
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.
Domain:
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
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

No data available for Gene Families for TUFM Gene

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.

Gene Ontology (GO) - Molecular Function for TUFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 translation elongation factor activity IDA 9332382
GO:0003924 GTPase activity IBA --
GO:0005515 protein binding IPI 11741979
GO:0005525 GTP binding IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
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

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for TUFM Gene COMPARTMENTS Subcellular localization image for TUFM gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for TUFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IEA,IDA 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 --
GO:0070125 mitochondrial translational elongation IBA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
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:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
TUFM

Expression for TUFM Gene

mRNA expression in normal human tissues 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:

TUFM

SOURCE GeneReport for Unigene cluster for TUFM Gene:

Hs.12084
genes like me logo Genes that share expression patterns with TUFM: view

Primer Products

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 34 35
  • 99.41 (n)
mouse
(Mus musculus)
Mammalia Gm9755 35
  • 93 (a)
OneToMany
Tufm 34 16 35
  • 87.73 (n)
cow
(Bos Taurus)
Mammalia TUFM 34 35
  • 89.36 (n)
dog
(Canis familiaris)
Mammalia TUFM 34 35
  • 88.4 (n)
rat
(Rattus norvegicus)
Mammalia Tufm 34
  • 87.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TUFM 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUFM 35
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TUFM 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394927 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5961 34
zebrafish
(Danio rerio)
Actinopterygii tufm 34 35
  • 69.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta EfTuM 36 34 35
  • 68.84 (n)
CG12736 36
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006996 34
  • 66.92 (n)
worm
(Caenorhabditis elegans)
Secernentea tufm-1 34
  • 58.33 (n)
Y71H2AM.23 36
  • 55 (a)
C43E11.4 36
  • 45 (a)
tufm-2 35
  • 42 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05214g 34
  • 61.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR143W 34
  • 61.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUF1 34 35 37
  • 59.23 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02930 34
  • 58.91 (n)
soybean
(Glycine max)
eudicotyledons Gma.14977 34
rice
(Oryza sativa)
Liliopsida Os03g0851100 34
  • 60.48 (n)
Os.10987 34
barley
(Hordeum vulgare)
Liliopsida Hv.2494 34
wheat
(Triticum aestivum)
Liliopsida Ta.27962 34
corn
(Zea mays)
Liliopsida Zm.537 34
bread mold
(Neurospora crassa)
Ascomycetes NCU03737 34
  • 61.97 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tuf1 34
  • 58.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.888 35
  • 50 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11098 34
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)

Paralogs for TUFM Gene

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 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]
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
rs114590091 Likely benign 28,843,810(+) GGACA(C/T)AAAGG downstream-variant-500B, reference, missense
rs863224245 Likely benign 28,846,250(-) GGCCG(C/T)CACCC upstream-variant-2KB, reference, missense

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)

Relevant External Links for TUFM Gene

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

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: 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

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.

Relevant External Links for TUFM

Genetic Association Database (GAD)
TUFM
Human Genome Epidemiology (HuGE) Navigator
TUFM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUFM
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 B.H. (Gene 1997) 2 3 4 22 64
  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. (Am. J. Hum. Genet. 2007) 3 4 22 64
  3. Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. (PMID: 9545647) Shah Z.H. … Jacobs H.T. (Genomics 1998) 2 3 22 64
  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 Lett. 1995) 3 4 22 64
  5. Cloning, sequence analysis and expression of mammalian mitochondrial protein synthesis elongation factor Tu. (PMID: 8547323) Woriax V.L. … Spremulli L.L. (Biochim. Biophys. Acta 1995) 3 4 22 64

Products for TUFM Gene

Sources for TUFM Gene

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