Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TUFM Gene

Aliases for TUFM Gene

  • Tu Translation Elongation Factor, Mitochondrial 2 3
  • COXPD4 3 6
  • EF-Tu 3 4
  • EFTU 3 6
  • P43 3 4
  • Elongation Factor Tu, Mitochondrial 3
  • EF-TuMT 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. GO annotations related to this gene include GTP binding and translation elongation factor 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

Genomic Location for TUFM Gene

Start:
28,842,411 bp from pter
End:
28,846,408 bp from pter
Size:
3,998 bases
Orientation:
Minus strand

Genomic View for TUFM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    NP_003312.3
    Recommended name:
    Protein Accession:
    NP_003312.3
    Secondary Accessions:

    Protein attributes for TUFM Gene

    Size:
    amino acids
    Molecular mass:
    Da
    Quaternary structure:
    No Data Available
  • 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

Proteomics data for TUFM Gene at MOPED

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:

No data available for DME Specific Peptides for TUFM Gene

Domains 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 :
  • P49411
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 IEA --
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

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

Localization for TUFM Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUFM Gene

Mitochondrion.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for TUFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005739 mitochondrion IDA --
GO:0016020 membrane IDA 19946888
GO:0042645 mitochondrial nucleoid IDA 18063578
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with TUFM: view

Pathways for TUFM Gene

SuperPathways for TUFM Gene

No Data Available

Gene Ontology (GO) - Biological Process for TUFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0006414 translational elongation IDA 9332382
GO:0006996 organelle organization TAS --
GO:0032543 mitochondrial translation TAS --
GO:0070125 mitochondrial translational elongation TAS --
genes like me logo Genes that share ontologies with TUFM: view

No data available for Pathways by source for TUFM Gene

Compounds for TUFM Gene

(4) HMDB Compounds for TUFM Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine triphosphate
  • 5'-GTP
86-01-1
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(1) Drugbank Compounds for TUFM Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Guanosine-5'-Diphosphate
146-91-8 target

(7) Novoseek inferred chemical compound relationships for TUFM Gene

Compound -log(P) Hits PubMed IDs
aminoacyl-trna 81.6 3
gdp 52.7 2
trna 48.1 1
gtp 46.5 2
glycerol 17.6 4
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUFM Gene

SOURCE GeneReport for Unigene cluster for TUFM Gene Hs.12084

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

No data available for mRNA 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 35
  • 99.41 (n)
  • 100 (a)
TUFM 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUFM 35
  • 89.36 (n)
  • 94.68 (a)
TUFM 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUFM 35
  • 88.4 (n)
  • 94.01 (a)
TUFM 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm9755 36
  • 93 (a)
OneToMany
Tufm 35
  • 87.73 (n)
  • 93.79 (a)
Tufm 16
Tufm 36
  • 94 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TUFM 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUFM 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tufm 35
  • 87.51 (n)
  • 94.01 (a)
lizard
(Anolis carolinensis)
Reptilia TUFM 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5961 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394927 35
zebrafish
(Danio rerio)
Actinopterygii tufm 35
  • 69.1 (n)
  • 76.16 (a)
tufm 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006996 35
  • 66.92 (n)
  • 67.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta EfTuM 35
  • 68.84 (n)
  • 67.42 (a)
EfTuM 36
  • 55 (a)
OneToOne
CG12736 37
  • 51 (a)
EfTuM 37
  • 71 (a)
worm
(Caenorhabditis elegans)
Secernentea tufm-1 35
  • 58.33 (n)
  • 58.09 (a)
tufm-2 36
  • 42 (a)
ManyToMany
Y71H2AM.23 37
  • 55 (a)
C43E11.4 37
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR143W 35
  • 61.58 (n)
  • 60.31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUF1 35
  • 59.23 (n)
  • 62.82 (a)
TUF1 36
  • 56 (a)
OneToMany
TUF1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05214g 35
  • 61.62 (n)
  • 62.31 (a)
soybean
(Glycine max)
eudicotyledons Gma.14977 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02930 35
  • 58.91 (n)
  • 57.29 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2494 35
corn
(Zea mays)
Liliopsida Zm.537 35
rice
(Oryza sativa)
Liliopsida Os.10987 35
Os03g0851100 35
  • 60.48 (n)
  • 57.89 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.27962 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03737 35
  • 61.97 (n)
  • 56.67 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tuf1 35
  • 58.5 (n)
  • 59.18 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11098 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.888 36
  • 50 (a)
ManyToMany
Species with no ortholog for TUFM:
  • 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 MAF
rs8754 -- 28,842,951(-) AGCTT(C/T)CCTTG utr-variant-3-prime
rs3088215 -- 28,842,675(+) GATTT(A/C)TCCGT utr-variant-3-prime
rs11860827 -- 28,842,218(+) GAAAA(C/T)TGCCA downstream-variant-500B
rs13332038 -- 28,842,258(+) gtcat(C/T)ggcta downstream-variant-500B
rs34774546 -- 28,843,353(+) GATGA(-/GT)GTTCC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv842e1 CNV Complex 17122850
nsv905698 CNV Gain 21882294
nsv905700 CNV Loss 21882294
nsv905701 CNV Loss 21882294
nsv905702 CNV Gain+Loss 21882294
nsv518648 CNV Loss 19592680
nsv519100 CNV Gain 19592680

Relevant External Links for TUFM Gene

HapMap Linkage Disequilibrium report
TUFM
Human Gene Mutation Database (HGMD)
TUFM

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

Disorders for TUFM Gene

(1) OMIM Diseases for TUFM Gene (602389)

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

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 23
  2. 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 23
  3. 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 23
  4. 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 23
  5. 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 23

Products for TUFM Gene

Sources for TUFM Gene

Back to Top

Content