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Aliases for TEFM Gene

Aliases for TEFM Gene

  • Transcription Elongation Factor, Mitochondrial 2 3
  • C17orf42 3 4
  • Transcription Elongation Factor Of Mitochondria 3
  • Chromosome 17 Open Reading Frame 42 2

External Ids for TEFM Gene

Previous Symbols for TEFM Gene

  • C17orf42

Summaries for TEFM Gene

GeneCards Summary for TEFM Gene

TEFM (Transcription Elongation Factor, Mitochondrial) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and DNA polymerase processivity factor activity.

UniProtKB/Swiss-Prot for TEFM Gene

  • Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TEFM Gene

Genomics for TEFM Gene

Genomic Location for TEFM Gene

Start:
30,897,336 bp from pter
End:
30,906,820 bp from pter
Size:
9,485 bases
Orientation:
Minus strand

Genomic View for TEFM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TEFM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TEFM Gene

No data available for Regulatory Elements for TEFM Gene

Proteins for TEFM Gene

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

    Protein Symbol:
    Q96QE5-TEFM_HUMAN
    Recommended name:
    Transcription elongation factor, mitochondrial
    Protein Accession:
    Q96QE5
    Secondary Accessions:
    • E1P655
    • Q6GPG5
    • Q6PJ19
    • Q96H04
    • Q9H5Z9

    Protein attributes for TEFM Gene

    Size:
    360 amino acids
    Molecular mass:
    41676 Da
    Quaternary structure:
    • Interacts with POLRMT.
    SequenceCaution:
    • Sequence=AAH73169.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAB15468.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for TEFM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TEFM Gene

Proteomics data for TEFM Gene at MOPED

Post-translational modifications for TEFM Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys124, Lys137, and Lys310

Other Protein References for TEFM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TEFM Gene

Domains for TEFM Gene

Protein Domains for TEFM Gene

UniProtKB/Swiss-Prot:

TEFM_HUMAN
Family:
  • Belongs to the TEFM family.:
    • Q96QE5
genes like me logo Genes that share domains with TEFM: view

No data available for Gene Families for TEFM Gene

Function for TEFM Gene

Molecular function for TEFM Gene

UniProtKB/Swiss-Prot Function: Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery.

Gene Ontology (GO) - Molecular Function for TEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0005515 protein binding IPI 21278163
GO:0008821 NOT crossover junction endodeoxyribonuclease activity IDA 21278163
GO:0030337 DNA polymerase processivity factor activity IDA 21278163
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with TEFM: view

Phenotypes for TEFM Gene

GenomeRNAi human phenotypes for TEFM:
genes like me logo Genes that share phenotypes with TEFM: view

miRNA for TEFM Gene

miRTarBase miRNAs that target TEFM

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

Localization for TEFM Gene

Subcellular locations from UniProtKB/Swiss-Prot for TEFM Gene

Mitochondrion matrix. Mitochondrion matrix, mitochondrion nucleoid.

Gene Ontology (GO) - Cellular Components for TEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IDA 21278163
GO:0030529 ribonucleoprotein complex IDA 21278163
GO:0042645 mitochondrial nucleoid IDA 21278163
genes like me logo Genes that share ontologies with TEFM: view

Pathways for TEFM Gene

SuperPathways for TEFM Gene

No Data Available

Gene Ontology (GO) - Biological Process for TEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IMP 21278163
GO:0006259 DNA metabolic process IDA 21278163
GO:0006264 NOT mitochondrial DNA replication IMP 21278163
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006390 transcription from mitochondrial promoter IMP 21278163
genes like me logo Genes that share ontologies with TEFM: view

No data available for Pathways by source for TEFM Gene

Transcripts for TEFM Gene

Unigene Clusters for TEFM Gene

Transcription elongation factor, mitochondrial:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c
SP1: -
SP2: - -
SP3: -
SP4:

Relevant External Links for TEFM Gene

GeneLoc Exon Structure for
TEFM
ECgene alternative splicing isoforms for
TEFM

Expression for TEFM Gene

mRNA expression in normal human tissues for TEFM Gene

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

SOURCE GeneReport for Unigene cluster for TEFM Gene Hs.317340

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

Orthologs for TEFM Gene

This gene was present in the common ancestor of chordates.

Orthologs for TEFM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TEFM 36
  • 99.54 (n)
  • 99.44 (a)
TEFM 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C19H17orf42 36
  • 83.75 (n)
  • 75.77 (a)
C19H17orf42 37
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TEFM 36
  • 83.7 (n)
  • 76.11 (a)
TEFM 37
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tefm 36
  • 76.19 (n)
  • 68.51 (a)
Tefm 16
Tefm 37
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 54 (a)
OneToMany
-- 37
  • 53 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 72 (a)
OneToMany
-- 37
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tefm 36
  • 76.7 (n)
  • 69.03 (a)
lizard
(Anolis carolinensis)
Reptilia TEFM 37
  • 54 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18464 36
tropical clawed frog
(Silurana tropicalis)
Amphibia tefm 36
  • 55.67 (n)
  • 52.33 (a)
zebrafish
(Danio rerio)
Actinopterygii tefm 36
  • 55.97 (n)
  • 48.46 (a)
tefm 37
  • 43 (a)
OneToOne
Species with no ortholog for TEFM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TEFM Gene

ENSEMBL:
Gene Tree for TEFM (if available)
TreeFam:
Gene Tree for TEFM (if available)

Paralogs for TEFM Gene

No data available for Paralogs for TEFM Gene

Variants for TEFM Gene

Sequence variations from dbSNP and Humsavar for TEFM Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs2433 - 30,899,210(-) AAGCT(A/G)TTGCC reference, missense
rs2269915 -- 30,906,326(+) AGGCC(C/T)GAGGT upstream-variant-2KB, utr-variant-5-prime
rs2269916 -- 30,906,745(+) GAAAC(A/G)GGGCA upstream-variant-2KB, utr-variant-5-prime
rs3192548 -- 30,899,229(-) CTTTA(A/T)GATTC stop-gained, reference
rs7214647 -- 30,900,836(+) ctcct(A/G)atctc intron-variant

Relevant External Links for TEFM Gene

HapMap Linkage Disequilibrium report
TEFM

No data available for Structural Variations from Database of Genomic Variants (DGV) for TEFM Gene

Disorders for TEFM Gene

No disorders were found for TEFM Gene.

No data available for UniProtKB/Swiss-Prot for TEFM Gene

Publications for TEFM Gene

  1. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. (PMID: 11468690) Jenne D.E. … Kehrer-Sawatzki H. (Am. J. Hum. Genet. 2001) 2 3 4
  2. TEFM (c17orf42) is necessary for transcription of human mtDNA. (PMID: 21278163) Minczuk M. … Holt I.J. (Nucleic Acids Res. 2011) 2 3 4
  3. A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. (PMID: 10843809) Jenne D.E. … Thiel G. (Genomics 2000) 2 3
  4. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PMID: 8125298) Maruyama K. … Sugano S. (Gene 1994) 3
  5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PMID: 21890473) Wagner S.A. … Choudhary C. (Mol. Cell Proteomics 2011) 3

Products for TEFM Gene

Sources for TEFM Gene

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