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    TEFM transcription elongation factor, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 79736, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TEFMprovided by HGNC
    Official Full Name
    transcription elongation factor, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:26223
    See related
    Ensembl:ENSG00000172171 MIM:616422; AllianceGenome:HGNC:26223
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COXPD58; C17orf42
    Summary
    Enables DNA polymerase processivity factor activity. Involved in mitochondrial transcription and oxidative phosphorylation. Located in mitochondrial nucleoid. Part of ribonucleoprotein complex. Implicated in combined oxidative phosphorylation deficiency. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 3.5), placenta (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TEFM in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30898986..30906238, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31844695..31868444, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29226004..29233256, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29157944-29158579 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29158580-29159216 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29159217-29159851 Neighboring gene ribosomal protein S17 pseudogene 3 Neighboring gene ATPase family AAA domain containing 5 Neighboring gene RNA, U6 small nuclear 298, pseudogene Neighboring gene MPRA-validated peak2795 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29233994-29234794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29239185-29239684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8404 Neighboring gene ArfGAP with dual PH domains 2 Neighboring gene MPRA-validated peak2796 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29284865-29285364 Neighboring gene RNA, 7SL, cytoplasmic 138, pseudogene Neighboring gene ring finger protein 135

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mechanism of Transcription Anti-termination in Human Mitochondria. Hillen HS, et al. Cell, 2017 Nov 16. PMID 29033127, Free PMC Article
    2. TEFM is a potent stimulator of mitochondrial transcription elongation in vitro. Posse V, et al. Nucleic Acids Res, 2015 Mar 11. PMID 25690892, Free PMC Article
    3. Mitochondrial biology. Replication-transcription switch in human mitochondria. Agaronyan K, et al. Science, 2015 Jan 30. PMID 25635099, Free PMC Article
    4. Elevated TEFM expression promotes growth and metastasis through activation of ROS/ERK signaling in hepatocellular carcinoma. Wan L, et al. Cell Death Dis, 2021 Mar 26. PMID 33771980, Free PMC Article
    5. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Van Haute L, et al. Nat Commun, 2023 Feb 23. PMID 36823193, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
      Title: TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
    2. Elevated TEFM expression promotes growth and metastasis through activation of ROS/ERK signaling in hepatocellular carcinoma.
      Title: Elevated TEFM expression promotes growth and metastasis through activation of ROS/ERK signaling in hepatocellular carcinoma.
    3. Data provide insights into target specificity of TEFM and mechanisms by which it regulates the switch between transcription and replication of mitochondrial DNA.
      Title: Mechanism of Transcription Anti-termination in Human Mitochondria.
    4. Data indicate transcription elongation factor (TEFM) as an essential component of the mitochondrial transcription machinery.
      Title: TEFM is a potent stimulator of mitochondrial transcription elongation in vitro.
    5. study found interaction of TEFM with mitochondrial RNA polymerase and nascent transcript prevents generation of replication primers and increases transcription processivity and serves as a molecular switch between replication and transcription, which appear to be mutually exclusive processes in mitochondria
      Title: Mitochondrial biology. Replication-transcription switch in human mitochondria.
    6. The TEFM protein is proposed to be a critical component of the transcription apparatus of human mitochondria.
      Title: TEFM (c17orf42) is necessary for transcription of human mtDNA.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: RNF135 mutations are not present in patients with Sotos syndrome-like features.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 58
    MedGen: C5830641 OMIM: 620451 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22729, MGC24674

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA polymerase processivity factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA polymerase processivity factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    NOT enables crossover junction DNA endonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NOT involved_in mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in oxidative phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transcription elongation by mitochondrial RNA polymerase IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial nucleoid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    part_of ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription elongation factor, mitochondrial
    Names
    transcription elongation factor of mitochondria

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_024683.4 → NP_078959.3  transcription elongation factor, mitochondrial

      See identical proteins and their annotated locations for NP_078959.3

      Status: VALIDATED

      Source sequence(s)
      AJ314645, BQ003763, DA647699
      Consensus CDS
      CCDS42291.1
      UniProtKB/Swiss-Prot
      E1P655, Q6GPG5, Q6PJ19, Q96H04, Q96QE5, Q9H5Z9
      Related
      ENSP00000462963.1, ENST00000581216.6
      Conserved Domains (1) summary
      cl22429
      Location:77 → 119
      HHH_5; Helix-hairpin-helix domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      30898986..30906238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722084.3 → XP_006722147.1  transcription elongation factor, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      31844695..31868444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317231.1 → XP_054173206.1  transcription elongation factor, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      E1P655, Q6GPG5, Q6PJ19, Q96H04, Q96QE5, Q9H5Z9

    2. XM_054317232.1 → XP_054173207.1  transcription elongation factor, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QE5.1 GenPept UniProtKB/Swiss-Prot:Q96QE5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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