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

Gene ID: 79736, updated on 5-Mar-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. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 3.5), placenta (RPKM 3.5) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30898986..30906238, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31844695..31868444, complement)
105.20220307 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
  • 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. 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
  2. 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
  3. Mechanism of Transcription Anti-termination in Human Mitochondria. Hillen HS, et al. Cell, 2017 Nov 16. PMID 29033127, Free PMC Article
  4. 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
  5. Mitochondrial biology. Replication-transcription switch in human mitochondria. Agaronyan K, et al. Science, 2015 Jan 30. PMID 25635099, Free PMC Article

See all (40) 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 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_2023_10

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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