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

Summary

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 transcription elongation factor activity. Involved in positive regulation of mitochondrial transcription and regulation of oxidative phosphorylation. Located in mitochondrial nucleoid. Part of ribonucleoprotein complex. Implicated in combined oxidative phosphorylation deficiency. [provided by Alliance of Genome Resources, Jul 2025]
Expression: Ubiquitous expression in kidney (RPKM 3.5), placenta (RPKM 3.5) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 17q11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (30898986..30906238, complement)
RS_2025_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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Title: TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NIB2009 (e-PCR)
- UniSTS:77848

RH78333 (e-PCR)
- UniSTS:7504

RH78093 (e-PCR)
- UniSTS:28283

SHGC-35907 (e-PCR)
- UniSTS:37268

RH69288 (e-PCR)
- UniSTS:20962

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
NOT enables crossover junction DNA endonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription elongation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription elongation factor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in mitochondrial DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of 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
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
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 mitochondrial nucleoid	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP 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)

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_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

30898986..30906238 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

31844695..31868444 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

E1P655, Q6GPG5, Q6PJ19, Q96H04, Q96QE5, Q9H5Z9
XM_054317232.1 → XP_054173207.1 transcription elongation factor, mitochondrial isoform X1