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TEFM - transcription elongation factor, mitochondrial Gene

Also Known as C17orf42

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79736

About TEFM

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,898,986-30,906,238 (from NCBI)

This gene has 5 transcripts (splice variants) and 190 orthologues. Ubiquitous expression in kidney (RPKM 3.5), placenta (RPKM 3.5) and 25 other tissues.

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]

TEFM Products (1)

mRNA	Protein	Name
NM_024683.4	NP_078959.3	transcription elongation factor, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA polymerase processivity factor activity	IDA IDA: Inferred from direct assay	21278163	GOA
NOT enables crossover junction DNA endonuclease activity	IDA IDA: Inferred from direct assay	21278163	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21278163	GOA

Biological Process GO Annotation	Evidence	References	Source
NOT involved in mitochondrial DNA replication	IMP IMP: Inferred from mutant phenotype	21278163	GOA
involved in mitochondrial transcription	IMP IMP: Inferred from mutant phenotype	21278163	GOA
involved in oxidative phosphorylation	IMP IMP: Inferred from mutant phenotype	21278163	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	21278163	GOA
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	21278163	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	21278163	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TEFM Protein Structure

HHH_3

0
100
200
300
360 a.a.

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

TEFM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TEFM	Q96QE5	POLRMT	Homo sapiens	O00411	BN-PAGE	21278163
Intra	TEFM	Q96QE5	POLRMT	Homo sapiens	O00411	Pull Down	21278163

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Dna Depletion Syndrome 8a	Mitochondrial Dna Depletion Syndrome 8b MTDPS8A Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related Rrm2b-Related Mitochondrial Dna Depletion Syndrome Encephalomyopathic Type With Renal Tubulopathy Rrm2b-Mds Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive MTDPS8B Mitochondrial Dna Depletion Syndrome 8b Mngie Type Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related Mngie Rrm2b-Related Visceral Myopathy Familial External Ophthalmoplegia Mitochondrial Dna Depletion Syndrome, Type 8a
Mitochondrial Dna Depletion Syndrome 14	MTDPS14 Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type Mitochondrial Dna Depletion Syndrome, Type 14
Mitochondrial Dna Depletion Syndrome 11	MTDPS11 Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency Peo-Myopathy-Emaciation Syndrome Mtdna Maintenance Syndrome Due To Mgme1 Deficiency Mitochondrial Dna Depletion Syndrome, Type 11
Seckel Syndrome 8	SCKL8 Seckel Syndrome, Type 8
Mitochondrial Dna Depletion Syndrome 1	MTDPS1 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related Myoneurogastrointestinal Encephalopathy Syndrome Polip Syndrome Mitochondrial Dna Depletion Syndrome, Type 1 Mngie, Tymp-Related Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction Mitochondrial Dna Depletion Syndrome 1, Mngie Type Mitochondrial Neurogastrointestinal Encephalomyopathy Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related Myoneurogastrointestinal Encephalomyopathy Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Cardiomyopathy, Infantile Hypertrophic	Infantile Hypertrophic Cardiomyopathy CMHI
Chromosome 17q11.2 Deletion Syndrome	Nf1 Microdeletion Syndrome 17q11 Microdeletion Syndrome Neurofibromatosis Type 1 Microdeletion Syndrome Van Asperen Syndrome Del(17)(Q11) Monosomy 17q11 Chromosome 17q11.2 Deletion Syndrome, 1.4mb
Mitochondrial Dna Depletion Syndrome 4b	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Mngie Syndrome Thymidine Phosphorylase Deficiency MTDPS4B Mitochondrial Neurogastrointestinal Encephalopathy Disease Mngie Myoneurogastrointestinal Encephalopathy Syndrome Ogimd Oculogastrointestinal Muscular Dystrophy Polip Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related Mngie, Polg-Related Mepop Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction Mngie Disease Mitochondrial Dna Depletion Syndrome 4b Mngie Type Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related Mngie Polg-Related Mitochondrial Dna Depletion Syndrome, Type 4b Visceral Myopathy Familial External Ophthalmoplegia
Mitochondrial Dna Depletion Syndrome 2	Mitochondrial Dna Depletion Syndrome, Myopathic Form MTDPS2 Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy, Tk2-Related Tk2-Related Mitochondrial Dna Depletion Myopathy Mtdna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy Tk2-Related Mitochondrial Dna Depletion Syndrome 2 Myopathic Type Myopathic Mitochondrial Dna Depletion Syndrome Mitochondrial Dna Depletion Syndrome, Type 2
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Peripheral Neuropathy And Optic Atrophy Cmt6 Charcot-Marie-Tooth Disease Type 6 Hmsn Vi HMSN6A Hmsn Via Hmsn6 Cmt6a Charcot-Marie-Tooth Disease, Type 6 Hereditary Motor And Sensory Neuropathy Type 6 Hereditary Motor And Sensory Neuropathy Type Vi Neuropathy, Hereditary Motor And Sensory, Type 6a Neuropathy, Hereditary Motor And Sensory, Type Vi Charcot-Marie-Tooth Disease, Type 6a Hereditary Motor And Sensory Neuropathy Via Hmsn 6 Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy Charcot-Marie-Tooth Disease 6 Charcot-Marie-Tooth Disease 6a Hereditary Motor And Sensory Neuropathy Type Via Hereditary Motor And Sensory Neuropathy Vi

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14354	TEFM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TEFM	VGNC	VGNC:50118
Macaca mulatta	TEFM	VGNC	VGNC:104664
Canis familiaris	TEFM	VGNC	VGNC:47240
Rattus norvegicus	TEFM	RGD	RGD:1306595
Mus musculus	TEFM	MGD	MGI:1915800
Felis catus	TEFM	VGNC	VGNC:66063
Others	TEFM	NCBI