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MTERF1 mitochondrial transcription termination factor 1 [ Homo sapiens (human) ]

Gene ID: 7978, updated on 3-Nov-2024

Summary

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Official Symbol
MTERF1provided by HGNC
Official Full Name
mitochondrial transcription termination factor 1provided by HGNC
Primary source
HGNC:HGNC:21463
See related
Ensembl:ENSG00000127989 MIM:602318; AllianceGenome:HGNC:21463
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
MTERF
Summary
This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in lymph node (RPKM 5.6), appendix (RPKM 4.0) and 25 other tissues See more
Orthologs
all
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Genomic context

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See MTERF1 in Genome Data Viewer
Location:
7q21.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (91870929..91880702, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93112226..93122026, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91500243..91510016, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:91285565-91286066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:91302583-91303084 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:91381695-91382196 Neighboring gene uncharacterized LOC124901696 Neighboring gene uncharacterized LOC112267986 Neighboring gene uncharacterized LOC124901698 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:91569717-91570278

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. Molecular characterization of the transcription termination factor from human mitochondria. Daga A, et al. J Biol Chem, 1993 Apr 15. PMID 7681833
  2. Human mitochondrial mTERF wraps around DNA through a left-handed superhelical tandem repeat. Jiménez-Menéndez N, et al. Nat Struct Mol Biol, 2010 Jul. PMID 20543826
  3. The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions. Fernandez-Silva P, et al. EMBO J, 1997 Mar 3. PMID 9118945, Free PMC Article
  4. Effects on mitochondrial transcription of manipulating mTERF protein levels in cultured human HEK293 cells. Hyvärinen AK, et al. BMC Mol Biol, 2010 Sep 16. PMID 20846394, Free PMC Article
  5. Mitochondrial transcription: how does it end? Byrnes J, et al. Transcription, 2011 Jan-Feb. PMID 21326908, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FAK mediates hypoxia-induced pulmonary artery smooth muscle cell proliferation by modulating mitochondrial transcription termination factor 1/cyclin D1.
    Title: FAK mediates hypoxia-induced pulmonary artery smooth muscle cell proliferation by modulating mitochondrial transcription termination factor 1/cyclin D1.
  2. MTERF1 has the ability to accommodate alternate active conformations.
    Title: Base Flipping by MTERF1 Can Accommodate Multiple Conformations and Occurs in a Stepwise Fashion.
  3. It has been demonstrated that MTERF1 arrests mitochondrial DNA (mtDNA) replication with distinct polarity whereby MTERF1 acts as a directional contra-helicase, blocking mtDNA unwinding by the mitochondrial helicase TWINKLE.
    Title: Mitochondrial transcription termination factor 1 directs polar replication fork pausing.
  4. Studies indicate that the structure of the mitochondrial transcription termination factor (MTERF1) provides insight into the mechanism of binding, recognition of the termination sequence and the conformational changes involved in mediating termination.
    Title: Mitochondrial transcription: how does it end?
  5. Single nucleotide polymorphism in MTERF gene is associated with epithelial ovarian cancer.
    Title: Inherited variants in mitochondrial biogenesis genes may influence epithelial ovarian cancer risk.
  6. data suggested that hMTERF4 is an essential factor for cell proliferation, which is probably modulated by mitochondrial transcription to promote cell proliferation
    Title: hMTERF4 knockdown in HeLa cells results in sub-G1 cell accumulation and cell death.
  7. Data show that mTERF protein levels materially affect the amount of readthrough transcription on the antisense strand of mtDNA, whilst the effects on sense-strand transcripts are complex, and suggest the influence of compensatory mechanisms.
    Title: Effects on mitochondrial transcription of manipulating mTERF protein levels in cultured human HEK293 cells.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. Presented are the crystal structures of human mitochondrial regulator MTERF, a transcription termination factor also implicated in replication pausing, in complex with double-stranded DNA oligonucleotides containing the tRNA(Leu)(UUR) gene sequence.
    Title: Human mitochondrial mTERF wraps around DNA through a left-handed superhelical tandem repeat.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction See all GeneRIFs (16)

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

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC131634

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables nucleic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA geometric change IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA-templated transcription termination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in termination of mitochondrial transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in termination of mitochondrial transcription IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
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
  

General protein information

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Preferred Names
transcription termination factor 1, mitochondrial
Names
transcription termination factor, mitochondrial

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_001301134.2 → NP_001288063.1  transcription termination factor 1, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001288063.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks part of the 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AC003086, AK222730, AL832861, BC130391, BU740531
    Consensus CDS
    CCDS75629.1
    UniProtKB/TrEMBL
    B2R952, B4DPR9
    Related
    ENSP00000414116.1, ENST00000419292.1
    Conserved Domains (1) summary
    pfam02536
    Location:56 → 369
    mTERF; mTERF

  2. NM_001301135.2 → NP_001288064.1  transcription termination factor 1, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001288064.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AC003086, AK222730, AK298469, BU740531
    Consensus CDS
    CCDS75629.1
    UniProtKB/TrEMBL
    B2R952, B4DPR9
    Related
    ENSP00000384986.2, ENST00000406735.6
    Conserved Domains (1) summary
    pfam02536
    Location:56 → 369
    mTERF; mTERF

  3. NM_006980.5 → NP_008911.1  transcription termination factor 1, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_008911.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC003086, AK222730, BC130391, BU740531
    Consensus CDS
    CCDS5621.1
    UniProtKB/Swiss-Prot
    A4D1E3, Q32NF8, Q53H51, Q99551, Q9BVR7
    UniProtKB/TrEMBL
    B2R952
    Related
    ENSP00000248643.3, ENST00000351870.8
    Conserved Domains (1) summary
    pfam02536
    Location:76 → 389
    mTERF; mTERF

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    91870929..91880702 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250593.4 → XP_005250650.1  transcription termination factor 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005250650.1

    UniProtKB/Swiss-Prot
    A4D1E3, Q32NF8, Q53H51, Q99551, Q9BVR7
    UniProtKB/TrEMBL
    B2R952
    Conserved Domains (1) summary
    pfam02536
    Location:76 → 389
    mTERF; mTERF

  2. XM_006716126.4 → XP_006716189.1  transcription termination factor 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006716189.1

    UniProtKB/Swiss-Prot
    A4D1E3, Q32NF8, Q53H51, Q99551, Q9BVR7
    UniProtKB/TrEMBL
    B2R952
    Conserved Domains (1) summary
    pfam02536
    Location:76 → 389
    mTERF; mTERF

  3. XM_047420839.1 → XP_047276795.1  transcription termination factor 1, mitochondrial isoform X2

    UniProtKB/TrEMBL
    B4DPR9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    93112226..93122026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359006.1 → XP_054214981.1  transcription termination factor 1, mitochondrial isoform X1

  2. XM_054359007.1 → XP_054214982.1  transcription termination factor 1, mitochondrial isoform X1

  3. XM_054359008.1 → XP_054214983.1  transcription termination factor 1, mitochondrial isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99551.1 GenPept UniProtKB/Swiss-Prot:Q99551

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