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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

    Gene LinkOut

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

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