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MTERF3 mitochondrial transcription termination factor 3 [ Homo sapiens (human) ]

Gene ID: 51001, updated on 14-Nov-2024

Summary

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Official Symbol
MTERF3provided by HGNC
Official Full Name
mitochondrial transcription termination factor 3provided by HGNC
Primary source
HGNC:HGNC:24258
See related
Ensembl:ENSG00000156469 MIM:616930; AllianceGenome:HGNC:24258
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
CGI-12; MTERFD1
Summary
Enables transcription cis-regulatory region binding activity. Involved in negative regulation of DNA-templated transcription. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 7.1), appendix (RPKM 6.9) and 25 other tissues See more
Orthologs
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Genomic context

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See MTERF3 in Genome Data Viewer
Location:
8q22.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (96239398..96261613, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (97364733..97387331, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (97251626..97273841, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901984 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:97224174-97224416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27659 Neighboring gene ubiquinol-cytochrome c reductase binding protein Neighboring gene UQCRB antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97272591-97273284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27660 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:97273659-97273983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97273978-97274670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27661 Neighboring gene uncharacterized LOC105375652 Neighboring gene Sharpr-MPRA regulatory region 10382 Neighboring gene phosphatidylserine synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27664 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:97339509-97340044 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:97340045-97340580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97351756-97352256 Neighboring gene uncharacterized LOC102724804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:97388962-97389724

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Suppressing MTERF3 inhibits proliferation of human hepatocellular carcinoma via ROS-mediated p38 MAPK activation.
    Title: Suppressing MTERF3 inhibits proliferation of human hepatocellular carcinoma via ROS-mediated p38 MAPK activation.
  2. These results demonstrated that MTERFD1 played an oncogenic role in colorectal (CRC) development and enhanced irradiation resistance by regulating IL-6 and IL-11 in CRC cells. MTERFD1 may serve as a potential prognostic and therapeutic marker for radiotherapy in CRC.
    Title: MTERFD1 promotes cell growth and irradiation resistance in colorectal cancer by upregulating interleukin-6 and interleukin-11.
  3. MTERFD1 and MTERFD3 have a role in impairing the completion of mitochondrial DNA replication
    Title: Overexpression of MTERFD1 or MTERFD3 impairs the completion of mitochondrial DNA replication.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

EBI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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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Homology

Clone Names

  • FLJ10939

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial ribosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transcription termination factor 3, mitochondrial
Names
MTERF domain containing 1
mTERF domain-containing protein 1, 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_001286643.1 → NP_001273572.1  transcription termination factor 3, mitochondrial isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK309002, HY116693
    Consensus CDS
    CCDS75772.1
    UniProtKB/TrEMBL
    E5RIK9
    Related
    ENSP00000429400.1, ENST00000523821.5
    Conserved Domains (1) summary
    cl19765
    Location:159 → 355
    mTERF; mTERF

  2. NM_001362964.1 → NP_001349893.1  transcription termination factor 3, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AK309002, BC012995, HY116693, HY158862
    Conserved Domains (1) summary
    cl19765
    Location:1 → 176
    mTERF

  3. NM_015942.5 → NP_057026.3  transcription termination factor 3, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_057026.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AK309002, BC012995, HY116693
    Consensus CDS
    CCDS6270.1
    UniProtKB/Swiss-Prot
    B3KMG6, G3V130, Q96E29, Q9Y301
    Related
    ENSP00000287025.3, ENST00000287025.4
    Conserved Domains (1) summary
    cl19765
    Location:159 → 398
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    96239398..96261613 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517054.3 → XP_011515356.1  transcription termination factor 3, mitochondrial isoform X1

    Related
    ENSP00000430138.1, ENST00000522822.5
    Conserved Domains (1) summary
    cl19765
    Location:46 → 253
    mTERF; mTERF

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    97364733..97387331 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360535.1 → XP_054216510.1  transcription termination factor 3, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96E29.2 GenPept UniProtKB/Swiss-Prot:Q96E29

Gene LinkOut

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