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Aliases for MTERF1 Gene

Aliases for MTERF1 Gene

  • Mitochondrial Transcription Termination Factor 1 2 3 4 5
  • MTERF 3 4
  • Transcription Termination Factor 1, Mitochondrial 3
  • Transcription Termination Factor, Mitochondrial 3
  • Mitochondrial Transcription Termination Factor 2
  • MTERF1 4

External Ids for MTERF1 Gene

Previous HGNC Symbols for MTERF1 Gene

  • MTERF

Summaries for MTERF1 Gene

Entrez Gene Summary for MTERF1 Gene

  • 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]

GeneCards Summary for MTERF1 Gene

MTERF1 (Mitochondrial Transcription Termination Factor 1) is a Protein Coding gene. Diseases associated with MTERF1 include Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes. Among its related pathways are Mitochondrial Gene Expression and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and double-stranded DNA binding. An important paralog of this gene is MTERF2.

UniProtKB/Swiss-Prot for MTERF1 Gene

  • Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand.

Gene Wiki entry for MTERF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTERF1 Gene

Genomics for MTERF1 Gene

Regulatory Elements for MTERF1 Gene

Enhancers for MTERF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G092829 2 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -953.5 -953464 9.6 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 MEF2D ZNF610 GLIS1 FAM133B GATAD1 ENSG00000243107 CDK6 MTERF1 SAMD9 LOC101927497 GC07M092702 RNU6-10P
GH07G091945 1.1 Ensembl ENCODE 11.1 -65.4 -65363 2.1 HDAC1 PKNOX1 FOXA2 ZSCAN9 RARA ZNF121 RELB IKZF2 CEBPB PBX2 CYP51A1 MTERF1 ANKIB1 GC07M091897 GC07P091998
GH07G091826 0.6 FANTOM5 11.3 +53.9 53927 0.2 OSR2 ZNF680 ZNF692 FEZF1 ZNF843 ZNF623 MTERF1 GC07P091818
GH07G091949 0.6 ENCODE 11.1 -68.9 -68913 0.7 SCRT1 JUNB FOSL1 ZFP69B JUND ZNF316 ZNF692 SCRT2 ZSCAN5C CYP51A1 MTERF1 GC07M091897 GC07P091998
GH07G091850 0.5 ENCODE 12.5 +30.1 30069 0.2 JUND JUN ZNF26 FOS RFX5 GATAD1 ENSG00000243107 MTERF1 FAM133B AKAP9 GC07P091818
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTERF1 on UCSC Golden Path with GeneCards custom track

Promoters for MTERF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215055 120 1601 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for MTERF1 Gene

Chromosome:
7
Start:
91,692,008 bp from pter
End:
91,880,720 bp from pter
Size:
188,713 bases
Orientation:
Minus strand

Genomic View for MTERF1 Gene

Genes around MTERF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTERF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTERF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTERF1 Gene

Proteins for MTERF1 Gene

  • Protein details for MTERF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99551-MTEF1_HUMAN
    Recommended name:
    Transcription termination factor 1, mitochondrial
    Protein Accession:
    Q99551
    Secondary Accessions:
    • A4D1E3
    • Q32NF8
    • Q53H51
    • Q9BVR7

    Protein attributes for MTERF1 Gene

    Size:
    399 amino acids
    Molecular mass:
    45778 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for MTERF1 Gene

neXtProt entry for MTERF1 Gene

Post-translational modifications for MTERF1 Gene

  • Phosphoprotein with mostly four phosphate groups. While the DNA-binding activity is unaffected by the phosphorylation state, only the phosphorylated form of the protein is active for termination activity. Functioning seems to be regulated by phosphorylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTERF1 Gene

Domains & Families for MTERF1 Gene

Protein Domains for MTERF1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q99551

UniProtKB/Swiss-Prot:

MTEF1_HUMAN :
  • Contains nine structural repeats of about 35 residues, where each repeat contains three helices. The repeats form a left-handed superhelical assembly with a solenoid structure that wraps itself around DNA.
  • Belongs to the mTERF family.
Domain:
  • Contains nine structural repeats of about 35 residues, where each repeat contains three helices. The repeats form a left-handed superhelical assembly with a solenoid structure that wraps itself around DNA.
Family:
  • Belongs to the mTERF family.
genes like me logo Genes that share domains with MTERF1: view

No data available for Gene Families for MTERF1 Gene

Function for MTERF1 Gene

Molecular function for MTERF1 Gene

UniProtKB/Swiss-Prot Function:
Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand.

Gene Ontology (GO) - Molecular Function for MTERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 double-stranded DNA binding IEA,IDA 20550934
GO:0003723 RNA binding IDA 22681889
GO:0005515 protein binding IPI 20195357
genes like me logo Genes that share ontologies with MTERF1: view
genes like me logo Genes that share phenotypes with MTERF1: view

Animal Models for MTERF1 Gene

MGI Knock Outs for MTERF1:

Animal Model Products

miRNA for MTERF1 Gene

miRTarBase miRNAs that target MTERF1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTERF1 Gene

Localization for MTERF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTERF1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTERF1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
peroxisome 2
nucleus 2

Gene Ontology (GO) - Cellular Components for MTERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with MTERF1: view

Pathways & Interactions for MTERF1 Gene

genes like me logo Genes that share pathways with MTERF1: view

Gene Ontology (GO) - Biological Process for MTERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006353 DNA-templated transcription, termination IDA,TAS 20550934
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006393 termination of mitochondrial transcription TAS --
GO:0007005 mitochondrion organization TAS --
genes like me logo Genes that share ontologies with MTERF1: view

No data available for SIGNOR curated interactions for MTERF1 Gene

Drugs & Compounds for MTERF1 Gene

(1) Drugs for MTERF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MTERF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MTERF1: view

Transcripts for MTERF1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTERF1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c
SP1: - - - - -
SP2: -
SP3: - - - - - -
SP4: - - - - -
SP5:

Relevant External Links for MTERF1 Gene

GeneLoc Exon Structure for
MTERF1
ECgene alternative splicing isoforms for
MTERF1

Expression for MTERF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTERF1 Gene

Protein differential expression in normal tissues from HIPED for MTERF1 Gene

This gene is overexpressed in Lung (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTERF1 Gene



Protein tissue co-expression partners for MTERF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTERF1 Gene:

MTERF1

Evidence on tissue expression from TISSUES for MTERF1 Gene

  • Intestine(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MTERF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTERF1 Gene

Orthologs for MTERF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MTERF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTERF 34 35
  • 99.25 (n)
cow
(Bos Taurus)
Mammalia MTERF 34 35
  • 87.65 (n)
dog
(Canis familiaris)
Mammalia MTERF 34 35
  • 86.87 (n)
mouse
(Mus musculus)
Mammalia Mterf1b 34 16
  • 81.91 (n)
Gm9897 35
  • 75 (a)
OneToMany
Mterf 35
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MTERF 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTERF 35
  • 45 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15029 34
zebrafish
(Danio rerio)
Actinopterygii LOC100536997 34
  • 51.66 (n)
MTERF 35
  • 43 (a)
OneToOne
Species where no ortholog for MTERF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTERF1 Gene

ENSEMBL:
Gene Tree for MTERF1 (if available)
TreeFam:
Gene Tree for MTERF1 (if available)

Paralogs for MTERF1 Gene

Paralogs for MTERF1 Gene

Pseudogenes.org Pseudogenes for MTERF1 Gene

genes like me logo Genes that share paralogs with MTERF1: view

Variants for MTERF1 Gene

Sequence variations from dbSNP and Humsavar for MTERF1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000064176 -- 91,876,291(+) CCTGA(A/G)TCATA intron-variant
rs1000459749 -- 91,876,591(+) CTACA(A/G)GCAGG intron-variant
rs1000647958 -- 91,878,969(+) GAAAC(C/T)CCATC intron-variant
rs1000672089 -- 91,882,327(+) GCACC(C/G)GGCGT upstream-variant-2KB
rs1000712445 -- 91,877,587(+) AATCA(A/C/T)GTAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTERF1 Gene

Variant ID Type Subtype PubMed ID
esv3614130 CNV loss 21293372
nsv1021101 CNV gain 25217958

Variation tolerance for MTERF1 Gene

Residual Variation Intolerance Score: 81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTERF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTERF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTERF1 Gene

Disorders for MTERF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MTERF1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MTERF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTERF1
genes like me logo Genes that share disorders with MTERF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTERF1 Gene

Publications for MTERF1 Gene

  1. The human mitochondrial transcription termination factor (mTERF) is fully active in vitro in the non-phosphorylated form. (PMID: 15899902) Asin-Cayuela J. … Gustafsson C.M. (J. Biol. Chem. 2005) 2 3 22 64
  2. 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. (PMID: 9118945) Fernandez-Silva P. … Attardi G. (EMBO J. 1997) 3 4 22 64
  3. Training response of mitochondrial transcription factors in human skeletal muscle. (PMID: 19681768) Norrbom J. … Sundberg C.J. (Acta Physiol (Oxf) 2010) 3 22 64
  4. Human mitochondrial mTERF wraps around DNA through a left-handed superhelical tandem repeat. (PMID: 20543826) Jimenez-Menendez N. … Sola M. (Nat. Struct. Mol. Biol. 2010) 3 4 64
  5. Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. (PMID: 20550934) Yakubovskaya E. … Garcia-Diaz M. (Cell 2010) 3 4 64

Products for MTERF1 Gene

Sources for MTERF1 Gene

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