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Aliases for MTERF3 Gene

Aliases for MTERF3 Gene

  • Mitochondrial Transcription Termination Factor 3 2 3 4 5
  • MTERF Domain-Containing Protein 1, Mitochondrial 3 4
  • MTERF Domain Containing 1 2 3
  • MTERFD1 3 4
  • Transcription Termination Factor 3, Mitochondrial 3
  • CGI-12 3
  • MTERF3 4

External Ids for MTERF3 Gene

Previous HGNC Symbols for MTERF3 Gene

  • MTERFD1

Summaries for MTERF3 Gene

GeneCards Summary for MTERF3 Gene

MTERF3 (Mitochondrial Transcription Termination Factor 3) is a Protein Coding gene. Among its related pathways are Pink/Parkin Mediated Mitophagy and Mitochondrial Gene Expression. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding and double-stranded DNA binding.

UniProtKB/Swiss-Prot for MTERF3 Gene

  • Binds promoter DNA and regulates initiation of transcription (PubMed:17662942). Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity).

Additional gene information for MTERF3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTERF3 Gene

Genomics for MTERF3 Gene

GeneHancer (GH) Regulatory Elements for MTERF3 Gene

Promoters and enhancers for MTERF3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J096260 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 659.8 -1.2 -1171 5.3 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A MTERF3 PTDSS1 UQCRB C8orf37 GC08P096270 LOC105375652
GH08J096233 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 21.4 +26.5 26518 3.1 HDGF SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B LOC101927039 UQCRB MTERF3 PTDSS1 GC08P096183
GH08J096227 Enhancer 0.7 ENCODE 20.9 +34.3 34285 0.2 CTCF CEBPG RAD21 HIC1 ZNF366 ZNF207 ZNF143 SMC3 ZNF444 ZNF654 MTERF3 PTDSS1 GDF6 UQCRB LOC101927039 GC08P096183
GH08J096337 Enhancer 1.3 FANTOM5 Ensembl ENCODE 9.7 -77.4 -77400 3.4 PKNOX1 ATF1 FEZF1 TCF12 ZNF766 ZFP91 KLF7 FOS ATF7 ATF4 GC08P096341 PTDSS1 MTERF3 ENSG00000199732
GH08J096325 Enhancer 1.1 Ensembl ENCODE 10.5 -65.8 -65767 2.8 PKNOX1 ATF1 ARID4B SIN3A TCF12 ZNF143 ATF7 REST ZNF610 MXD3 MTERF3 PTDSS1 GC08P096341 ENSG00000199732
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTERF3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MTERF3 Gene

Genomic Locations for MTERF3 Gene
chr8:96,239,398-96,261,613
(GRCh38/hg38)
Size:
22,216 bases
Orientation:
Minus strand
chr8:97,251,626-97,273,838
(GRCh37/hg19)
Size:
22,213 bases
Orientation:
Minus strand

Genomic View for MTERF3 Gene

Genes around MTERF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTERF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTERF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTERF3 Gene

Proteins for MTERF3 Gene

  • Protein details for MTERF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E29-MTEF3_HUMAN
    Recommended name:
    Transcription termination factor 3, mitochondrial
    Protein Accession:
    Q96E29
    Secondary Accessions:
    • B3KMG6
    • G3V130
    • Q9Y301

    Protein attributes for MTERF3 Gene

    Size:
    417 amino acids
    Molecular mass:
    47971 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD27721.1; Type=Frameshift; Positions=261, 262; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTERF3 Gene

    Alternative splice isoforms for MTERF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTERF3 Gene

Post-translational modifications for MTERF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTERF3 Gene

Domains & Families for MTERF3 Gene

Gene Families for MTERF3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTERF3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTERF3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96E29

UniProtKB/Swiss-Prot:

MTEF3_HUMAN :
  • Contains seven structural repeats of about 35 residues, where each repeat contains three helices. The repeats form a superhelical structure with a solenoid shape.
  • Belongs to the mTERF family.
Domain:
  • Contains seven structural repeats of about 35 residues, where each repeat contains three helices. The repeats form a superhelical structure with a solenoid shape.
Family:
  • Belongs to the mTERF family.
genes like me logo Genes that share domains with MTERF3: view

Function for MTERF3 Gene

Molecular function for MTERF3 Gene

UniProtKB/Swiss-Prot Function:
Binds promoter DNA and regulates initiation of transcription (PubMed:17662942). Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity).

Phenotypes From GWAS Catalog for MTERF3 Gene

Gene Ontology (GO) - Molecular Function for MTERF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 double-stranded DNA binding IEA --
GO:0003727 single-stranded RNA binding IBA --
GO:0005515 protein binding IPI 25416956
GO:0019843 rRNA binding IBA --
GO:0044212 transcription regulatory region DNA binding IDA 17662942
genes like me logo Genes that share ontologies with MTERF3: view
genes like me logo Genes that share phenotypes with MTERF3: view

Animal Models for MTERF3 Gene

MGI Knock Outs for MTERF3:

Animal Model Products

CRISPR Products

miRNA for MTERF3 Gene

miRTarBase miRNAs that target MTERF3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTERF3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTERF3 Gene

Localization for MTERF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTERF3 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 MTERF3 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTERF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA 17662942
GO:0005741 mitochondrial outer membrane TAS --
genes like me logo Genes that share ontologies with MTERF3: view

Pathways & Interactions for MTERF3 Gene

genes like me logo Genes that share pathways with MTERF3: view

Pathways by source for MTERF3 Gene

1 BioSystems pathway for MTERF3 Gene
2 Reactome pathways for MTERF3 Gene

Gene Ontology (GO) - Biological Process for MTERF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006390 mitochondrial transcription IBA --
GO:0008380 RNA splicing IBA --
GO:0016236 macroautophagy TAS --
genes like me logo Genes that share ontologies with MTERF3: view

No data available for SIGNOR curated interactions for MTERF3 Gene

Drugs & Compounds for MTERF3 Gene

No Compound Related Data Available

Transcripts for MTERF3 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTERF3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTERF3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - -
SP2:
SP3:

Relevant External Links for MTERF3 Gene

GeneLoc Exon Structure for
MTERF3
ECgene alternative splicing isoforms for
MTERF3

Expression for MTERF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTERF3 Gene

Protein differential expression in normal tissues from HIPED for MTERF3 Gene

This gene is overexpressed in Lung (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTERF3 Gene



Protein tissue co-expression partners for MTERF3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTERF3 Gene:

MTERF3

mRNA Expression by UniProt/SwissProt for MTERF3 Gene:

Q96E29-MTEF3_HUMAN
Tissue specificity: Highly expressed in heart, liver, kidney and testis. Detected at lower levels in brain, spleen and lung.

Evidence on tissue expression from TISSUES for MTERF3 Gene

  • Muscle(4.2)
genes like me logo Genes that share expression patterns with MTERF3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTERF3 Gene

Orthologs for MTERF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTERF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTERFD1 34 33
  • 99.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTERFD1 34 33
  • 87.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTERFD1 34 33
  • 86.81 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mterfd1 33
  • 82.8 (n)
mouse
(Mus musculus)
Mammalia Mterfd1 34 33
  • 81.8 (n)
OneToOne
Mterf3 16
oppossum
(Monodelphis domestica)
Mammalia MTERFD1 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTERFD1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTERFD1 34 33
  • 69.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTERFD1 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mterfd1 33
  • 67.27 (n)
LOC394691 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24024 33
zebrafish
(Danio rerio)
Actinopterygii mterfd1 34 33
  • 60.85 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mTerf3 34 33
  • 48.05 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012143 33
  • 48.02 (n)
worm
(Caenorhabditis elegans)
Secernentea C50F4.12 34
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToOne
Species where no ortholog for MTERF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MTERF3 Gene

ENSEMBL:
Gene Tree for MTERF3 (if available)
TreeFam:
Gene Tree for MTERF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTERF3: view image

Paralogs for MTERF3 Gene

No data available for Paralogs for MTERF3 Gene

Variants for MTERF3 Gene

Sequence variations from dbSNP and Humsavar for MTERF3 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000291831 -- 96,260,716(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000298839 -- 96,254,205(-) A/G intron_variant
rs1000339743 -- 96,251,485(-) C/A intron_variant
rs1000392704 -- 96,258,465(-) T/C 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1000407665 -- 96,261,048(-) AAAGAAA/AAA genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MTERF3 Gene

Variant ID Type Subtype PubMed ID
esv24857 CNV loss 19812545
esv2659681 CNV deletion 23128226
nsv1020494 CNV gain 25217958
nsv6318 CNV insertion 18451855

Variation tolerance for MTERF3 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTERF3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTERF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTERF3 Gene

Disorders for MTERF3 Gene

Additional Disease Information for MTERF3

No disorders were found for MTERF3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTERF3 Gene

Publications for MTERF3 Gene

  1. MTERF3 is a negative regulator of mammalian mtDNA transcription. (PMID: 17662942) Park CB … Larsson NG (Cell 2007) 2 3 4 58
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 58
  3. A family of putative transcription termination factors shared amongst metazoans and plants. (PMID: 16193327) Linder T … Gustafsson CM (Current genetics 2005) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for MTERF3 Gene

Sources for MTERF3 Gene

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