This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009] See more...

Aliases for MTIF3 Gene

Aliases for MTIF3 Gene

  • Mitochondrial Translational Initiation Factor 3 2 3 5
  • Translation Initiation Factor IF-3, Mitochondrial 3 4
  • IF-3(Mt) 3 4
  • IF3(Mt) 2 4
  • IF3mt 3 4
  • IF-3mt 2
  • IF-3Mt 4
  • MTIF3 5

External Ids for MTIF3 Gene

Previous GeneCards Identifiers for MTIF3 Gene

  • GC13M025989
  • GC13M021988
  • GC13M026938
  • GC13M025807
  • GC13M026907
  • GC13M028009
  • GC13M008831

Summaries for MTIF3 Gene

Entrez Gene Summary for MTIF3 Gene

  • This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009]

GeneCards Summary for MTIF3 Gene

MTIF3 (Mitochondrial Translational Initiation Factor 3) is a Protein Coding gene. Diseases associated with MTIF3 include Hallucinogen Abuse. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include translation initiation factor activity and ribosomal small subunit binding.

UniProtKB/Swiss-Prot Summary for MTIF3 Gene

  • IF-3 binds to the 28S ribosomal subunit and shifts the equilibrum between 55S ribosomes and their 39S and 28S subunits in favor of the free subunits, thus enhancing the availability of 28S subunits on which protein synthesis initiation begins.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTIF3 Gene

Genomics for MTIF3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTIF3 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
GH13J027444 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 273.8 +2.7 2664 8.1 SP1 ZNF207 MYC ZNF600 ZMYM3 ATF2 KLF9 CEBPA POLR2A ATF3 MTIF3 GTF3A lnc-LNX2-2 lnc-GTF3A-4 piR-43872 lnc-MTIF3-2
GH13J027423 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.5 +24.2 24208 5.8 ZNF207 MYC NCOR1 ZNF600 IKZF1 JUND ZNF592 POLR2A ATF3 NFIC GTF3A MTIF3 HSALNG0095943 lnc-MTIF3-2
GH13J027440 Promoter/Enhancer 0.9 Ensembl ENCODE dbSUPER 22.2 +8.9 8932 3.5 CTBP1 ZNF189 ZBTB33 PKNOX1 MTIF3 RNU6-63P GTF3A lnc-GTF3A-4 lnc-LNX2-2 lnc-MTIF3-2
GH13J027402 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 15.4 +46.4 46389 4.6 ZNF654 YY1 REST TRIM22 FEZF1 CTCF FOXA2 KDM6A RXRA SAP130 HSALNG0095942 RF00019-024 RNY1P1 MTIF3 RNU6-63P GTF3A RASL11A
GH13J027466 Enhancer 0.6 Ensembl 26.7 -15.9 -15904 1.2 FEZF1 ZNF217 CTBP1 GATA3 NFIB GATA2 EGR2 RAD21 ZFHX2 CTCF MTIF3 RNU6-63P GTF3A lnc-MTIF3-1 lnc-GTF3A-3 POLR1D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTIF3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTIF3

Genomic Locations for MTIF3 Gene

Latest Assembly
chr13:27,435,639-27,450,897
(GRCh38/hg38)
Size:
15,259 bases
Orientation:
Minus strand

Previous Assembly
chr13:28,009,780-28,024,701
(GRCh37/hg19 by Entrez Gene)
Size:
14,922 bases
Orientation:
Minus strand

chr13:28,009,776-28,024,739
(GRCh37/hg19 by Ensembl)
Size:
14,964 bases
Orientation:
Minus strand

Genomic View for MTIF3 Gene

Genes around MTIF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTIF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTIF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTIF3 Gene

Proteins for MTIF3 Gene

  • Protein details for MTIF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2K0-IF3M_HUMAN
    Recommended name:
    Translation initiation factor IF-3, mitochondrial
    Protein Accession:
    Q9H2K0
    Secondary Accessions:
    • Q05BL8
    • Q5W0V0
    • Q86X68

    Protein attributes for MTIF3 Gene

    Size:
    278 amino acids
    Molecular mass:
    31725 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH39599.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTIF3 Gene

neXtProt entry for MTIF3 Gene

Post-translational modifications for MTIF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTIF3 Gene

Domains & Families for MTIF3 Gene

Gene Families for MTIF3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTIF3 Gene

Suggested Antigen Peptide Sequences for MTIF3 Gene

GenScript: Design optimal peptide antigens:
  • Translation initiation factor IF-3, mitochondrial (IF3M_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H2K0

UniProtKB/Swiss-Prot:

IF3M_HUMAN :
  • Belongs to the IF-3 family.
Family:
  • Belongs to the IF-3 family.
genes like me logo Genes that share domains with MTIF3: view

Function for MTIF3 Gene

Molecular function for MTIF3 Gene

UniProtKB/Swiss-Prot Function:
IF-3 binds to the 28S ribosomal subunit and shifts the equilibrum between 55S ribosomes and their 39S and 28S subunits in favor of the free subunits, thus enhancing the availability of 28S subunits on which protein synthesis initiation begins.

Phenotypes From GWAS Catalog for MTIF3 Gene

Gene Ontology (GO) - Molecular Function for MTIF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003743 translation initiation factor activity IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0008135 translation factor activity, RNA binding IDA 12095986
GO:0043022 ribosome binding IBA 21873635
GO:0043024 ribosomal small subunit binding IDA 12095986
genes like me logo Genes that share ontologies with MTIF3: view
genes like me logo Genes that share phenotypes with MTIF3: view

Animal Models for MTIF3 Gene

MGI Knock Outs for MTIF3:
  • Mtif3 Mtif3<tm1b(EUCOMM)Wtsi>

miRNA for MTIF3 Gene

miRTarBase miRNAs that target MTIF3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTIF3

Clone products for research

  • Addgene plasmids for MTIF3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTIF3 Gene

Localization for MTIF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTIF3 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 MTIF3 gene
Compartment Confidence
mitochondrion 5
nucleus 3
peroxisome 1
cytosol 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MTIF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IC 12095986
genes like me logo Genes that share ontologies with MTIF3: view

Pathways & Interactions for MTIF3 Gene

genes like me logo Genes that share pathways with MTIF3: view

Pathways by source for MTIF3 Gene

Gene Ontology (GO) - Biological Process for MTIF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006413 translational initiation IEA --
GO:0032790 ribosome disassembly IBA,IDA 12095986
GO:0070124 mitochondrial translational initiation IBA,IDA 12095986
genes like me logo Genes that share ontologies with MTIF3: view

No data available for SIGNOR curated interactions for MTIF3 Gene

Drugs & Compounds for MTIF3 Gene

No Compound Related Data Available

Transcripts for MTIF3 Gene

mRNA/cDNA for MTIF3 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTIF3

Clone products for research

  • Addgene plasmids for MTIF3

Alternative Splicing Database (ASD) splice patterns (SP) for MTIF3 Gene

No ASD Table

Relevant External Links for MTIF3 Gene

GeneLoc Exon Structure for
MTIF3

Expression for MTIF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTIF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTIF3 Gene

This gene is overexpressed in Salivary gland (13.9), Testis (9.6), Heart (9.3), and Liver (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTIF3 Gene



Protein tissue co-expression partners for MTIF3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTIF3

SOURCE GeneReport for Unigene cluster for MTIF3 Gene:

Hs.534582

Evidence on tissue expression from TISSUES for MTIF3 Gene

  • Skin(4.5)
  • Blood(4.4)
  • Spleen(4.4)
  • Lymph node(4.3)
  • Intestine(4.3)
  • Heart(2.8)
  • Muscle(2.6)
  • Liver(2.5)
  • Nervous system(2.5)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with MTIF3: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTIF3 Gene

Orthologs for MTIF3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MTIF3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTIF3 29 30
  • 99.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTIF3 29 30
  • 76.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTIF3 29 30
  • 74.88 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mtif3 29 16 30
  • 72.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtif3 29
  • 71.67 (n)
Oppossum
(Monodelphis domestica)
Mammalia MTIF3 30
  • 51 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTIF3 30
  • 47 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTIF3 29 30
  • 55.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTIF3 30
  • 40 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtif3 29
  • 54.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii mtif3 29 30
  • 52.62 (n)
OneToOne
Species where no ortholog for MTIF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MTIF3 Gene

ENSEMBL:
Gene Tree for MTIF3 (if available)
TreeFam:
Gene Tree for MTIF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTIF3: view image
Alliance of Genome Resources:
Additional Orthologs for MTIF3

Paralogs for MTIF3 Gene

Pseudogenes.org Pseudogenes for MTIF3 Gene

genes like me logo Genes that share paralogs with MTIF3: view

No data available for Paralogs for MTIF3 Gene

Variants for MTIF3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTIF3 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs140262959 Likely Benign: not provided 27,440,036(-) T/C
NM_152912.4(MTIF3):c.413A>G (p.Gln138Arg)
MISSENSE
rs1218825 -- p.Phe243Leu
rs17857314 -- p.Thr68Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTIF3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for MTIF3 Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTIF3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTIF3
Leiden Open Variation Database (LOVD)
MTIF3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MTIF3 Gene

Disorders for MTIF3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MTIF3 Gene - From: COP

Disorder Aliases PubMed IDs
hallucinogen abuse
- elite association - COSMIC cancer census association via MalaCards
Search MTIF3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTIF3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MTIF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTIF3 Gene

Publications for MTIF3 Gene

  1. Identification of mammalian mitochondrial translational initiation factor 3 and examination of its role in initiation complex formation with natural mRNAs. (PMID: 12095986) Koc EC … Spremulli LL (The Journal of biological chemistry 2002) 2 3 4
  2. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PMID: 20935630) Speliotes EK … Loos RJ (Nature genetics 2010) 3 40
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 40
  5. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E … Dekker JM (European journal of human genetics : EJHG 2009) 3 40

Products for MTIF3 Gene

Sources for MTIF3 Gene