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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTIF3 Gene

protein-coding   GIFtS: 48
GCID: GC13M028009

Mitochondrial Translational Initiation Factor 3

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mitochondrial Translational Initiation Factor 31 2
IF-3(Mt)2 3
IF3mt2 3
Translation Initiation Factor IF-3, Mitochondrial2
IF-3Mt3
IF3(mt)3

External Ids:    HGNC: 297881   Entrez Gene: 2194022   Ensembl: ENSG000001220337   UniProtKB: Q9H2K03   

Export aliases for MTIF3 gene to outside databases

Previous GC identifers: GC13M025989 GC13M021988 GC13M026938 GC13M025807 GC13M026907 GC13M008831


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 parkinson's disease, and diabetes mellitus. GO annotations related to this gene include ribosomal small subunit binding and translation initiation factor activity.

UniProtKB/Swiss-Prot: IF3M_HUMAN, Q9H2K0
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MTIF3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTIF3 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTIF3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTIF3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12.2   Ensembl cytogenetic band:  13q12.2   HGNC cytogenetic band: 13q12.2

MTIF3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTIF3 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M028009:  view genomic region     (about GC identifiers)

Start:
28,009,776 bp from pter      End:
28,024,739 bp from pter
Size:
14,964 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IF3M_HUMAN, Q9H2K0 (See protein sequence)
Recommended Name: Translation initiation factor IF-3, mitochondrial precursor  
Size: 278 amino acids; 31725 Da
Subcellular location: Mitochondrion (Probable)
Sequence caution: Sequence=AAH39599.1; Type=Frameshift; Positions=246;
Secondary accessions: Q05BL8 Q5W0V0 Q86X68

Explore the universe of human proteins at neXtProt for MTIF3: NX_Q9H2K0

Explore proteomics data for MTIF3 at MOPED 

MTIF3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

MTIF3 Protein Expression

REFSEQ proteins (4 alternative transcripts): 
NP_001159733.1  NP_001159734.1  NP_001159735.1  NP_690876.3  

ENSEMBL proteins: 
 ENSP00000370508   ENSP00000370512   ENSP00000400084   ENSP00000384659  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IC12095986

MTIF3 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
3 InterPro protein domains:
 IPR019814 Translation_initiation_fac_3_N
 IPR019815 Translation_initiation_fac_3_C
 IPR001288 Translation_initiation_fac_3

Graphical View of Domain Structure for InterPro Entry Q9H2K0

ProtoNet protein and cluster: Q9H2K0

1 Blocks protein domain: IPB001288 Initiation factor 3

UniProtKB/Swiss-Prot: IF3M_HUMAN, Q9H2K0
Similarity: Belongs to the IF-3 family


MTIF3 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: IF3M_HUMAN, Q9H2K0
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

     Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003743translation initiation factor activity IEA--
GO:0008135translation factor activity, nucleic acid binding IDA12095986
GO:0043024ribosomal small subunit binding IDA12095986
     
MTIF3 for ontologies           About GeneDecksing


Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section




Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTIF3

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for MTIF3 (ENSP000003705084) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
MAPK1ENSP000002158324STRING: ENSP00000215832
--ENSP000002336094STRING: ENSP00000233609
About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001732formation of translation initiation complex IDA12095986
GO:0006413translational initiation ----
GO:0006446regulation of translational initiation IDA12095986
GO:0032790ribosome disassembly IDA12095986

MTIF3 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MTIF3 (IF3M)

Search CenterWatch for drugs/clinical trials and news about MTIF3 / IF3M

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MTIF3 gene (4 alternative transcripts): 
NM_001166261.1  NM_001166262.1  NM_001166263.1  NM_152912.4  

Unigene Cluster for MTIF3:

Mitochondrial translational initiation factor 3
Hs.534582  [show with all ESTs]
Unigene Representative Sequence: AL832728
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000381116(uc001urk.3) ENST00000381120 ENST00000461838 ENST00000460973
ENST00000471771 ENST00000493719 ENST00000485650 ENST00000485959 ENST00000484342
ENST00000483903 ENST00000464753 ENST00000431572(uc001urh.3 uc021rhm.1 uc001urj.3)
ENST00000405591(uc021rhl.1 uc001uri.3)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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                     Customized lentivirus expression plasmids for stable overexpression of MTIF3 
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Additional mRNA sequence: 

AF410851.1 AK090995.1 AK094420.1 AL832728.1 BC039599.1 BC046166.1 

17 DOTS entries:

DT.100820160  DT.87017152  DT.87008500  DT.100664844  DT.100765244  DT.101984289  DT.100678717  DT.95235904 
DT.100739738  DT.100820167  DT.120769633  DT.75156476  DT.97855947  DT.100038816  DT.100671109  DT.100773125 
DT.120769649 

24/205 AceView cDNA sequences (see all 205):

N35287 BM698996 BU172951 AI378188 BM852666 AW139820 BM768315 N35933 
BM856438 AA973780 AI458229 AA235676 AI393761 BE504208 AK090995 AI269135 
AA236892 AA258717 N45430 AI288042 BG541999 BM768550 CR594840 CF128114 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MTIF3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTCTGAGAGA
MTIF3 Expression
About this image


See MTIF3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MTIF3

SOURCE GeneReport for Unigene cluster: Hs.534582
    SABiosciences Custom PCR Arrays for MTIF3
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTIF3
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTIF3

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MTIF3 gene from 4/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mtif31 , 5 mitochondrial translational initiation factor 31, 5 72.77(n)1
66.3(a)1
  5 (86.57 cM)5
763661  NM_001256100.11  NP_001243029.11 
 1469515735 
chicken
(Gallus gallus)
Aves MTIF31 mitochondrial translational initiation factor 3 55.14(n)
39.85(a)
  418930  XM_417124.3  XP_417124.2 
lizard
(Anolis carolinensis)
Reptilia MTIF36
Uncharacterized protein
37(a)
1 ↔ 1
GL343306.1(1169225-1174335)
zebrafish
(Danio rerio)
Actinopterygii mtif31 mitochondrial translational initiation factor 3 53.43(n)
44.12(a)
  325802  XM_003198725.1  XP_003198773.1 


ENSEMBL Gene Tree for MTIF3 (if available)
TreeFam Gene Tree for MTIF3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for MTIF3 gene

MTIF3 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for MTIF3
PGOHUM00000235105


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/393 SNPs in MTIF3 are shown (see all 393)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 13 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0310464
----see VAR_0310462 F L mis40--------
rs751139031,2
C--28010356(+) CCCCAA/GGGTGT 4 -- int12Minor allele frequency- G:0.08CSA WA 120
rs577249941,2
C--28010389(+) CTCTAT/CTGCCC 4 -- int16Minor allele frequency- C:0.30WA CSA NA EA 364
rs1396485821,2
--28010426(+) AACAAA/GTGGAT 4 -- int10--------
rs783228671,2
C,F--28010429(+) AAATGG/TATACC 4 -- int12Minor allele frequency- T:0.08NA EA 240
rs762491731,2
C,F--28010445(+) TCAAGA/GAATTC 4 -- int12Minor allele frequency- G:0.17NA EA 240
rs754394831,2
C,F--28010512(+) TAAGGA/GTACCC 4 -- int12Minor allele frequency- G:0.17NA EA 240
rs770550701,2
C,F--28010516(+) GATACC/GCTTAG 4 -- int12Minor allele frequency- G:0.17NA EA 240
rs766650541,2
--28010546(+) ACTTTA/TAAAAA 4 -- int10--------
rs1996378551,2
C--28010546(+) AAAAA-/AGCAAA 4 -- int10--------

HapMap Linkage Disequilibrium report for MTIF3 (28009776 - 28024739 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for MTIF3:    About this table     
Variant IDTypeSubtypePubMed ID
nsv899951CNV Loss21882294

SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
4 diseases for MTIF3:    About MalaCards
parkinson's disease    diabetes mellitus    pneumonia    gastric cancer


MTIF3 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
Genetic Association Database (GAD): MTIF3
Human Genome Epidemiology (HuGE) Navigator: MTIF3 (6 documents)

Export disorders for MTIF3 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for MTIF3 gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with MTIF3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of mammalian mitochondrial translational initiation factor 3 and examination of its role in initiation complex formation with natural mRNAs. (PubMed id 12095986)1, 2, 3 Koc E.C. and Spremulli L.L. (2002)
  2. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PubMed id 20935630)1, 4 Speliotes E.K....Loos R.J. (2010)
  3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
  4. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PubMed id 19209188)1, 4 Reiling E....Dekker J.M. (2009)
  5. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
  6. Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease. (PubMed id 17267121)1, 4 Abahuni N....Auburger G. (2007)
  7. The interaction of mammalian mitochondrial translational initiation factor 3 with ribosomes: evolution of terminal extensions in IF3mt. (PubMed id 18056078)1, 9 Haque M.E....Spremulli L.L. (2008)
  8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
  9. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
  10. Mitochondrial translation initiation factor 3 polymor phism and Parkinson's disease. (PubMed id 20887776)1 Behrouz B....Farrer M.J. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 219402 HGNC: 29788 AceView: MTIF3 Ensembl:ENSG00000122033 euGenes: HUgn219402
ECgene: MTIF3 H-InvDB: MTIF3

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for MTIF3 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for MTIF3 gene:
Search GeneIP for patents involving MTIF3

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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Customized:
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 lentivirus expression plasmids for stable overexpression of MTIF3
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category
(GIFtS: 73)
transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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