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    MTIF3 mitochondrial translational initiation factor 3 [ Homo sapiens (human) ]

    Gene ID: 219402, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MTIF3provided by HGNC
    Official Full Name
    mitochondrial translational initiation factor 3provided by HGNC
    Primary source
    HGNC:HGNC:29788
    See related
    Ensembl:ENSG00000122033 MIM:619554; AllianceGenome:HGNC:29788
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IF3mt
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 26.6), testis (RPKM 20.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTIF3 in Genome Data Viewer
    Location:
    13q12.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (27435643..27450564, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (26656396..26671336, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28009780..28024701, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:27977989-27978559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5202 Neighboring gene RNY1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7504 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:28002174-28002554 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:28008622-28009821 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:28023938-28024852 Neighboring gene general transcription factor IIIA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7507 Neighboring gene Sharpr-MPRA regulatory region 13742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7508 Neighboring gene RNA, U6 small nuclear 63, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32806 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28107144-28107644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28107645-28108145 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32810 Neighboring gene ligand of numb-protein X 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:28194694-28195422 Neighboring gene RNA polymerase I and III subunit D

    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
    • 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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    Related articles in PubMed

    1. Evidence for an active role of IF3mt in the initiation of translation in mammalian mitochondria. Christian BE, et al. Biochemistry, 2009 Apr 21. PMID 19239245, Free PMC Article
    2. Possible involvement of a mitochondrial translation initiation factor 3 variant causing decreased mRNA levels in Parkinson's disease. Anvret A, et al. Parkinsons Dis, 2010 Jun 14. PMID 20976088, Free PMC Article
    3. Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease. Behrouz B, et al. Neurosci Lett, 2010 Dec 17. PMID 20887776
    4. Genetic Predisposition to Weight Loss and Regain With Lifestyle Intervention: Analyses From the Diabetes Prevention Program and the Look AHEAD Randomized Controlled Trials. Papandonatos GD, et al. Diabetes, 2015 Dec. PMID 26253612, Free PMC Article
    5. rs4771122 Predicts Multiple Measures of Long-Term Weight Loss After Bariatric Surgery. Rasmussen-Torvik LJ, et al. Obes Surg, 2015 Nov. PMID 26337695, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of a weight loss-associated causal eQTL in MTIF3 and the effects of MTIF3 deficiency on human adipocyte function.
      Title: Identification of a weight loss-associated causal eQTL in MTIF3 and the effects of MTIF3 deficiency on human adipocyte function.
    2. Initiation Factor 3 is Dispensable For Mitochondrial Translation in Cultured Human Cells.
      Title: Initiation Factor 3 is Dispensable For Mitochondrial Translation in Cultured Human Cells.
    3. This is dedicated to the mitochondrial translation initiation factor 3 (IF3mt), which plays a key role in the protein synthesis in mitochondria. Involvement of IF3mt in human health and disease is discussed.
      Title: Mitochondrial Translation Initiation Factor 3: Structure, Functions, Interactions, and Implication in Human Health and Disease.
    4. genetic association studies in cohorts of prediabetic patients at multiple sites: Data suggest that an SNP in MTIF3 (rs1885988) is associated with greater weight loss following lifestyle intervention in overweight/obese subjects with prediabetes.
      Title: Genetic Predisposition to Weight Loss and Regain With Lifestyle Intervention: Analyses From the Diabetes Prevention Program and the Look AHEAD Randomized Controlled Trials.
    5. single nucleotide polymorphisms rs4771122 of MTIF3 was the variant most significantly associated with long-term weight loss after surgery.
      Title: rs4771122 Predicts Multiple Measures of Long-Term Weight Loss After Bariatric Surgery.
    6. Changes in function or expression of MTIF3 indicates mitochondrial dysfunction and contributes to the risk of Parkinson's disease.
      Title: Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease.
    7. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Possible involvement of a mitochondrial translation initiation factor 3 variant causing decreased mRNA levels in Parkinson's disease.
    9. the c.798C>T polymorphism of the MTIF3 gene showed allelic association with Parkinson's disease
      Title: Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease.
    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
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    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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    Markers

    Homology

    Clone Names

    • FLJ33676

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosomal small subunit binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables translation factor activity, RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables translation initiation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translational initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosome disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosome disassembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    translation initiation factor IF-3, mitochondrial
    Names
    IF-3(Mt)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001166261.2 → NP_001159733.1  translation initiation factor IF-3, mitochondrial

      See identical proteins and their annotated locations for NP_001159733.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AL137059, BC039599, BM312841, DB470026
      Consensus CDS
      CCDS9322.1
      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    2. NM_001166262.2 → NP_001159734.1  translation initiation factor IF-3, mitochondrial

      See identical proteins and their annotated locations for NP_001159734.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AL137059, BM312841, BM548061, DB456678
      Consensus CDS
      CCDS9322.1
      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    3. NM_001166263.2 → NP_001159735.1  translation initiation factor IF-3, mitochondrial

      See identical proteins and their annotated locations for NP_001159735.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      BI460170, BM768315, CN272769
      Consensus CDS
      CCDS9322.1
      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    4. NM_152912.5 → NP_690876.3  translation initiation factor IF-3, mitochondrial

      See identical proteins and their annotated locations for NP_690876.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AL137059, BC046166
      Consensus CDS
      CCDS9322.1
      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Related
      ENSP00000370512.3, ENST00000381120.8
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      27435643..27450564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719772.5 → XP_006719835.1  translation initiation factor IF-3, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006719835.1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Related
      ENSP00000384659.2, ENST00000405591.3
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    2. XM_047430128.1 → XP_047286084.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Related
      ENSP00000370508.1, ENST00000381116.5

    3. XM_011534957.4 → XP_011533259.1  translation initiation factor IF-3, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011533259.1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    4. XM_047430127.1 → XP_047286083.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0

    5. XM_047430133.1 → XP_047286089.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0

    6. XM_047430132.1 → XP_047286088.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0

    7. XM_011534961.4 → XP_011533263.1  translation initiation factor IF-3, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011533263.1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    8. XM_011534963.4 → XP_011533265.1  translation initiation factor IF-3, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011533265.1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    9. XM_047430130.1 → XP_047286086.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0

    10. XM_047430126.1 → XP_047286082.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0

    11. XM_017020417.2 → XP_016875906.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    12. XM_047430131.1 → XP_047286087.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0

    13. XM_011534958.4 → XP_011533260.1  translation initiation factor IF-3, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011533260.1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    14. XM_011534959.4 → XP_011533261.1  translation initiation factor IF-3, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011533261.1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    15. XM_047430129.1 → XP_047286085.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0

    16. XM_006719771.4 → XP_006719834.1  translation initiation factor IF-3, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006719834.1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    17. XM_047430134.1 → XP_047286090.1  translation initiation factor IF-3, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0

    18. XM_011534960.3 → XP_011533262.1  translation initiation factor IF-3, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011533262.1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    19. XM_011534962.3 → XP_011533264.1  translation initiation factor IF-3, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011533264.1

      UniProtKB/Swiss-Prot
      Q05BL8, Q5W0V0, Q86X68, Q9H2K0
      Conserved Domains (1) summary
      COG0290
      Location:65 → 240
      InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      26656396..26671336 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374175.1 → XP_054230150.1  translation initiation factor IF-3, mitochondrial isoform X1

    2. XM_054374180.1 → XP_054230155.1  translation initiation factor IF-3, mitochondrial isoform X1

    3. XM_054374181.1 → XP_054230156.1  translation initiation factor IF-3, mitochondrial isoform X1

    4. XM_054374177.1 → XP_054230152.1  translation initiation factor IF-3, mitochondrial isoform X1

    5. XM_054374190.1 → XP_054230165.1  translation initiation factor IF-3, mitochondrial isoform X1

    6. XM_054374189.1 → XP_054230164.1  translation initiation factor IF-3, mitochondrial isoform X1

    7. XM_054374179.1 → XP_054230154.1  translation initiation factor IF-3, mitochondrial isoform X1

    8. XM_054374187.1 → XP_054230162.1  translation initiation factor IF-3, mitochondrial isoform X1

    9. XM_054374186.1 → XP_054230161.1  translation initiation factor IF-3, mitochondrial isoform X1

    10. XM_054374174.1 → XP_054230149.1  translation initiation factor IF-3, mitochondrial isoform X1

    11. XM_054374176.1 → XP_054230151.1  translation initiation factor IF-3, mitochondrial isoform X1

    12. XM_054374188.1 → XP_054230163.1  translation initiation factor IF-3, mitochondrial isoform X1

    13. XM_054374178.1 → XP_054230153.1  translation initiation factor IF-3, mitochondrial isoform X1

    14. XM_054374183.1 → XP_054230158.1  translation initiation factor IF-3, mitochondrial isoform X1

    15. XM_054374182.1 → XP_054230157.1  translation initiation factor IF-3, mitochondrial isoform X1

    16. XM_054374173.1 → XP_054230148.1  translation initiation factor IF-3, mitochondrial isoform X1

    17. XM_054374184.1 → XP_054230159.1  translation initiation factor IF-3, mitochondrial isoform X1

    18. XM_054374185.1 → XP_054230160.1  translation initiation factor IF-3, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H2K0.4 GenPept UniProtKB/Swiss-Prot:Q9H2K0

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