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

Gene ID: 219402, updated on 27-Nov-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
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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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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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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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