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

Gene ID: 219402, updated on 8-Jul-2018
Official Symbol
MTIF3provided by HGNC
Official Full Name
mitochondrial translational initiation factor 3provided by HGNC
Primary source
HGNC:HGNC:29788
See related
Ensembl:ENSG00000122033 Vega:OTTHUMG00000016633
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
See MTIF3 in Genome Data Viewer
Location:
13q12.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (27435639..27450897, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28009776..28024739, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370126 Neighboring gene RNA, Ro-associated Y1 pseudogene 1 Neighboring gene general transcription factor IIIA Neighboring gene RNA, U6 small nuclear 63, pseudogene Neighboring gene ligand of numb-protein X 2 Neighboring gene RNA polymerase I and III subunit D

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
  • Mitochondrial translation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation, organism-specific biosystemOf the roughly 1000 human mitochondrial proteins only 13 proteins, all of them hydrophobic inner membrane proteins that are components of the oxidative phosphorylation apparatus, are encoded in the m...
  • Mitochondrial translation initiation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation initiation, organism-specific biosystemTranslation initiates with the mitochondrial mRNA binding the 28S subunit:MTIF3 (28S subunit:IF-3Mt, 28S subunit:IF3mt) complex together with MTIF2:GTP (IF-2Mt:GTP, IF2mt:GTP) (reviewed in Christian ...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ33676

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribosomal small subunit binding IDA
Inferred from Direct Assay
more info
PubMed 
ribosome binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translation factor activity, RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
translation initiation factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
mitochondrial translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial translational initiation IDA
Inferred from Direct Assay
more info
PubMed 
ribosome disassembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribosome disassembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IC
Inferred by Curator
more info
PubMed 
Preferred Names
translation initiation factor IF-3, mitochondrial
Names
IF-3(Mt)

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_001166261.1NP_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
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  2. NM_001166262.1NP_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)
    BM312841, BM548061, DB456678
    Consensus CDS
    CCDS9322.1
    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  3. NM_001166263.1NP_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)
    AL137059, BI460170, BM312841, BM768315, CN272769
    Consensus CDS
    CCDS9322.1
    UniProtKB/Swiss-Prot
    Q9H2K0
    Related
    ENSP00000370508.1, OTTHUMP00000018168, ENST00000381116.5, OTTHUMT00000044300
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  4. NM_152912.4NP_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, BG617536, BM312841
    Consensus CDS
    CCDS9322.1
    UniProtKB/Swiss-Prot
    Q9H2K0
    Related
    ENSP00000370512.3, OTTHUMP00000018169, ENST00000381120.7, OTTHUMT00000044301
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    27435639..27450897 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719772.4XP_006719835.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006719835.1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  2. XM_011534957.3XP_011533259.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533259.1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  3. XM_024449331.1XP_024305099.1  translation initiation factor IF-3, mitochondrial isoform X1

    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  4. XM_011534961.3XP_011533263.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533263.1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  5. XM_011534963.3XP_011533265.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533265.1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  6. XM_011534958.3XP_011533260.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533260.1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  7. XM_011534959.3XP_011533261.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533261.1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  8. XM_006719771.3XP_006719834.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006719834.1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  9. XM_017020417.1XP_016875906.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Related
    ENSP00000384659.2, ENST00000405591.3
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  10. XM_011534960.2XP_011533262.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533262.1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
  11. XM_011534962.2XP_011533264.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533264.1

    UniProtKB/Swiss-Prot
    Q9H2K0
    Conserved Domains (2) summary
    pfam05198
    Location:78146
    IF3_N; Translation initiation factor IF-3, N-terminal domain
    cl27649
    Location:65240
    IF3_C; Translation initiation factor IF-3, C-terminal domain
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