U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 219402, updated on 6-Sep-2022

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MTIF3 in Genome Data Viewer
Location:
13q12.2
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (27435643..27450564, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (26656396..26671336, complement)
105.20220307 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 RNY1 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
Process Evidence Code Pubs
involved_in mitochondrial translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial translational initiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ribosome disassembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ribosome disassembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IC
Inferred by Curator
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001166261.2NP_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
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  2. NM_001166262.2NP_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
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  3. NM_001166263.2NP_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
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  4. NM_152912.5NP_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
    Q86X68, Q9H2K0
    Related
    ENSP00000370512.3, ENST00000381120.8
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_006719772.5XP_006719835.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006719835.1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Related
    ENSP00000384659.2, ENST00000405591.3
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  2. XM_047430128.1XP_047286084.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68
    Related
    ENSP00000370508.1, ENST00000381116.5
  3. XM_011534957.4XP_011533259.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533259.1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  4. XM_047430127.1XP_047286083.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68
  5. XM_047430133.1XP_047286089.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68
  6. XM_047430132.1XP_047286088.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68
  7. XM_011534961.4XP_011533263.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533263.1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  8. XM_011534963.4XP_011533265.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533265.1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  9. XM_047430130.1XP_047286086.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68
  10. XM_047430126.1XP_047286082.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68
  11. XM_017020417.2XP_016875906.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  12. XM_047430131.1XP_047286087.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68
  13. XM_011534958.4XP_011533260.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533260.1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  14. XM_011534959.4XP_011533261.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533261.1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  15. XM_047430129.1XP_047286085.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68
  16. XM_006719771.4XP_006719834.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006719834.1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  17. XM_047430134.1XP_047286090.1  translation initiation factor IF-3, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q86X68
  18. XM_011534960.3XP_011533262.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533262.1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    InfC; Translation initiation factor IF-3 [Translation, ribosomal structure and biogenesis]
  19. XM_011534962.3XP_011533264.1  translation initiation factor IF-3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011533264.1

    UniProtKB/Swiss-Prot
    Q86X68, Q9H2K0
    Conserved Domains (1) summary
    COG0290
    Location:65240
    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)