MTIF3 (mitochondrial translational initiation factor 3)

Gene

• Entrez ID: 219402
• Gene name: Mitochondrial translational initiation factor 3
• Gene symbol: MTIF3
• Synonyms (NCBI Gene): IF3mt
• Chromosome: 13
• Chromosome location: 13q12.2
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003743	Function	Translation initiation factor activity	IBA
GO:0003743	Function	Translation initiation factor activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS	12095986
GO:0006412	Process	Translation	IEA
GO:0006413	Process	Translational initiation	IEA
GO:0008135	Function	Translation factor activity, RNA binding	IDA	12095986
GO:0032790	Process	Ribosome disassembly	IBA
GO:0032790	Process	Ribosome disassembly	IDA	12095986
GO:0043022	Function	Ribosome binding	IBA
GO:0043024	Function	Ribosomal small subunit binding	IDA	12095986
GO:0070124	Process	Mitochondrial translational initiation	IBA

Other IDs

• MIM: 619554
• HGNC: 29788
• e!Ensembl: ENSG00000122033

Protein

• UniProt ID: Q9H2K0
• Protein name: Translation initiation factor IF-3, mitochondrial (IF-3(Mt)) (IF-3Mt) (IF3(mt)) (IF3mt)
• Protein function: IF-3 binds to the 28S ribosomal subunit and shifts the equilibrium 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.
• PDB: 6NEQ, 6NF8, 6RW4, 6RW5, 7P2E, 8QRM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05198	IF3_N	78 → 146	Translation initiation factor IF-3, N-terminal domain	Domain

• Sequence:

  MAALFLKRLTLQTVKSENSCIRCFGKHILQKTAPAQLSPIASAPRLSFLIHAKAFSTAED
  TQNEGKKTKKNKTAFSNVGRKISQRVIHLFDEKGNDLGNMHRANVIRLMDERDLRLVQRN
  TSTEPAEYQLMTGLQILQERQRLREMEKANPKTGPTLRKELILSSNIGQHDLDTKTKQIQ
  QWIKKKHLVQITIKKGKNVDVSENEMEEIFHQILQTMPGIATFSSRPQAVQGGKALMCVL
  RAFSKNEEKAYKETQETQERDTLNKDHGNDKESNVLHQ

• Sequence length: 278

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Diabetes Mellitus Type 1	Associate	29990590	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Associate	37889747	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	22513296, 24885863, 25994509, 27486100, 36876906	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Associate	37889747	★☆☆☆☆ Found in Text Mining only
Weight Loss	Associate	26253612, 26337695, 36876906	★☆☆☆☆ Found in Text Mining only