1. Gene
  2. MTIF3 - mitochondrial translational initiation factor 3 Gene

MTIF3 - mitochondrial translational initiation factor 3 Gene

Homo sapiens

Also known as IF3mt

Gene ID: 219402 | Gene type: protein coding

About MTIF3

Cytogenetic location: 13q12.2 Genomic coordinates (GRCh38): 13:27,435,643-27,450,564 (from NCBI)

This gene has 12 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in fat (RPKM 26.6), testis (RPKM 20.2) and 25 other tissues.

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]

MTIF3 Products(4)

mRNA Protein Name
NM_001166261.2 NP_001159733.1 translation initiation factor IF-3, mitochondrial
NM_001166262.2 NP_001159734.1 translation initiation factor IF-3, mitochondrial
NM_001166263.2 NP_001159735.1 translation initiation factor IF-3, mitochondrial
NM_152912.5 NP_690876.3 translation initiation factor IF-3, mitochondrial

MTIF3 Protein Structure

IF3_N

IF3_N: Translation initiation factor IF-3, N-terminal domain (76 - 145)

IF3_C

IF3_C: Translation initiation factor IF-3, C-terminal domain (159 - 240)

  • 0
  • 100
  • 200
  • 278 a.a.
Protein Preferred Names Protein Names

translation initiation factor IF-3, mitochondrial

IF-3(Mt)

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 39

COXPD39

Combined Oxidative Phosphorylation Defect Type 39

Gfm2-Related Combined Oxidative Phosphorylation Defect

Hallucinogen Abuse
Combined Oxidative Phosphorylation Deficiency 3

Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3

COXPD3

Encephalomyopathy, Respiratory Failure, And Lactic Acidosis

Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis

Fatal Mitochondrial Disease Due To Coxpd3

Concentric Cardiomyopathy Hypotonia And Lactic Acidosis

Encephalomyopathy Respiratory Failure And Lactic Acidosis

Encephalomyopathy With Respiratory Failure And Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 3

Combined Oxidative Phosphorylation Deficiency 1

Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1

COXPD1

Early Fatal Progressive Hepatoencephalopathy

Hepatoencephalopathy Due To Coxpd1

Combined Oxidative Phosphorylation Deficiency, Type 1

Hepatoencephalopathy, Early Fatal Progressive

Hepatoencephalopathy Early Fatal Progressive

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MTIF3 RGD RGD:1592673
Macaca mulatta MTIF3 VGNC VGNC:75040
Bos taurus MTIF3 VGNC VGNC:31734
Mus musculus MTIF3 MGD MGI:1923616
Canis familiaris MTIF3 VGNC VGNC:43476
Felis catus MTIF3 VGNC VGNC:63651