1. Gene
  2. MIEF1 - mitochondrial elongation factor 1 Gene

MIEF1 - mitochondrial elongation factor 1 Gene

Homo sapiens

Also known as MID51; L0R8F8; SMCR7L; AltMIEF1; HSU79252; MIEF1-MP; dJ1104E15.3

Gene ID: 54471 | Gene type: protein coding

About MIEF1

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:39,500,100-39,518,132 (from NCBI)

This gene has 14 transcripts (splice variants), 207 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 13.7), kidney (RPKM 8.6) and 25 other tissues.

Summary

Enables ADP binding activity; GDP binding activity; and identical protein binding activity. Involved in several processes, including positive regulation of mitochondrial fission; positive regulation of mitochondrial translation; and positive regulation of protein targeting to membrane. Located in mitochondrial matrix and mitochondrial outer membrane. Colocalizes with mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022]

MIEF1 Products(2)

mRNA Protein Name
NM_001304564.2 NP_001291493.1 mitochondrial dynamics protein MID51 isoform 2
NM_019008.6 NP_061881.2 mitochondrial dynamics protein MID51 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables ADP binding IDA
IDA: Inferred from direct assay
24515348 GOA
enables GDP binding IDA
IDA: Inferred from direct assay
24515348 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
21701560 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence Reference Source
involved in mitochondrial fission IMP
IMP: Inferred from mutant phenotype
21701560 GOA
NOT involved in mitochondrial fusion IMP
IMP: Inferred from mutant phenotype
23921378 GOA
involved in positive regulation of mitochondrial fission IDA
IDA: Inferred from direct assay
23283981 GOA
involved in positive regulation of mitochondrial fusion IMP
IMP: Inferred from mutant phenotype
33632269 GOA
NOT involved in positive regulation of protein targeting to membrane IDA
IDA: Inferred from direct assay
23921378 GOA
involved in positive regulation of protein targeting to membrane IDA
IDA: Inferred from direct assay
23283981 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
21508961 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
23921378 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MIEF1 Protein Structure

Mab-21

Mab-21: Mab-21 protein (189 - 452)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 463 a.a.
Protein Preferred Names Protein Names

mitochondrial dynamics protein MID51

MIEF1 microprotein

Related Diseases

Diseases Alias
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1

Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1

EMPF1

Empf

Dnm1l-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect

Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission

Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1

Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

Optic Nerve Disease

Optic Neuropathy

Disorder Of The Second Nerve

Optic Nerve Disorder

Optic Nerve

Abnormality Of The Optic Nerve

Optic Nerve Disorders

Neuropathy, Optic

Disorder Of The Optic Nerve

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

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
Canis familiaris MIEF1 VGNC VGNC:43226
Rattus norvegicus MIEF1 RGD RGD:1359173
Bos taurus MIEF1 VGNC VGNC:31467
Mus musculus MIEF1 MGD MGI:2146020
Felis catus MIEF1 VGNC VGNC:63498
Macaca mulatta MIEF1 VGNC VGNC:74832