2. Gene
  3. MTFR1 - mitochondrial fission regulator 1 Gene

MTFR1 - mitochondrial fission regulator 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CHPPR; FAM54A2

Gene ID: 9650 | Gene type: protein coding

About MTFR1

Cytogenetic location: 8q13.1 Genomic coordinates (GRCh38): 8:65,643,889-65,778,598 (from NCBI)

This gene has 15 transcripts (splice variants), 217 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 10.4), testis (RPKM 8.6) and 25 other tissues.

Summary

This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]

MTFR1 Products(19)

mRNA Protein Name
NM_001145838.2 NP_001139310.1 mitochondrial fission regulator 1 isoform 2
NM_001145839.2 NP_001139311.1 mitochondrial fission regulator 1 isoform 3
NM_001413068.1 NP_001399997.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413069.1 NP_001399998.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413070.1 NP_001399999.1 mitochondrial fission regulator 1 isoform 6 precursor
NM_001413071.1 NP_001400000.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413073.1 NP_001400002.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413074.1 NP_001400003.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413075.1 NP_001400004.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413076.1 NP_001400005.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413077.1 NP_001400006.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413078.1 NP_001400007.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413079.1 NP_001400008.1 mitochondrial fission regulator 1 isoform 5
NM_001413080.1 NP_001400009.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413081.1 NP_001400010.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413082.1 NP_001400011.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413083.1 NP_001400012.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413084.1 NP_001400013.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_014637.4 NP_055452.3 mitochondrial fission regulator 1 isoform 1 precursor

MTFR1 Protein Structure

Mito_fiss_reg

Mito_fiss_reg: Mitochondrial fission regulator (20 - 251)

  • 0
  • 100
  • 200
  • 300
  • 333 a.a.
Protein Preferred Names Protein Names

mitochondrial fission regulator 1

chondrocyte protein with a poly-proline region

Related Diseases

Diseases Alias
Optic Atrophy 3, Autosomal Dominant

Optic Atrophy 3

OPA3

Autosomal Dominant Optic Atrophy And Cataract

Optic Atrophy And Cataract, Autosomal Dominant

Autosomal Dominant Optic Atrophy Type 3

Optic Atrophy 3 With Cataract

Opa3, Autosomal Dominant

Adoac

Optic Atrophy, Cataract, And Neurologic Disorder

Autosomal Dominant Optic Atrophy 3

Optic Atrophy Type 3

Optic Atrophy 3 Autosomal Dominant

Atrophy, Optic, Type 3, Autosomal Dominant

3-Methylglutaconic Aciduria Type 3
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome

SRTD6

Srps2a

Short Rib-Polydactyly Syndrome, Majewski Type

Polydactyly With Neonatal Chondrodystrophy, Type Ii

Short Rib-Polydactyly Syndrome Type Iia

Short Rib-Polydactyly Syndrome Type 2

Short Rib-Polydactyly Syndrome Type Ii

Short Rib-Polydactyly Syndrome, Type Ii

Srps, Type Ii

Short Rib-Polydactyly Syndrome, Type Iia

Polydactyly With Neonatal Chondrodystrophy Type 2

Srps Type 2

Short Rib-Polydactyly Syndrome Majewski Type

Polydactyly With Neonatal Chondrodystrophy Type Ii

Short Rib-Polydactyly Syndrome 2a

Srps Type Ii
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08769 MTFR1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS08770 MTFR1L Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus MTFR1 VGNC VGNC:81710
Bos taurus MTFR1 VGNC VGNC:31726
Rattus norvegicus MTFR1 RGD RGD:1304936
Mus musculus MTFR1 MGD MGI:1914722
Canis familiaris MTFR1 VGNC VGNC:103693
Macaca mulatta MTFR1 VGNC VGNC:74857