MTFR1 - mitochondrial fission regulator 1 Gene

Also Known as CHPPR; FAM54A2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9650

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

0
100
200
300
333 a.a.

Protein Preferred Names	Protein Names
mitochondrial fission regulator 1	chondrocyte protein with a poly-proline region

MTFR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MTFR1	Q15390	SYT16	Homo sapiens	Q17RD7	Validated Y2H	32296183
Intra	MTFR1	Q15390	DIABLO	Homo sapiens	Q9NR28	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	Unkown
HY-RS08770	MTFR1L Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MTFR1	NCBI