• Gene id: 9650

Gene Summary

• Gene Symbol: MTFR1   Gene   UCSC   Ensembl
• Aliases: CHPPR, FAM54A2
• Gene name: mitochondrial fission regulator 1
• Alternate names: mitochondrial fission regulator 1, chondrocyte protein with a poly-proline region,
• Gene location: 8q13.1 (65643872: 65771251)     Exons: 13     NC_000008.11
• Gene summary(Entrez): 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 i

Protein Summary

• Protein general information: Q15390  
  • Name: Mitochondrial fission regulator 1 (Chondrocyte protein with a poly proline region)
  • Length: 333  
  • Mass: 37000
• Sequence:

  MLGWIKRLIRMVFQQVGVSMQSVLWSRKPYGSSRSIVRKIGTNLSLIQCPRVQFQINSHATEWSPSHPGEDAVAS
  FADVGWVAKEEGECSARLRTEVRSRPPLQDDLLFFEKAPSRQISLPDLSQEEPQLKTPALANEEALQKICALENE
  LAALRAQIAKIVTQQEQQNLTAGDLDSTTFGTIPPHPPPPPPPLPPPALGLHQSTSAVDLIKERREKRANAGKTL
  VKNNPKKPEMPNMLEILKEMNSVKLRSVKRSEQDVKPKPVDATDPAALIAEALKKKFAYRYRSDSQDEVEKGIPK
  SESEATSERVLFGPHMLKPTGKMKALIENVSDS

• Structural information:
  • Interpro: IPR007972  
  • STRING: ENSP00000262146
• Other Databases: GeneCards:  MTFR1  Malacards:  MTFR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009060	aerobic respiration	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0009060	aerobic respiration	IBA	biological process
GO:0000266	mitochondrial fission	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0009060	aerobic respiration	ISS	biological process
GO:0007005	mitochondrion organization	ISS	biological process
GO:0000266	mitochondrial fission	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq