• Gene id: 56181

Gene Summary

• Gene Symbol: MTFR1L   Gene   UCSC   Ensembl
• Aliases: FAM54B, HYST1888, MST116, MSTP116
• Gene name: mitochondrial fission regulator 1 like
• Alternate names: mitochondrial fission regulator 1-like, family with sequence similarity 54 member B, protein FAM54B,
• Gene location: 1p36.11 (107459680: 107152556)     Exons: 11     NC_000006.12

Protein Summary

• Protein general information: Q9H019  
  • Name: Mitochondrial fission regulator 1 like
  • Length: 292  
  • Mass: 31957
• Sequence:

  MSGMEATVTIPIWQNKPHGAARSVVRRIGTNLPLKPCARASFETLPNISDLCLRDVPPVPTLADIAWIAADEEET
  YARVRSDTRPLRHTWKPSPLIVMQRNASVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADA
  ASASLTPDFLSPGSSNVSSPLPCFGSSFHSTTSFVISDITEETEVEVPELPSVPLLCSASPECCKPEHKAACSSS
  EEDDCVSLSKASSFADMMGILKDFHRMKQSQDLNRSLLKEEDPAVLISEVLRRKFALKEEDISRKGN

• Structural information:
  • Interpro: IPR007972  
  • STRING: ENSP00000363419
• Other Databases: GeneCards:  MTFR1L  Malacards:  MTFR1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0000266	mitochondrial fission	IBA	biological process
GO:0009060	aerobic respiration	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
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)