• Gene id: 63933

Gene Summary

• Gene Symbol: MCUR1   Gene   UCSC   Ensembl
• Aliases: C6orf79, CCDC90A, FMP32
• Gene name: mitochondrial calcium uniporter regulator 1
• Alternate names: mitochondrial calcium uniporter regulator 1, MCU regulator 1, coiled-coil domain containing 90A, coiled-coil domain-containing protein 90A, mitochondrial, epididymis secretory sperm binding protein,
• Gene location: 6p23 (13814993: 13786548)     Exons: 10     NC_000006.12
• OMIM: 616952

Protein Summary

• Protein general information: Q96AQ8  
  • Name: Mitochondrial calcium uniporter regulator 1 (MCU regulator 1) (Coiled coil domain containing protein 90A, mitochondrial)
  • Length: 359  
  • Mass: 39694
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MDCGSVGGQRTQRLPGRQRLLFLPVGLSGRPGGSETSARRCLSALSDGLGALRPRAPAARGGVSRASPLLLLLLV
  PSPRLAAAAPRRQLGDWERSRLGYAAPPAGRSSAWRCSPGVAAAAGALPQYHGPAPALVSCRRELSLSAGSLQLE
  RKRRDFTSSGSRKLYFDTHALVCLLEDNGFATQQAEIIVSALVKILEANMDIVYKDMVTKMQQEITFQQVMSQIA
  NVKKDMIILEKSEFSALRAENEKIKLELHQLKQQVMDEVIKVRTDTKLDFNLEKSRVKELYSLNEKKLLELRTEI
  VALHAQQDRALTQTDRKIETEVAGLKTMLESHKLDNIKYLAGSIFTCLTVALGFYRLWI

• Structural information:
  • Interpro: IPR024461  IPR012439  
  • DIP: 61861
  • STRING: ENSP00000368468
• Other Databases: GeneCards:  MCUR1  Malacards:  MCUR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0036444	calcium import into the mitochondrion	IBA	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IBA	biological process
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process
GO:0070509	calcium ion import	IMP	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036444	calcium import into the mitochondrion	IMP	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	IMP	biological process
GO:0036444	calcium import into the mitochondrion	IMP	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	IMP	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006851	mitochondrial calcium ion transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component

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)