• Gene id: 10367

Gene Summary

• Gene Symbol: MICU1   Gene   UCSC   Ensembl
• Aliases: CALC, CBARA1, EFHA3, MPXPS, ara CALC
• Gene name: mitochondrial calcium uptake 1
• Alternate names: calcium uptake protein 1, mitochondrial, atopy-related autoantigen CALC, calcium-binding atopy-related autoantigen 1,
• Gene location: 10q22.1 (72626190: 72367325)     Exons: 17     NC_000010.11
• Gene summary(Entrez): This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial

Protein Summary

• Protein general information: Q9BPX6  
  • Name: Calcium uptake protein 1, mitochondrial (Atopy related autoantigen CALC) (ara CALC) (Calcium binding atopy related autoantigen 1) (allergen Hom s 4)
  • Length: 476  
  • Mass: 54351
  • Tissue specificity: Expressed in epithelial cell lines. Strongly expressed in epidermal keratinocytes and dermal endothelial cells. {ECO
• Sequence:

  MFRLNSLSALAELAVGSRWYHGGSQPIQIRRRLMMVAFLGASAVTASTGLLWKRAHAESPPCVDNLKSDIGDKGK
  NKDEGDVCNHEKKTADLAPHPEEKKKKRSGFRDRKVMEYENRIRAYSTPDKIFRYFATLKVISEPGEAEVFMTPE
  DFVRSITPNEKQPEHLGLDQYIIKRFDGKKISQEREKFADEGSIFYTLGECGLISFSDYIFLTTVLSTPQRNFEI
  AFKMFDLNGDGEVDMEEFEQVQSIIRSQTSMGMRHRDRPTTGNTLKSGLCSALTTYFFGADLKGKLTIKNFLEFQ
  RKLQHDVLKLEFERHDPVDGRITERQFGGMLLAYSGVQSKKLTAMQRQLKKHFKEGKGLTFQEVENFFTFLKNIN
  DVDTALSFYHMAGASLDKVTMQQVARTVAKVELSDHVCDVVFALFDCDGNGELSNKEFVSIMKQRLMRGLEKPKD
  MGFTRLMQAMWKCAQETAWDFALPKQ

• Structural information:
  • Protein Domains: (218..25-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (408..44-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR039800  
  • Prosite: PS00018 PS50222
  • PDB: 4NSC 4NSD
  • PDBsum: 4NSC 4NSD
  • DIP: 53438
  • STRING: ENSP00000354415
• Other Databases: GeneCards:  MICU1  Malacards:  MICU1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990246	uniplex complex	IDA	cellular component
GO:1990246	uniplex complex	IDA	cellular component
GO:0070509	calcium ion import	IDA	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IDA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0032592	integral component of mitochondrial membrane	IDA	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	IDA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0051560	mitochondrial calcium ion homeostasis	IMP	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IMP	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IMP	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
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:0005743	mitochondrial inner membrane	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0034704	calcium channel complex	ISS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	IMP	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:0005509	calcium ion binding	IEA	molecular function
GO:0006851	mitochondrial calcium ion transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005622	intracellular	TAS	cellular component
GO:0006952	defense response	TAS	biological process
GO:1990246	uniplex complex	IDA	cellular component
GO:0036444	calcium import into the mitochondrion	IMP	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:1900069	regulation of cellular hyperosmotic salinity response	IMP	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq