• Gene id: 91689

Gene Summary

• Gene Symbol: SMDT1   Gene   UCSC   Ensembl
• Aliases: C22orf32, DDDD, EMRE
• Gene name: single-pass membrane protein with aspartate rich tail 1
• Alternate names: essential MCU regulator, mitochondrial, UPF0466 protein C22orf32, mitochondrial, single-pass membrane protein with aspartate-rich tail 1, mitochondrial,
• Gene location: 22q13.2 (42079690: 42084283)     Exons: 5     NC_000022.11
• Gene summary(Entrez): This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]
• OMIM: 615588

Protein Summary

• Protein general information: Q9H4I9  
  • Name: Essential MCU regulator, mitochondrial (Single pass membrane protein with aspartate rich tail 1, mitochondrial)
  • Length: 107  
  • Mass: 11441
• Sequence:

  MASGAARWLVLAPVRSGALRSGPSLRKDGDVSAAWSGSGRSLVPSRSVIVTRSGAILPKPVKMSFGLLRVFSIVI
  PFLYVGTLISKNFAALLEEHDIFVPEDDDDDD

• Structural information:
  • Interpro: IPR018782  
  • PDB: 6O58 6O5B
  • PDBsum: 6O58 6O5B
  • STRING: ENSP00000327467
• Other Databases: GeneCards:  SMDT1  Malacards:  SMDT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051560	mitochondrial calcium ion homeostasis	IBA	biological process
GO:1990246	uniplex complex	IBA	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	IBA	biological process
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0036444	calcium import into the mitochondrion	IBA	biological process
GO:1990246	uniplex complex	IDA	cellular component
GO:1990246	uniplex complex	IDA	cellular component
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0031305	integral component of 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006851	mitochondrial calcium ion transmembrane transport	IMP	biological process
GO:0036444	calcium import into the mitochondrion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
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:0036444	calcium import into the mitochondrion	IMP	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	IMP	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:1990246	uniplex complex	IEA	cellular component
GO:0036444	calcium import into the mitochondrion	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
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:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

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