• Gene id: 23479

Gene Summary

• Gene Symbol: ISCU   Gene   UCSC   Ensembl
• Aliases: 2310020H20Rik, HML, ISU2, NIFU, NIFUN, hnifU
• Gene name: iron-sulfur cluster assembly enzyme
• Alternate names: iron-sulfur cluster assembly enzyme ISCU, mitochondrial, IscU iron-sulfur cluster scaffold homolog, nifU-like N-terminal domain-containing protein,
• Gene location: 12q23.3 (108561462: 108569383)     Exons: 8     NC_000012.12
• Gene summary(Entrez): This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response.
• OMIM: 611911

Protein Summary

• Protein general information: Q9H1K1  
  • Name: Iron sulfur cluster assembly enzyme ISCU, mitochondrial (NifU like N terminal domain containing protein) (NifU like protein)
  • Length: 167  
  • Mass: 17999
  • Tissue specificity: Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta. {ECO
• Sequence:

  MAAAGAFRLRRAASALLLRSPRLPARELSAPARLYHKKVVDHYENPRNVGSLDKTSKNVGTGLVGAPACGDVMKL
  QIQVDEKGKIVDARFKTFGCGSAIASSSLATEWVKGKTVEEALTIKNTDIAKELCLPPVKLHCSMLAEDAIKAAL
  ADYKLKQEPKKGEAEKK

• Structural information:
  • Interpro: IPR011339  IPR002871  
  • CDD: cd06664
  • PDB: 5KZ5 5WKP 5WLW 6NZU 6UXE
  • PDBsum: 5KZ5 5WKP 5WLW 6NZU 6UXE
  • DIP: 39616
  • STRING: ENSP00000310623
• Other Databases: GeneCards:  ISCU  Malacards:  ISCU

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904439	negative regulation of iron ion import across plasma membrane	IMP	biological process
GO:1904234	positive regulation of aconitate hydratase activity	IMP	biological process
GO:1902958	positive regulation of mitochondrial electron transport, NADH to ubiquinone	IMP	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0008198	ferrous iron binding	IBA	molecular function
GO:0051537	2 iron, 2 sulfur cluster binding	IBA	molecular function
GO:0006879	cellular iron ion homeostasis	IBA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IBA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0016226	iron-sulfur cluster assembly	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0044281	small molecule metabolic process	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
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
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
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016226	iron-sulfur cluster assembly	TAS	biological process
GO:0005506	iron ion binding	TAS	molecular function

Diseases

Associated diseases	References
Myopathy with lactic acidosis and sideroblastic anaemia	KEGG:H00898
Myopathy with lactic acidosis and sideroblastic anaemia	KEGG:H00898
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray