ISCU

Iron-sulfur cluster assembly enzyme
PDB rendering based on 1wfz.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1wfz​
Identifiers
Symbols	ISCU ; 2310020H20Rik; HML; ISU2; NIFU; NIFUN; hnifU
External IDs	OMIM: 611911 MGI: 1913633 HomoloGene: 6991 GeneCards: ISCU Gene
Gene ontology Molecular function • iron ion binding • protein binding • ferrous iron binding • protein complex scaffold • iron-sulfur transferase activity • 2 iron, 2 sulfur cluster binding • 4 iron, 4 sulfur cluster binding Cellular component • nucleus • cytoplasm • mitochondrion • mitochondrial matrix • cytosol Biological process • cellular iron ion homeostasis • nitrogen fixation • iron-sulfur cluster assembly • small molecule metabolic process • [2Fe-2S cluster assembly] • protein maturation by iron-sulfur cluster transfer Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23479	66383
Ensembl	ENSG00000136003	ENSMUSG00000025825
UniProt	Q9H1K1	Q9D7P6
RefSeq (mRNA)	NM_001301140	NM_025526
RefSeq (protein)	NP_001288069	NP_079802
Location (UCSC)	Chr 12: 108.56 – 108.57 Mb	Chr 5: 113.77 – 113.78 Mb
PubMed search

Iron-sulfur cluster assembly enzyme ISCU, mitochondrial is a protein that in humans is encoded by the ISCU gene.^[1][2][3]

A deficiency of ISCU is associated with a mitochondrial myopathy with lifelong exercise intolerance where only minor exertion causes tachycardia, shortness of breath, muscle weakness and myalgia.^[4]

References

1. Hwang DM, Dempsey A, Tan KT, Liew CC (Nov 1996). "A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution". Journal of Molecular Evolution 43 (5): 536–40. doi:10.1007/BF02337525. PMID 8875867.
2. Tong WH, Rouault T (Nov 2000). "Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells". The EMBO Journal 19 (21): 5692–700. doi:10.1093/emboj/19.21.5692. PMC 305809. PMID 11060020.
3. "Entrez Gene: ISCU iron-sulfur cluster scaffold homolog (E. coli)".
4. Mochel F, Haller RG (2009-03-31). "Myopathy with Deficiency of ISCU". GeneReviews. Updated 2011 Sep 1

Further reading

• Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG (Mar 2008). "Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance". American Journal of Human Genetics 82 (3): 652–60. doi:10.1016/j.ajhg.2007.12.012. PMC 2427212. PMID 18304497.
• Li K, Tong WH, Hughes RM, Rouault TA (May 2006). "Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly". The Journal of Biological Chemistry 281 (18): 12344–51. doi:10.1074/jbc.M600582200. PMID 16527810.
• Tong WH, Rouault TA (Mar 2006). "Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis". Cell Metabolism 3 (3): 199–210. doi:10.1016/j.cmet.2006.02.003. PMID 16517407.
• Acquaviva F, De Biase I, Nezi L, Ruggiero G, Tatangelo F, Pisano C, Monticelli A, Garbi C, Acquaviva AM, Cocozza S (Sep 2005). "Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2". Journal of Cell Science 118 (Pt 17): 3917–24. doi:10.1242/jcs.02516. PMID 16091420.
• Benzinger A, Muster N, Koch HB, Yates JR, Hermeking H (Jun 2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Molecular & Cellular Proteomics 4 (6): 785–95. doi:10.1074/mcp.M500021-MCP200. PMID 15778465.

External links

• GeneReviews/NCBI/NIH/UW entry on Myopathy with Deficiency of ISCU
• GeneReviews/NIH/NCBI/UW entry on Myopathy with Deficiency of ISCU