ISCU

ISCU
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1WFZ
Identifiers
Aliases	ISCU, 2310020H20Rik, HML, ISU2, NIFU, NIFUN, hnifU, iron-sulfur cluster assembly enzyme
External IDs	OMIM: 611911; MGI: 1913633; HomoloGene: 6991; GeneCards: ISCU; OMA:ISCU - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	108,569,368 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	113,916,349 bp
RNA expression pattern
	Top expressed in
	right ventricle; ; Pons; ; renal medulla; ; superior vestibular nucleus; ; pars compacta; ; external globus pallidus; ; right adrenal cortex; ; myocardium; ; left adrenal cortex; ; pars reticulata;
	Top expressed in
	adrenal gland; ; proximal tubule; ; right kidney; ; bone marrow; ; human kidney; ; white adipose tissue; ; muscle tissue; ; muscle of thigh; ; quadriceps femoris muscle; ; skeletal muscle tissue;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	iron ion binding; molecular adaptor activity; 4 iron, 4 sulfur cluster binding; iron-sulfur cluster binding; ferrous iron binding; protein binding; metal ion binding; iron-sulfur transferase activity; 2 iron, 2 sulfur cluster binding;
Cellular component	cytoplasm; cytosol; mitochondrial matrix; mitochondrion; nucleus;
Biological process	protein maturation by iron-sulfur cluster transfer; small molecule metabolic process; iron-sulfur cluster assembly; cellular iron ion homeostasis; positive regulation of mitochondrial electron transport, NADH to ubiquinone; positive regulation of aconitate hydratase activity; negative regulation of iron ion import across plasma membrane;
	Sources:Amigo / QuickGO
Orthologs
	23479
	66383
	ENSG00000136003
	ENSMUSG00000025825
	Q9H1K1
	Q9D7P6
	NM_001301140; NM_001301141; NM_014301; NM_213595; NM_001320042
	NM_025526; NM_001363317
	NP_001288069; NP_001288070; NP_001306971; NP_055116; NP_998760
	NP_079802; NP_001350246
	Wikidata
View/Edit Human	View/Edit Mouse

Iron-sulfur cluster assembly enzyme ISCU, mitochondrial is a protein that in humans is encoded by the ISCU gene. It encodes an iron-sulfur (Fe-S) cluster scaffold protein involved in [2Fe-2S] and [4Fe-4S] cluster synthesis and maturation. 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.