ID:ISCU_HUMAN DESCRIPTION: RecName: Full=Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; AltName: Full=NifU-like N-terminal domain-containing protein; AltName: Full=NifU-like protein; Flags: Precursor; FUNCTION: Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron. SUBUNIT: Binds NFS1. Interacts with HSCB. SUBCELLULAR LOCATION: Isoform 1: Mitochondrion. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus. TISSUE SPECIFICITY: Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta. DISEASE: Defects in ISCU are the cause of myopathy with exercise intolerance Swedish type (MEIS) [MIM:255125]; also known as myopathy with deficiency of succinate dehydrogenase and aconitase or myoglobinuria due to abnormal glycolysis or hereditary myopathy with lactic acidosis (HML). This autosomal recessive metabolic disease is characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. SIMILARITY: Belongs to the NifU family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ISCU";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H1K1
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006879 cellular iron ion homeostasis GO:0016226 iron-sulfur cluster assembly GO:0044281 small molecule metabolic process GO:0097428 protein maturation by iron-sulfur cluster transfer
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
