Human Gene ISCU (ENST00000392807.8) from GENCODE V44
Description: Homo sapiens iron-sulfur cluster assembly enzyme (ISCU), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014301) RefSeq Summary (NM_014301): 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. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]. Gencode Transcript: ENST00000392807.8 Gencode Gene: ENSG00000136003.16 Transcript (Including UTRs) Position: hg38 chr12:108,562,606-108,569,368 Size: 6,763 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr12:108,564,117-108,568,916 Size: 4,800 Coding Exon Count: 5
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.
Pfam Domains: PF01592 - NifU-like N terminal domain
ModBase Predicted Comparative 3D Structure on Q9H1K1
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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
