Property Summary

NCBI Gene PubMed Count 43
PubMed Score 157.76
PubTator Score 62.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
astrocytic glioma -1.100 3.8e-02
medulloblastoma, large-cell -1.700 9.8e-06
ovarian cancer -2.000 1.4e-07

Gene RIF (27)

PMID Text
26560363 ISCU expression was decreased in the majority of human liver cancer tissues, and its reduced expression was significantly associated with p53 mutation.
26016389 The core Fe-S biosynthetic enzymatic complex generated [2Fe-2S] cluster intermediates that converted to stable [2Fe-2S] clusters bound to uncomplexed ISCU2.
25825391 Thus, driven by acquired (hypoxia) or genetic causes, the miR-210-ISCU1/2 regulatory axis is a pathogenic lynchpin causing iron-sulfur deficiency and pulmonary hypertension.
25204651 IscU is a new substrate of MK2 both in Drosophila cells and in human cells
24971490 Fe-S assembly protein (ISCU2) and frataxin convert substrates l-cysteine, ferrous iron, and electrons into Fe-S clusters.
24573684 the G50E iron-sulfur cluster scaffold protein (ISCU) mutation has a role in mitochondrial myopathy
23940031 NFS1 binds preferentially to the D-state of ISCU while mtHSP70 binds preferentially to the D-state of ISCU and HSC20 binds preferentially to the S-state of ISCU.
23508953 mTORC1 associates with ISCU and phosphorylates ISCU at serine 14. This phosphorylation stabilized ISCU protein.
23449350 MicroRNA-210 correlates negatively with its gene target ISCU at the protein and mRNA level. MicroRNA-210 correlated with positive outcome variables
23035118 ISCU protein deficiency in patients results from muscle-specific mis-splicing and oxidative stress.
22977270 this study unveiled a signaling axis of HIF-1alpha/miRNA-210/iron-sulfur cluster scaffold protein in a subset of head and neck paragangliomas that could have an impact on SDHB protein stability by a mechanism independent of succinate dehydrogenase mutations
22897349 Photoreactive heterotrifunctional chemical cross-linking confirmed the interaction between frataxin and ISCU in the presence of iron and validated that transient interactions can be covalently trapped with this method.
22125086 The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1.
21801864 iron-sulfur cluster scaffold homologue down-regulation by miR-210 perturbing trophoblast iron metabolism is associated with defective placentation
21437321 Exchange of [2Fe-2S] centers between glutaredoxin 2 and the cluster scaffold protein ISU, supports a direct link for glutaredoxin 2 and glutathione involvement in ISU promoted Fe-S cluster biosynthesis.
21165651 Data show that the highest level of incorrectly spliced ISCU mRNA was found in skeletal muscle.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20498629 ISCU and COX10 are target genes of miR-210 related to mitochondrial metabolism
20436681 miR-210 mediates a new mechanism of adaptation to hypoxia, by regulating mitochondrial function via iron-sulfur cluster metabolism and free radical generation
19808020 Results identify the iron-sulfur cluster assembly proteins (ISCU1/2) as direct targets for repression by the hypoxia-induced microRNA-210.
19567699 a new ISCU mutation in iron-sulphur cluster deficiency myopathy
18425540 the iron-dependent binding affinity of each frataxin derivative to the iron-sulfur cluster scaffold protein ISU is found to be similar to that of native frataxin
18304497 Gene ISCU was identified as a candidate within a region of shared homozygosity among patients with myopathy with severe exercise intolerance and myoglobinuria.
18296749 Intron mutation in the ISCU gene, leading to incorrectly spliced mRNA, is the cause of myopathy with lactic acidosis in this family.
16527810 the cytosolic form of ISCS is a functional cysteine desulfurase that can collaborate with cytosolic ISCU to promote de novo iron-sulfur cluster formation
16517407 Functional analysis of the mitochondrial and cytosolic isoforms of the human Fe-S cluster scaffold protein, ISCU.
16091420 Data suggest that frataxin may be involved in the biosynthesis of iron-sulphur proteins such as IscU1 not only within the mitochondria, but also in the extramitochondrial compartment.

AA Sequence

MAAAGAFRLRRAASALLLRSPRLPARELSAPARLYHKKVVDHYENPRNVGSLDKTSKNVGTGLVGAPACG      1 - 70
DVMKLQIQVDEKGKIVDARFKTFGCGSAIASSSLATEWVKGKTVEEALTIKNTDIAKELCLPPVKLHCSM     71 - 140
LAEDAIKAALADYKLKQEPKKGEAEKK                                               141 - 167
//

Text Mined References (50)

PMID Year Title
26560363 2015 Regulation of iron homeostasis by the p53-ISCU pathway.
26100117 2016 Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein.
26016389 2015 The Human Iron-Sulfur Assembly Complex Catalyzes the Synthesis of [2Fe-2S] Clusters on ISCU2 That Can Be Transferred to Acceptor Molecules.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25825391 2015 Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.
25416956 2014 A proteome-scale map of the human interactome network.
25245479 2015 Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.
25204651 2014 The p38 pathway regulates oxidative stress tolerance by phosphorylation of mitochondrial protein IscU.
24971490 2014 Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24573684 2014 The presence of multiple cellular defects associated with a novel G50E iron-sulfur cluster scaffold protein (ISCU) mutation leads to development of mitochondrial myopathy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23940031 2013 Human mitochondrial chaperone (mtHSP70) and cysteine desulfurase (NFS1) bind preferentially to the disordered conformation, whereas co-chaperone (HSC20) binds to the structured conformation of the iron-sulfur cluster scaffold protein (ISCU).
23508953 2013 Mammalian target of rapamycin complex 1 (mTORC1)-mediated phosphorylation stabilizes ISCU protein: implications for iron metabolism.
23449350 2013 miR-210 is a target of hypoxia-inducible factors 1 and 2 in renal cancer, regulates ISCU and correlates with good prognosis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23035118 2012 Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.
22977270 2012 Identification of a signaling axis HIF-1?/microRNA-210/ISCU independent of SDH mutation that defines a subgroup of head and neck paragangliomas.
22897349 2012 Heterotrifunctional chemical cross-linking mass spectrometry confirms physical interaction between human frataxin and ISU.
22125086 2012 The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1.
21801864 2011 miR-210 targets iron-sulfur cluster scaffold homologue in human trophoblast cell lines: siderosis of interstitial trophoblasts as a novel pathology of preterm preeclampsia and small-for-gestational-age pregnancies.
21437321 2011 Mechanism of glutaredoxin-ISU [2Fe-2S] cluster exchange.
21269460 2011 Initial characterization of the human central proteome.
21165651 2011 Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20668094 2010 Characterization of the human HSC20, an unusual DnaJ type III protein, involved in iron-sulfur cluster biogenesis.
20498629 2010 Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression.
20436681 2010 MicroRNA-210 regulates mitochondrial free radical response to hypoxia and krebs cycle in cancer cells by targeting iron sulfur cluster protein ISCU.
20206689 2010 Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19846308 2009 Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy.
19808020 2009 MicroRNA-210 controls mitochondrial metabolism during hypoxia by repressing the iron-sulfur cluster assembly proteins ISCU1/2.
19567699 2009 Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18425540 2008 Mapping iron binding sites on human frataxin: implications for cluster assembly on the ISU Fe-S cluster scaffold protein.
18304497 2008 Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
18296749 2008 Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.
16541075 2006 The finished DNA sequence of human chromosome 12.
16527810 2006 Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly.
16517407 2006 Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16091420 2005 Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11060020 2000 Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells.
8875867 1996 A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution.