ISCU (iron-sulfur cluster assembly enzyme)

2014-06-01  

Identity

HGNC
LOCATION
12q23.3
LOCUSID
ALIAS
2310020H20Rik,HML,ISU2,NIFU,NIFUN,hnifU
FUSION GENES

Other Information

Locus ID:

NCBI: 23479
MIM: 611911
HGNC: 29882
Ensembl: ENSG00000136003

Variants:

dbSNP: 23479
ClinVar: 23479
TCGA: ENSG00000136003
COSMIC: ISCU

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136003ENST00000311893Q9H1K1
ENSG00000136003ENST00000392807Q9H1K1
ENSG00000136003ENST00000392807A0A024RBI3
ENSG00000136003ENST00000431221B3KQ30
ENSG00000136003ENST00000535729B4DNC9
ENSG00000136003ENST00000539580F5H672
ENSG00000136003ENST00000539593F5H5N2
ENSG00000136003ENST00000547005B4DNC9

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Mitochondrial iron-sulfur cluster biogenesisREACTOMER-HSA-1362409

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198080202009MicroRNA-210 controls mitochondrial metabolism during hypoxia by repressing the iron-sulfur cluster assembly proteins ISCU1/2.249
204986292010Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression.135
165174072006Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis.120
204366812010MicroRNA-210 regulates mitochondrial free radical response to hypoxia and krebs cycle in cancer cells by targeting iron sulfur cluster protein ISCU.114
183044972008Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.74
234493502013miR-210 is a target of hypoxia-inducible factors 1 and 2 in renal cancer, regulates ISCU and correlates with good prognosis.56
258253912015Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.55
249714902014Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.53
218018642011miR-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.50
182967492008Myopathy 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.47

Citation

Dessen P

ISCU (iron-sulfur cluster assembly enzyme)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53990/iscu