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
372251082023Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins.2
372251082023Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins.2
335624932021Characterization and Reconstitution of Human Lipoyl Synthase (LIAS) Supports ISCA2 and ISCU as Primary Cluster Donors and an Ordered Mechanism of Cluster Assembly.11
348242392021N-terminal tyrosine of ISCU2 triggers [2Fe-2S] cluster synthesis by ISCU2 dimerization.11
335624932021Characterization and Reconstitution of Human Lipoyl Synthase (LIAS) Supports ISCA2 and ISCU as Primary Cluster Donors and an Ordered Mechanism of Cluster Assembly.11
348242392021N-terminal tyrosine of ISCU2 triggers [2Fe-2S] cluster synthesis by ISCU2 dimerization.11
324951702020rs2072580T>A Polymorphism in the Overlapping Promoter Regions of the SART3 and ISCU Genes Associated with the Risk of Breast Cancer.0
324951702020rs2072580T>A Polymorphism in the Overlapping Promoter Regions of the SART3 and ISCU Genes Associated with the Risk of Breast Cancer.0
311018072019Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.62
311018072019Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.62
294067112018ISCU(M108I) and ISCU(D39V) Differ from Wild-Type ISCU in Their Failure To Form Cysteine Desulfurase Complexes Containing Both Frataxin and Ferredoxin.11
300318762018Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity.11
294067112018ISCU(M108I) and ISCU(D39V) Differ from Wild-Type ISCU in Their Failure To Form Cysteine Desulfurase Complexes Containing Both Frataxin and Ferredoxin.11
300318762018Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity.11
282718772017The N-Terminus of Iron-Sulfur Cluster Assembly Factor ISD11 Is Crucial for Subcellular Targeting and Interaction with l-Cysteine Desulfurase NFS1.9

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-(iron-sulfur-cluster-assembly-enzyme)