Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 81689
MIM: 611006
HGNC: 28660
Ensembl: ENSG00000135070
Variants:
dbSNP: 81689
ClinVar: 81689
TCGA: ENSG00000135070
COSMIC: ISCA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000135070 | ENST00000311534 | Q5TBE2 |
| ENSG00000135070 | ENST00000326094 | Q5TBE9 |
| ENSG00000135070 | ENST00000375991 | Q9BUE6 |
| ENSG00000135070 | ENST00000637705 | A0A1B0GTK6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37225108 | 2023 | Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins. | 2 |
| 37225108 | 2023 | Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins. | 2 |
| 36072584 | 2022 | Identification of ISCA1 as novel immunological and prognostic biomarker for bladder cancer. | 0 |
| 36072584 | 2022 | Identification of ISCA1 as novel immunological and prognostic biomarker for bladder cancer. | 0 |
| 33711344 | 2021 | ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human Mitochondrial [4Fe-4S] Proteins. | 6 |
| 33711344 | 2021 | ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human Mitochondrial [4Fe-4S] Proteins. | 6 |
| 32092383 | 2020 | Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein. | 6 |
| 32092383 | 2020 | Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein. | 6 |
| 28356563 | 2017 | Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. | 35 |
| 28615675 | 2017 | A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. | 2 |
| 28356563 | 2017 | Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. | 35 |
| 28615675 | 2017 | A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. | 2 |
| 24733926 | 2014 | [2Fe-2S] cluster transfer in iron-sulfur protein biogenesis. | 58 |
| 24733926 | 2014 | [2Fe-2S] cluster transfer in iron-sulfur protein biogenesis. | 58 |
| 24217246 | 2013 | Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly. | 55 |
Citation
Dessen P
ISCA1 (iron-sulfur cluster assembly 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64667/isca1-(iron-sulfur-cluster-assembly-1)
