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    ISCA1 iron-sulfur cluster assembly 1 [ Homo sapiens (human) ]

    Gene ID: 81689, updated on 28-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins.

    Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins.
    Du J, Huang Z, Li Y, Ren X, Zhou C, Liu R, Zhang P, Lei G, Lyu J, Li J, Tan G.

    06/22/2023
    Identification of ISCA1 as novel immunological and prognostic biomarker for bladder cancer.

    Identification of ISCA1 as novel immunological and prognostic biomarker for bladder cancer.
    Zhou R, Peng N, Li W., Free PMC Article

    09/17/2022
    ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human Mitochondrial [4Fe-4S] Proteins.

    ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human Mitochondrial [4Fe-4S] Proteins.
    Suraci D, Saudino G, Nasta V, Ciofi-Baffoni S, Banci L.

    06/19/2021
    Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.

    Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.
    Lebigot E, Hully M, Amazit L, Gaignard P, Michel T, Rio M, Lombès M, Thérond P, Boutron A, Golinelli-Cohen MP.

    06/12/2021
    hHmozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

    A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
    Finsterer J, Zarrouk-Mahjoub S.

    08/31/2019
    the phenotype observed in all affected subjects with the ISCA1 pathogenic variant is similar to that previously described in all four types of multiple mitochondrial dysfunctions syndromes.

    Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
    Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM., Free PMC Article

    03/31/2018
    The structural plasticity of the dimeric state of the [2Fe-2S] bound form of human GRX5 is the crucial factor that allows an efficient cluster transfer to the partner proteins human ISCA1 and ISCA2 by a specific protein-protein recognition mechanism.

    [2Fe-2S] cluster transfer in iron-sulfur protein biogenesis.
    Banci L, Brancaccio D, Ciofi-Baffoni S, Del Conte R, Gadepalli R, Mikolajczyk M, Neri S, Piccioli M, Winkelmann J., Free PMC Article

    06/28/2014
    The data presented here show that the Isu1 suppressor mimics the frataxin effects on Nfs1, explaining the bypassing activity.

    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.
    Pandey A, Gordon DM, Pain J, Stemmler TL, Dancis A, Pain D., Free PMC Article

    02/22/2014
    ISCA1, ISCA2, and IBA57 were depleted by RNA interference. Depleted cells contained massively swollen and enlarged mitochondria that were virtually devoid of cristae membranes, demonstrating the importance of these proteins for mitochondrial biogenesis.

    The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
    Sheftel AD, Wilbrecht C, Stehling O, Niggemeyer B, Elsässer HP, Mühlenhoff U, Lill R., Free PMC Article

    09/15/2012
    Observational study of gene-disease association. (HuGE Navigator)

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article

    12/5/2010
    Iron-binding activity of human iron-sulfur cluster assembly protein hIscA1

    Iron-binding activity of human iron-sulfur cluster assembly protein hIscA1.
    Lu J, Bitoun JP, Tan G, Wang W, Min W, Ding H., Free PMC Article

    06/28/2010
    human IscA1 plays an important role in both mitochondrial and cytosolic iron-sulfur cluster biogenesis, and a notable component of the latter is the interaction between IscA1 and IOP1.

    Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis.
    Song D, Tu Z, Lee FS., Free PMC Article

    01/21/2010
    Required for functional heme biosynthesis in erythroid cells.

    Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.
    Nilsson R, Schultz IJ, Pierce EL, Soltis KA, Naranuntarat A, Ward DM, Baughman JM, Paradkar PN, Kingsley PD, Culotta VC, Kaplan J, Palis J, Paw BH, Mootha VK., Free PMC Article

    09/28/2009
    screening a human brain cDNA expression library with serum from a patient suffering from the autoimmune Sjogren's syndrome yielded a gene product called hIscA implicated in iron-sulfur cluster biogenesis

    hIscA: a protein implicated in the biogenesis of iron-sulfur clusters.
    Cózar-Castellano I, del Valle Machargo M, Trujillo E, Arteaga MF, González T, Martín-Vasallo P, Avila J.

    01/21/2010
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