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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ISCA1
iron-sulfur cluster assembly 1
Chromosome 9 Β· 9q21.33
NCBI Gene: 81689Ensembl: ENSG00000135070.15HGNC: HGNC:28660UniProt: Q9BUE6
43PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein maturationprotein bindingmitochondrionmitochondrial [4Fe-4S] assembly complexFatal multiple mitochondrial dysfunction syndromeneurodegenerative diseasefatal multiple mitochondrial dysfunctions syndromeFatal multiple mitochondrial dysfunction syndrome type 2
✦AI Summary

ISCA1 (iron-sulfur cluster assembly 1) is a mitochondrial protein that orchestrates the late-stage maturation of [4Fe-4S] iron-sulfur clusters in mitochondrial proteins 1. ISCA1 functions as a central coordinator by binding both ISCA2 and NFU1, facilitating formation of a transient ternary complex that safely transfers [4Fe-4S] clusters from their assembly site to recipient apo proteins 1. This process is essential for activating critical mitochondrial enzymes including aconitase, respiratory complex I, and lipoic acid synthase; depletion of ISCA1 causes swollen mitochondria with diminished cristae membranes and reduced [4Fe-4S] enzyme activity 2. While primarily mitochondrial, ISCA1 also localizes to the cytosol where it interacts with IOP1/NARFL to support cytosolic iron-sulfur protein biogenesis 3. Clinically, ISCA1 mutations cause Multiple Mitochondrial Dysfunction Syndrome 5 (MMDS5), a rare disease characterized by neurological deterioration, seizures, and energy depletion 4. Neuron-specific Isca1 knockout rats developed developmental retardation, neuronal death, mitochondrial fragmentation, and reduced ATP production, providing a disease model extending the therapeutic window 4. Emerging evidence suggests ISCA1 expression correlates with cancer progression and immune checkpoint markers in various malignancies, particularly bladder and thyroid carcinomas, indicating potential prognostic utility 56.

Sources cited
1
ISCA1 orchestrates ISCA2 and NFU1 to mature [4Fe-4S] proteins by forming a ternary complex and directing cluster transfer
PMID: 33711344
2
ISCA1, ISCA2, and IBA57 are required specifically for mitochondrial [4Fe-4S] protein maturation; their depletion causes mitochondrial dysfunction and reduced [4Fe-4S] enzyme activity
PMID: 22323289
3
ISCA1 functions in both mitochondrial and cytosolic iron-sulfur cluster biogenesis and interacts with cytosolic IOP1/NARFL
PMID: 19864422
4
Neuron-specific Isca1 knockout causes MMDS5 pathology with neuronal death, seizures, mitochondrial fragmentation, and reduced ATP production
PMID: 37140997
5
ISCA1 correlates with ferroptosis-related genes and serves as a biomarker for thyroid carcinoma prognosis and immunotherapy response
PMID: 39766805
6
ISCA1 expression correlates with immune checkpoints and is a prognostic marker across cancers, particularly bladder cancer
PMID: 36072584
7
NFU1 structural plasticity is modulated during [4Fe-4S] cluster transfer from ISCA1-ISCA2 assembly complex to recipient proteins
PMID: 37211204
Disease Associationsβ“˜21
Fatal multiple mitochondrial dysfunction syndromeOpen Targets
0.71Strong
neurodegenerative diseaseOpen Targets
0.51Moderate
fatal multiple mitochondrial dysfunctions syndromeOpen Targets
0.34Weak
Fatal multiple mitochondrial dysfunction syndrome type 2Open Targets
0.33Weak
atrial fibrillationOpen Targets
0.30Weak
Alzheimer diseaseOpen Targets
0.16Weak
Parkinson diseaseOpen Targets
0.16Weak
lysosomal storage diseaseOpen Targets
0.16Weak
multiple sclerosisOpen Targets
0.16Weak
mathematical abilityOpen Targets
0.12Weak
cancerOpen Targets
0.08Suggestive
Sjogren syndromeOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
open-angle glaucomaOpen Targets
0.05Suggestive
glaucomaOpen Targets
0.05Suggestive
bladder transitional cell carcinomaOpen Targets
0.05Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
tympanic membrane perforationOpen Targets
0.03Suggestive
psoriatic arthritisOpen Targets
0.03Suggestive
pericarditisOpen Targets
0.03Suggestive
Multiple mitochondrial dysfunctions syndrome 5UniProt
Pathogenic Variants1
NM_030940.4(ISCA1):c.29T>G (p.Val10Gly)Pathogenic
Multiple mitochondrial dysfunctions syndrome 5
β˜†β˜†β˜†β˜†2020β†’ Residue 10
View on ClinVar β†—
Related Genes
CIAO1Shared pathway100%MMS19Shared pathway100%CIAO2AShared pathway100%BOLA1Protein interaction98%SCLYProtein interaction98%GLRXProtein interaction96%
Tissue Expression6 tissues
Brain
100%
Heart
93%
Bone Marrow
84%
Liver
40%
Ovary
37%
Lung
28%
Gene Interaction Network
Click a node to explore
ISCA1CIAO1MMS19CIAO2ABOLA1SCLYGLRX
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BUE6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.78LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.97 [0.50–1.78]
RankingsWhere ISCA1 stands among ~20K protein-coding genes
  • #9,746of 20,598
    Most Researched43
  • #5,145of 5,498
    Most Pathogenic Variants1
  • #16,499of 17,882
    Most Constrained (LOEUF)1.78
Genes detectedISCA1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human Mitochondrial [4Fe-4S] Proteins.
PMID: 33711344
J Mol Biol Β· 2021
1.00
2
The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
PMID: 22323289
Mol Biol Cell Β· 2012
0.90
3
Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis.
PMID: 19864422
J Biol Chem Β· 2009
0.80
4
Comprehensive Analysis Reveals That ISCA1 Is Correlated with Ferroptosis-Related Genes Across Cancers and Is a Biomarker in Thyroid Carcinoma.
PMID: 39766805
Genes (Basel) Β· 2024
0.70
5
A neuron-specific Isca1 knockout rat developments multiple mitochondrial dysfunction syndromes.
PMID: 37140997
Animal Model Exp Med Β· 2023
0.60