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Gene Gene information from NCBI Gene database.
Entrez ID 81689
Gene name Iron-sulfur cluster assembly 1
Gene symbol ISCA1
Synonyms (NCBI Gene)
HBLD2ISA1MMDS5hIscAhIscA1
Chromosome 9
Chromosome location 9q21.33
Summary ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs776679653 C>T Pathogenic Coding sequence variant, missense variant
rs1587823007 A>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
262 Show/Hide all (262)
miRTarBase ID miRNA Experiments Reference
MIRT047223 hsa-miR-181c-5p CLASH 23622248
MIRT563453 hsa-miR-4311 PAR-CLIP 20371350
MIRT563452 hsa-miR-1276 PAR-CLIP 20371350
MIRT563451 hsa-miR-583 PAR-CLIP 20371350
MIRT563449 hsa-miR-6499-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13 Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25347204, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611006 28660 ENSG00000135070
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BUE6
Protein name Iron-sulfur cluster assembly 1 homolog, mitochondrial (HESB-like domain-containing protein 2) (Iron-sulfur assembly protein IscA) (hIscA)
Protein function Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly. {ECO:0000269|PubMed:15262227, ECO:0000269|Pub
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01521 Fe-S_biosyn 23 → 125 Iron-sulphur cluster biosynthesis Family
Tissue specificity TISSUE SPECIFICITY: Detected in cerebellum, kidney and heart. {ECO:0000269|PubMed:15262227}.
Sequence
Sequence length 129
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Mitochondrial iron-sulfur cluster biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple mitochondrial dysfunctions syndrome 5 Pathogenic rs1587823007 RCV000857321
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Fatal multiple mitochondrial dysfunctions syndrome Conflicting classifications of pathogenicity ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ISCA1-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (18)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 36072584 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36385109 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Developmental regression Developmental regression HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukodystrophy Leukodystrophy CLINVAR_DG 28356563
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukodystrophy Leukodystrophy BEFREE 29767723
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukodystrophy Leukodystrophy HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 28356563 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Multiple Mitochondrial Dysfunctions Syndrome Multiple Mitochondrial Dysfunctions Syndrome BEFREE 28356563
★★★★★
★☆☆☆☆
Found in Text Mining only