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] See more...

Aliases for ISCA1 Gene

Aliases for ISCA1 Gene

  • Iron-Sulfur Cluster Assembly 1 2 3 5
  • Iron-Sulfur Cluster Assembly 1 Homolog, Mitochondrial 3 4
  • HESB-Like Domain-Containing Protein 2 3 4
  • Iron-Sulfur Assembly Protein IscA 3 4
  • HESB Like Domain Containing 2 2 3
  • HBLD2 3 4
  • HIscA 3 4
  • Iron-Sulfur Cluster Assembly 1 Homolog (S. Cerevisiae) 2
  • MMDS5 3
  • ISA1 3

External Ids for ISCA1 Gene

Previous HGNC Symbols for ISCA1 Gene

  • HBLD2

Previous GeneCards Identifiers for ISCA1 Gene

  • GC09M088070
  • GC09M088879
  • GC09M058702

Summaries for ISCA1 Gene

Entrez Gene Summary for ISCA1 Gene

  • 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]

GeneCards Summary for ISCA1 Gene

ISCA1 (Iron-Sulfur Cluster Assembly 1) is a Protein Coding gene. Diseases associated with ISCA1 include Multiple Mitochondrial Dysfunctions Syndrome 5 and Multiple Mitochondrial Dysfunctions Syndrome. Gene Ontology (GO) annotations related to this gene include structural molecule activity and iron-sulfur cluster binding. An important paralog of this gene is ISCA2.

UniProtKB/Swiss-Prot Summary for ISCA1 Gene

  • 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.

Gene Wiki entry for ISCA1 Gene

Additional gene information for ISCA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ISCA1 Gene

Genomics for ISCA1 Gene

GeneHancer (GH) Regulatory Elements for ISCA1 Gene

Promoters and enhancers for ISCA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J086280 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.8 801 3.4 ZNF217 EP300 ZSCAN5C SIN3A TCF12 MYC POLR2G SP1 PHF8 TEAD4 ISCA1 GOLM1 C9orf153 GAS1RR RN7SKP264 ENSG00000165121 ENSG00000231741 GAS1 TUT7 piR-42694-170
GH09J086828 Enhancer 0.4 Ensembl 5.1 -546.2 -546199 2.6 MEF2B EBF1 SPI1 ZBTB20 KDM1A ISCA1 HSALNG0072425 piR-40476-084
GH09J086287 Enhancer 0.8 ENCODE 0.7 -4.1 -4119 0.4 CTCF MYC REST ATF2 POLR2A CREB1 CEBPB CEBPG FOS RAD21 C9orf153 ISCA1 piR-50308-653 RF00017-7677
GH09J086284 Enhancer 0.7 ENCODE 0.7 -2.1 -2102 1.3 NCOR1 ZNF592 PBX2 TAL1 STAT5A FOXM1 TCF12 DPF2 MEIS2 MTA2 TUT7 C9orf153 ISCA1 piR-50308-653 RF00017-7677
GH09J086286 Enhancer 0.7 ENCODE 0.7 -3.6 -3562 0.1 MYNN TRIM24 ZNF592 STAT5A TAL1 HDAC2 TCF12 DPF2 RAD21 GABPA ISCA1 piR-50308-653 RF00017-7677
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ISCA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ISCA1

Top Transcription factor binding sites by QIAGEN in the ISCA1 gene promoter:
  • AML1a
  • FOXO4
  • HEN1
  • HOXA9
  • HOXA9B
  • Lmo2
  • Meis-1
  • Meis-1a
  • NF-1
  • NF-1/L

Genomic Locations for ISCA1 Gene

Genomic Locations for ISCA1 Gene
chr9:86,264,546-86,283,102
(GRCh38/hg38)
Size:
18,557 bases
Orientation:
Minus strand
chr9:88,879,461-88,897,676
(GRCh37/hg19)
Size:
18,216 bases
Orientation:
Minus strand

Genomic View for ISCA1 Gene

Genes around ISCA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISCA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISCA1 Gene

Proteins for ISCA1 Gene

  • Protein details for ISCA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUE6-ISCA1_HUMAN
    Recommended name:
    Iron-sulfur cluster assembly 1 homolog, mitochondrial
    Protein Accession:
    Q9BUE6
    Secondary Accessions:
    • B3KP34
    • B4DJI5
    • Q8ND75
    • Q9BZR2

    Protein attributes for ISCA1 Gene

    Size:
    129 amino acids
    Molecular mass:
    14179 Da
    Quaternary structure:
    • Interacts with CRY2, but not with CRY1 (in vitro).
    SequenceCaution:
    • Sequence=AAG59854.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD39021.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ISCA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISCA1 Gene

Post-translational modifications for ISCA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ISCA1 Gene

No data available for DME Specific Peptides for ISCA1 Gene

Domains & Families for ISCA1 Gene

Gene Families for ISCA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ISCA1 Gene

Blocks:
  • Protein of unknown function, HesB/YadR/YfhF
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ISCA1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56350, highly similar to HESB-like domain-containing protein 2, mitochondrial (B4DJI5_HUMAN)
  • Iron-sulfur assembly protein IscA (ISCA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BUE6

UniProtKB/Swiss-Prot:

ISCA1_HUMAN :
  • Belongs to the HesB/IscA family.
Family:
  • Belongs to the HesB/IscA family.
genes like me logo Genes that share domains with ISCA1: view

Function for ISCA1 Gene

Molecular function for ISCA1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ISCA1 Gene

Gene Ontology (GO) - Molecular Function for ISCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
GO:0051537 2 iron, 2 sulfur cluster binding IBA 21873635
genes like me logo Genes that share ontologies with ISCA1: view
genes like me logo Genes that share phenotypes with ISCA1: view

Human Phenotype Ontology for ISCA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ISCA1 Gene

MGI Knock Outs for ISCA1:
  • Isca1 Isca1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ISCA1 Gene

Localization for ISCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISCA1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ISCA1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ISCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ISCA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ISCA1 Gene

Pathways & Interactions for ISCA1 Gene

PathCards logo

SuperPathways for ISCA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ISCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016226 iron-sulfur cluster assembly IBA 21873635
GO:0044281 small molecule metabolic process TAS --
GO:0097428 protein maturation by iron-sulfur cluster transfer IBA,IEA 21873635
genes like me logo Genes that share ontologies with ISCA1: view

No data available for Pathways by source and SIGNOR curated interactions for ISCA1 Gene

Drugs & Compounds for ISCA1 Gene

(1) Drugs for ISCA1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1496
genes like me logo Genes that share compounds with ISCA1: view

Transcripts for ISCA1 Gene

mRNA/cDNA for ISCA1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ISCA1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2:

Relevant External Links for ISCA1 Gene

GeneLoc Exon Structure for
ISCA1

Expression for ISCA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ISCA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ISCA1 Gene

This gene is overexpressed in Ovary (11.0) and Adrenal (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ISCA1 Gene



Protein tissue co-expression partners for ISCA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ISCA1

SOURCE GeneReport for Unigene cluster for ISCA1 Gene:

Hs.449291

mRNA Expression by UniProt/SwissProt for ISCA1 Gene:

Q9BUE6-ISCA1_HUMAN
Tissue specificity: Detected in cerebellum, kidney and heart.

Evidence on tissue expression from TISSUES for ISCA1 Gene

  • Nervous system(5)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with ISCA1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISCA1 Gene

Orthologs for ISCA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ISCA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISCA1 31 30
  • 100 (n)
OneToOne
mouse
(Mus musculus)
Mammalia AK157302 31
  • 96 (a)
OneToMany
Isca1 17 31 30
  • 87.08 (n)
cow
(Bos Taurus)
Mammalia ISCA1 31 30
  • 95.61 (n)
OneToMany
-- 31
  • 63 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ISCA1 31 30
  • 95.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISCA1 31
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isca1 30
  • 85.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ISCA1 31
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISCA1 31 30
  • 83.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISCA1 31
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia isca1 30
  • 76.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9646 30
zebrafish
(Danio rerio)
Actinopterygii isca1 31 30
  • 70.28 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002730 30
  • 67.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0136 31 30
  • 64.48 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y39B6A.3 30
  • 59.88 (n)
Y39B6A.3 31
  • 57 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18150g 30
  • 54.78 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISA1 31
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G16710 30
  • 50.81 (n)
rice
(Oryza sativa)
Liliopsida Os01g0105800 30
  • 55.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5203 31
  • 64 (a)
OneToOne
Species where no ortholog for ISCA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ISCA1 Gene

ENSEMBL:
Gene Tree for ISCA1 (if available)
TreeFam:
Gene Tree for ISCA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ISCA1: view image

Paralogs for ISCA1 Gene

Paralogs for ISCA1 Gene

(1) SIMAP similar genes for ISCA1 Gene using alignment to 4 proteins:

  • ISCA1_HUMAN
  • B4DJI5_HUMAN
  • Q5TBE2_HUMAN
  • Q5TBE9_HUMAN
genes like me logo Genes that share paralogs with ISCA1: view

Variants for ISCA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ISCA1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
695121 Pathogenic: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 86,282,430(-) A/C MISSENSE_VARIANT
rs776679653 Pathogenic: Multiple mitochondrial dysfunctions syndrome; MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5. Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) [MIM:617613] 86,266,174(-) C/Tp.Glu87Lys MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ISCA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ISCA1 Gene

Variant ID Type Subtype PubMed ID
nsv1041191 CNV gain 25217958
nsv972770 CNV duplication 23825009

Variation tolerance for ISCA1 Gene

Residual Variation Intolerance Score: 54.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISCA1 Gene

Human Gene Mutation Database (HGMD)
ISCA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISCA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISCA1 Gene

Disorders for ISCA1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ISCA1 Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ISCA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ISCA1_HUMAN
  • Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) [MIM:617613]: An autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise. {ECO:0000269 PubMed:28356563}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ISCA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ISCA1: view

No data available for Genatlas for ISCA1 Gene

Publications for ISCA1 Gene

  1. hIscA: a protein implicated in the biogenesis of iron-sulfur clusters. (PMID: 15262227) Cózar-Castellano I … Avila J (Biochimica et biophysica acta 2004) 2 3 4 23 54
  2. The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. (PMID: 22323289) Sheftel AD … Lill R (Molecular biology of the cell 2012) 2 3 4 54
  3. Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. (PMID: 28356563) Shukla A … Girisha KM (Journal of human genetics 2017) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for ISCA1 Gene

Sources for ISCA1 Gene