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Aliases for ISCA1 Gene

Aliases for ISCA1 Gene

  • Iron-Sulfur Cluster Assembly 1 2 3
  • 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
  • Iron Sulfur Assembly Protein IscA 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. GO annotations related to this gene include structural molecule activity and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISCA1 Gene

Genomics for ISCA1 Gene

Regulatory Elements for ISCA1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ISCA1 Gene

Chromosome:
9
Start:
86,264,546 bp from pter
End:
86,282,575 bp from pter
Size:
18,030 bases
Orientation:
Minus strand

Genomic View for ISCA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    No Data Available
    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

Proteomics data for ISCA1 Gene at MOPED

Post-translational modifications for ISCA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ISCA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISCA1 Gene

Domains & Families for ISCA1 Gene

Suggested Antigen Peptide Sequences for ISCA1 Gene

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

No data available for Gene Families for ISCA1 Gene

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.

Gene Ontology (GO) - Molecular Function for ISCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0008198 ferrous iron binding IBA --
GO:0051536 iron-sulfur cluster binding --
GO:0051537 2 iron, 2 sulfur cluster binding IBA --
GO:0051539 4 iron, 4 sulfur cluster binding IBA --
genes like me logo Genes that share ontologies with ISCA1: view

Phenotypes for ISCA1 Gene

genes like me logo Genes that share phenotypes with ISCA1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ISCA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for ISCA1 Gene COMPARTMENTS Subcellular localization image for ISCA1 gene
Compartment Confidence
mitochondrion 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ISCA1 Gene

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

Pathways & Interactions for ISCA1 Gene

SuperPathways for ISCA1 Gene

No Data Available

Interacting Proteins for ISCA1 Gene

Gene Ontology (GO) - Biological Process for ISCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006790 sulfur compound metabolic process IBA --
GO:0016226 iron-sulfur cluster assembly IBA --
GO:0097428 protein maturation by iron-sulfur cluster transfer IBA --
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) Additional Compounds for ISCA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with ISCA1: view

Transcripts for ISCA1 Gene

mRNA/cDNA for ISCA1 Gene

Unigene Clusters for ISCA1 Gene

Iron-sulfur cluster assembly 1 homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ISCA1

Flow Cytometry 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
ECgene alternative splicing isoforms for
ISCA1

Expression for ISCA1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ISCA1 Gene



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.
genes like me logo Genes that share expression patterns with ISCA1: view

Protein tissue co-expression partners for ISCA1 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ISCA1 35
  • 95.61 (n)
  • 100 (a)
-- 36
  • 63 (a)
OneToMany
ISCA1 36
  • 100 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ISCA1 35
  • 95.61 (n)
  • 98.45 (a)
ISCA1 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Isca1 35
  • 87.08 (n)
  • 96.9 (a)
Isca1 16
AK157302 36
  • 96 (a)
OneToMany
Isca1 36
  • 97 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ISCA1 35
  • 100 (n)
  • 100 (a)
ISCA1 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isca1 35
  • 85.27 (n)
  • 96.9 (a)
oppossum
(Monodelphis domestica)
Mammalia ISCA1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISCA1 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISCA1 35
  • 83.46 (n)
  • 93.02 (a)
ISCA1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISCA1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia isca1 35
  • 76.74 (n)
  • 87.6 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9646 35
zebrafish
(Danio rerio)
Actinopterygii isca1 35
  • 70.28 (n)
  • 84.5 (a)
isca1 36
  • 84 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002730 35
  • 67.49 (n)
  • 76.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0136 35
  • 64.48 (n)
  • 77.87 (a)
l(1)G0136 36
  • 73 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y39B6A.3 35
  • 59.88 (n)
  • 67.26 (a)
Y39B6A.3 36
  • 57 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18150g 35
  • 54.78 (n)
  • 55.65 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISA1 36
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G16710 35
  • 50.81 (n)
  • 50.81 (a)
rice
(Oryza sativa)
Liliopsida Os01g0105800 35
  • 55.56 (n)
  • 54.47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5203 36
  • 64 (a)
OneToOne
Species with no ortholog for ISCA1:
  • 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)

Paralogs for ISCA1 Gene

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

genes like me logo Genes that share paralogs with ISCA1: view

No data available for Paralogs for ISCA1 Gene

Variants for ISCA1 Gene

Sequence variations from dbSNP and Humsavar for ISCA1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs9907 -- 86,265,042(-) CAATG(A/G/T)TTTGT utr-variant-3-prime
rs768111 -- 86,281,412(-) ACTGG(A/G)AAAAA intron-variant
rs1059144 -- 86,264,610(-) TGCAA(C/T)ACTGT utr-variant-3-prime
rs1535757 -- 86,275,118(+) gataa(C/T)agttc intron-variant
rs1535758 -- 86,275,200(+) aAAAA(A/T)ACCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv893536 CNV Gain 21882294

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)

Relevant External Links for ISCA1 Gene

HapMap Linkage Disequilibrium report
ISCA1

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

Disorders for ISCA1 Gene

Relevant External Links for ISCA1

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

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ISCA1 Gene

Publications for ISCA1 Gene

  1. hIscA: a protein implicated in the biogenesis of iron-sulfur clusters. (PMID: 15262227) Cozar-Castellano I. … Avila J. (Biochim. Biophys. Acta 2004) 2 23 67
  2. The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. (PMID: 22323289) Sheftel A.D. … Lill R. (Mol. Biol. Cell 2012) 2 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. [2Fe-2S] cluster transfer in iron-sulfur protein biogenesis. (PMID: 24733926) Banci L. … Winkelmann J. (Proc. Natl. Acad. Sci. U.S.A. 2014) 67
  5. 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. (PMID: 24217246) Pandey A. … Pain D. (J. Biol. Chem. 2013) 67

Products for ISCA1 Gene

Sources for ISCA1 Gene

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