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Aliases for ISCA1 Gene

Aliases for ISCA1 Gene

  • Iron-Sulfur Cluster Assembly 1 2 3
  • HBLD2 3 4 6
  • HIscA 3 4 6
  • HESB-Like Domain-Containing Protein 2 3 4
  • Iron-Sulfur Assembly Protein IscA 3 4
  • HESB Like Domain Containing 2 2 3
  • Iron-Sulfur Cluster Assembly 1 Homolog (S. Cerevisiae) 2
  • Iron-Sulfur Cluster Assembly 1 Homolog, Mitochondrial 3
  • Iron Sulfur Assembly Protein IscA 3
  • ISA1 3

External Ids for ISCA1 Gene

Previous Symbols for ISCA1 Gene

  • HBLD2

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

Genomic Location for ISCA1 Gene

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

Regulatory Elements 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 for ISCA1 Gene

UniProtKB/Swiss-Prot:

ISCA1_HUMAN
Family:
  • Belongs to the HesB/IscA family.:
    • Q9BUE6
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:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
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

miRNA for ISCA1 Gene

miRTarBase miRNAs that target ISCA1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ISCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with ISCA1: view

Pathways for ISCA1 Gene

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 IEA --
genes like me logo Genes that share ontologies with ISCA1: view

No data available for Pathways by source for ISCA1 Gene

Compounds for ISCA1 Gene

(1) HMDB Compounds for ISCA1 Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6
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:

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

Integrated Proteomics: protein expression 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 expressions with ISCA1: view

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 36
  • 100 (n)
  • 100 (a)
ISCA1 37
  • 73 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 63 (a)
OneToMany
ISCA1 36
  • 95.61 (n)
  • 100 (a)
ISCA1 37
  • 100 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ISCA1 36
  • 95.61 (n)
  • 98.45 (a)
ISCA1 37
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AK157302 37
  • 96 (a)
OneToMany
Isca1 36
  • 87.08 (n)
  • 96.9 (a)
Isca1 16
Isca1 37
  • 97 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ISCA1 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISCA1 37
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isca1 36
  • 85.27 (n)
  • 96.9 (a)
chicken
(Gallus gallus)
Aves ISCA1 36
  • 83.46 (n)
  • 93.02 (a)
ISCA1 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISCA1 37
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9646 36
tropical clawed frog
(Silurana tropicalis)
Amphibia isca1 36
  • 76.74 (n)
  • 87.6 (a)
zebrafish
(Danio rerio)
Actinopterygii isca1 36
  • 70.28 (n)
  • 84.5 (a)
isca1 37
  • 84 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002730 36
  • 67.49 (n)
  • 76.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0136 36
  • 64.48 (n)
  • 77.87 (a)
l(1)G0136 37
  • 73 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y39B6A.3 36
  • 59.88 (n)
  • 67.26 (a)
Y39B6A.3 37
  • 57 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISA1 37
  • 24 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18150g 36
  • 54.78 (n)
  • 55.65 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G16710 36
  • 50.81 (n)
  • 50.81 (a)
rice
(Oryza sativa)
Liliopsida Os01g0105800 36
  • 55.56 (n)
  • 54.47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5203 37
  • 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

Selected 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)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

Relevant External Links for ISCA1 Gene

HapMap Linkage Disequilibrium report
ISCA1

Disorders for ISCA1 Gene

Relevant External Links for ISCA1

Genetic Association Database (GAD)
ISCA1
Human Genome Epidemiology (HuGE) Navigator
ISCA1
genes like me logo Genes that share disorders with ISCA1: view

No data available for UniProtKB/Swiss-Prot 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 3 4 23
  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 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for ISCA1 Gene

Sources for ISCA1 Gene

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