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Aliases for ISCA1 Gene

Aliases for ISCA1 Gene

  • Iron-Sulfur Cluster Assembly 1 2 3 5
  • 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 Cluster Assembly 1 Homolog, Mitochondrial 3
  • 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.

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

Additional gene information for ISCA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH09I086280 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.7 743 2.8 HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ISCA1 C9orf153 GAS1RR RN7SKP264 LOC389765 LOC100130049 GAS1 ZCCHC6
GH09I086287 Enhancer 1 Ensembl ENCODE 0.8 -4.1 -4119 0.4 ATF1 ARID4B MZF1 ZNF2 THRB RAD21 ATF7 CREM THAP11 ZNF654 C9orf153 ISCA1 GC09M086340
GH09I086284 Enhancer 0.7 ENCODE 0.8 -2.1 -2102 1.3 SMARCE1 MEIS2 LEF1 PKNOX1 MTA2 TEAD4 TAL1 CBFA2T3 REST DPF2 ZCCHC6 C9orf153 ISCA1 GC09M086340
GH09I086286 Enhancer 0.6 ENCODE 0.8 -3.6 -3562 0.1 SOX6 TEAD4 TAL1 CBFA2T3 DPF2 EP300 ZNF592 CC2D1A TCF12 GATA2 ISCA1 GC09M086340
GH09I086337 Enhancer 1 Ensembl ENCODE 0.2 -56.0 -55970 4 PKNOX1 INSM2 BACH1 BMI1 CHD7 BATF POLR2A ZNF143 ATF7 FOSL2 ZCCHC6 C9orf153 GC09M086340 ISCA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISCA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ISCA1 gene promoter:

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)

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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
GO:0051537 2 iron, 2 sulfur cluster binding IBA --
genes like me logo Genes that share ontologies with ISCA1: view
genes like me logo Genes that share phenotypes with ISCA1: view

Animal Models for ISCA1 Gene

MGI Knock Outs for ISCA1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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

Gene Ontology (GO) - Cellular Components for ISCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IBA,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

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 --
GO:0044281 small molecule metabolic process TAS --
GO:0097428 protein maturation by iron-sulfur cluster transfer IEA,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

Unigene Clusters for ISCA1 Gene

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

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
ECgene alternative splicing isoforms for
ISCA1

Expression for ISCA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ISCA1 Gene



Protein tissue co-expression partners for ISCA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ISCA1 Gene:

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 33 34
  • 100 (n)
mouse
(Mus musculus)
Mammalia AK157302 34
  • 96 (a)
OneToMany
Isca1 33 16 34
  • 87.08 (n)
cow
(Bos Taurus)
Mammalia ISCA1 33 34
  • 95.61 (n)
-- 34
  • 63 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ISCA1 33 34
  • 95.61 (n)
oppossum
(Monodelphis domestica)
Mammalia ISCA1 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isca1 33
  • 85.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ISCA1 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISCA1 33 34
  • 83.46 (n)
lizard
(Anolis carolinensis)
Reptilia ISCA1 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia isca1 33
  • 76.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9646 33
zebrafish
(Danio rerio)
Actinopterygii isca1 33 34
  • 70.28 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002730 33
  • 67.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0136 33 34
  • 64.48 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y39B6A.3 33
  • 59.88 (n)
Y39B6A.3 34
  • 57 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18150g 33
  • 54.78 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISA1 34
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G16710 33
  • 50.81 (n)
rice
(Oryza sativa)
Liliopsida Os01g0105800 33
  • 55.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5203 34
  • 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)

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 Variation AA Info Type
rs776679653 pathogenic, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, Multiple mitochondrial dysfunctions syndrome, Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) [MIM:617613] 86,266,174(-) C/T coding_sequence_variant, missense_variant
rs1000029020 -- 86,278,649(-) G/C intron_variant
rs1000409192 -- 86,275,532(-) G/A intron_variant
rs1000504617 -- 86,270,174(-) A/C intron_variant
rs1000615380 -- 86,267,315(-) G/A intron_variant

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

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

Disorder Aliases PubMed IDs
multiple mitochondrial dysfunctions syndrome 5
  • mmds5
multiple mitochondrial dysfunctions syndrome
  • multiple mitochondrial dysfunctions syndrome 1
ampulla of vater neoplasm
  • tumor of the ampulla of vater
aspiration pneumonia
  • aspiration pneumonitis
- 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 22 58
  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 58
  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 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ISCA1 Gene

Sources for ISCA1 Gene

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