Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ISCU Gene

Aliases for ISCU Gene

  • Iron-Sulfur Cluster Assembly Enzyme 2 3
  • NifU-Like N-Terminal Domain-Containing Protein 3 4
  • NIFUN 3 4
  • HML 3 6
  • Iron-Sulfur Cluster Assembly Enzyme ISCU, Mitochondrial 3
  • IscU Iron-Sulfur Cluster Scaffold Homolog (E. Coli) 2
  • Iron-Sulfur Cluster Scaffold Homolog (E. Coli) 2
  • IscU Iron-Sulfur Cluster Scaffold Homolog 3
  • NifU-Like N-Terminal Domain Containing 2
  • NifU-Like Protein 4
  • 2310020H20Rik 3
  • HnifU 3
  • NifU 3
  • ISU2 3

External Ids for ISCU Gene

Previous Symbols for ISCU Gene

  • NIFUN

Summaries for ISCU Gene

Entrez Gene Summary for ISCU Gene

  • Iron-sulfur (Fe-S) clusters are necessary for several mitochondrial enzymes and other subcellular compartment proteins. They contain sulfur and iron, and are created via several steps that include cysteine desulfurases, iron donors, chaperones, and scaffold proteins. This gene encodes the two isomeric forms, ISCU1 and ISCU2, of the Fe-S cluster scaffold protein. Mutations in this gene have been found in patients with myopathy with severe exercise intolerance and myoglobinuria. A pseudogene of this gene is present on chromosome 1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

GeneCards Summary for ISCU Gene

ISCU (Iron-Sulfur Cluster Assembly Enzyme) is a Protein Coding gene. Diseases associated with ISCU include myopathy with lactic acidosis, hereditary and myopathy with deficiency of iscu. Among its related pathways are Metabolism and Mitochondrial Iron-Sulfur Cluster Biogenesis. GO annotations related to this gene include iron ion binding and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot for ISCU Gene

  • Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron.

Gene Wiki entry for ISCU Gene

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

Genomics for ISCU Gene

Genomic Location for ISCU Gene

Start:
108,561,463 bp from pter
End:
108,569,384 bp from pter
Size:
7,922 bases
Orientation:
Plus strand

Genomic View for ISCU Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ISCU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISCU Gene

Regulatory Elements for ISCU Gene

Proteins for ISCU Gene

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

    Protein Symbol:
    Q9H1K1-ISCU_HUMAN
    Recommended name:
    Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
    Protein Accession:
    Q9H1K1
    Secondary Accessions:
    • Q6P713
    • Q99617
    • Q9H1K2

    Protein attributes for ISCU Gene

    Size:
    167 amino acids
    Molecular mass:
    17999 Da
    Quaternary structure:
    • Binds NFS1. Interacts with HSCB.

    Alternative splice isoforms for ISCU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISCU Gene

Proteomics data for ISCU Gene at MOPED

Post-translational modifications for ISCU Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys54, Lys57, Lys82, Lys91, Lys112, Lys121, and Lys147

No data available for DME Specific Peptides for ISCU Gene

Domains for ISCU Gene

Graphical View of Domain Structure for InterPro Entry

Q9H1K1

UniProtKB/Swiss-Prot:

ISCU_HUMAN
Family:
  • Belongs to the NifU family.:
    • Q9H1K1
genes like me logo Genes that share domains with ISCU: view

No data available for Gene Families for ISCU Gene

Function for ISCU Gene

Molecular function for ISCU Gene

UniProtKB/Swiss-Prot Function: Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron.

Gene Ontology (GO) - Molecular Function for ISCU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding TAS 11060020
GO:0005515 protein binding IPI 16527810
GO:0032947 protein complex scaffold IDA 16527810
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with ISCU: view

Phenotypes for ISCU Gene

GenomeRNAi human phenotypes for ISCU:
genes like me logo Genes that share phenotypes with ISCU: view

miRNA for ISCU Gene

miRTarBase miRNAs that target ISCU

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ISCU Gene

Localization for ISCU Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISCU Gene

Isoform 1: Mitochondrion.
Isoform 2: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ISCU Gene COMPARTMENTS Subcellular localization image for ISCU gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for ISCU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 16527810
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA 11060020
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA 16527810
genes like me logo Genes that share ontologies with ISCU: view

Pathways for ISCU Gene

genes like me logo Genes that share pathways with ISCU: view

Pathways by source for ISCU Gene

2 Reactome pathways for ISCU Gene

Gene Ontology (GO) - Biological Process for ISCU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009399 nitrogen fixation TAS 8875867
GO:0016226 iron-sulfur cluster assembly TAS 11060020
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ISCU: view

Compounds for ISCU Gene

(1) HMDB Compounds for ISCU Gene

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

(4) Novoseek inferred chemical compound relationships for ISCU Gene

Compound -log(P) Hits PubMed IDs
iron-sulfur 88.2 16
sulfur 52.5 1
iron 49.1 14
cysteine 43.1 9
genes like me logo Genes that share compounds with ISCU: view

Transcripts for ISCU Gene

Unigene Clusters for ISCU Gene

Iron-sulfur cluster scaffold homolog (E. coli):
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - -
SP6: - -
SP7: - - -
SP8:

Relevant External Links for ISCU Gene

GeneLoc Exon Structure for
ISCU
ECgene alternative splicing isoforms for
ISCU

Expression for ISCU Gene

mRNA expression in normal human tissues for ISCU Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ISCU Gene

SOURCE GeneReport for Unigene cluster for ISCU Gene Hs.615131

mRNA Expression by UniProt/SwissProt for ISCU Gene

Q9H1K1-ISCU_HUMAN
Tissue specificity: Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta.
genes like me logo Genes that share expressions with ISCU: view

No data available for mRNA differential expression in normal tissues for ISCU Gene

Orthologs for ISCU Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ISCU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 99 (a)
OneToMany
ISCU 35
  • 99.6 (n)
  • 99.4 (a)
NIFUN 36
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ISCU 35
  • 90.02 (n)
  • 97.6 (a)
ISCU 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ISCU 36
  • 99 (a)
OneToOne
LOC477527 35
  • 93.41 (n)
  • 98.8 (a)
mouse
(Mus musculus)
Mammalia Iscu 35
  • 87.55 (n)
  • 96.39 (a)
Iscu 16
Iscu 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISCU 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISCU 36
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iscu 35
  • 88.22 (n)
  • 97.01 (a)
chicken
(Gallus gallus)
Aves ISCU 35
  • 75 (n)
  • 85.53 (a)
ISCU 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISCU 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia nifu-pending-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia iscu 35
  • 78.45 (n)
  • 84.96 (a)
zebrafish
(Danio rerio)
Actinopterygii ISCU (2 of 2) 36
  • 77 (a)
OneToMany
iscub 35
  • 73.43 (n)
  • 86.47 (a)
iscub 36
  • 71 (a)
OneToMany
wufj08f02 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005813 35
  • 69.08 (n)
  • 80.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9836 35
  • 68.28 (n)
  • 79.31 (a)
CG9836 36
  • 75 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y45F10D.4 35
  • 63.7 (n)
  • 71.23 (a)
Y45F10D.4 36
  • 68 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR112C 35
  • 60.69 (n)
  • 66.21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISU1 36
  • 60 (a)
OneToMany
ISU2 35
  • 65.9 (n)
  • 72.31 (a)
ISU2 36
  • 62 (a)
OneToMany
ISU2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07161g 35
  • 64.49 (n)
  • 71.74 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6801 35
thale cress
(Arabidopsis thaliana)
eudicotyledons ISU3 35
  • 65.15 (n)
  • 74.24 (a)
rice
(Oryza sativa)
Liliopsida Os01g0662600 35
  • 65.91 (n)
  • 77.27 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05778 35
  • 59.33 (n)
  • 68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes isu1 35
  • 62.93 (n)
  • 71.2 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4350 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 70 (a)
OneToOne
Species with no ortholog for ISCU:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 ISCU Gene

ENSEMBL:
Gene Tree for ISCU (if available)
TreeFam:
Gene Tree for ISCU (if available)

Paralogs for ISCU Gene

Pseudogenes.org Pseudogenes for ISCU Gene

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

No data available for Paralogs for ISCU Gene

Variants for ISCU Gene

Sequence variations from dbSNP and Humsavar for ISCU Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs10187 -- 108,569,028(+) AGATA(C/T)GCACA utr-variant-3-prime, downstream-variant-500B
rs876161 -- 108,567,452(+) AGAGA(A/G)TCATG intron-variant
rs880844 -- 108,568,592(-) TAGTT(C/T)CTTAG intron-variant, utr-variant-3-prime, nc-transcript-variant
rs888546 -- 108,567,517(+) TAAAC(C/T)TCACA intron-variant
rs888547 -- 108,567,578(+) GAAGC(C/T)AAGGC intron-variant

Relevant External Links for ISCU Gene

HapMap Linkage Disequilibrium report
ISCU
Human Gene Mutation Database (HGMD)
ISCU
Locus Specific Mutation Databases (LSDB)
ISCU

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ISCU Gene

Disorders for ISCU Gene

(1) OMIM Diseases for ISCU Gene (611911)

UniProtKB/Swiss-Prot

ISCU_HUMAN
  • Myopathy with exercise intolerance Swedish type (MEIS) [MIM:255125]: Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. {ECO:0000269 PubMed:18304497}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ISCU Gene

Relevant External Links for ISCU

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

Publications for ISCU Gene

  1. A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution. (PMID: 8875867) Hwang D.M. … Liew C.-C. (J. Mol. Evol. 1996) 2 3 4 23
  2. Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells. (PMID: 11060020) Tong W.-H. … Rouault T. (EMBO J. 2000) 2 3 4 23
  3. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. (PMID: 18304497) Mochel F. … Haller R.G. (Am. J. Hum. Genet. 2008) 3 4 23
  4. Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis. (PMID: 16517407) Tong W.H. … Rouault T.A. (Cell Metab. 2006) 3 23
  5. Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly. (PMID: 16527810) Li K. … Rouault T.A. (J. Biol. Chem. 2006) 3 23

Products for ISCU Gene

Sources for ISCU Gene

Back to Top

Content