Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ISCU Gene

protein-coding   GIFtS: 65
GCID: GC12P108956

Iron-Sulfur Cluster Assembly Enzyme

(Previous names: NifU-like N-terminal domain containing, IscU iron-sulfur...)
(Previous symbol: NIFUN)
  See ISCU-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Iron-Sulfur Cluster Assembly Enzyme1 2     2310020H20Rik2
NIFUN1 2 3     ISU22
NifU-Like N-Terminal Domain Containing1 2     NIFU2
NifU-Like N-Terminal Domain-Containing Protein2 3     hnifU2
NifU-Like Protein2 3     Iron-Sulfur Cluster Assembly Enzyme ISCU, Mitochondrial2
HML2 5     Iron-Sulfur Cluster Scaffold Homolog2
Iron-Sulfur Cluster Scaffold Homolog (E. Coli)1     IscU Iron-Sulfur Cluster Scaffold Homolog2
IscU Iron-Sulfur Cluster Scaffold Homolog (E. Coli)1     

External Ids:    HGNC: 298821   Entrez Gene: 234792   Ensembl: ENSG000001360037   OMIM: 6119115   UniProtKB: Q9H1K13   

Export aliases for ISCU gene to outside databases

Previous GC identifers: GC12P107458 GC12P107459 GC12P106020


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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. (provided by RefSeq, Jul 2008)

GeneCards Summary for ISCU Gene:
ISCU (iron-sulfur cluster assembly enzyme) is a protein-coding gene. Diseases associated with ISCU include myopathy with deficiency of iron-sulfur cluster assembly enzyme, and myopathy with deficiency of iscu. GO annotations related to this gene include iron-sulfur cluster binding and iron ion binding.

UniProtKB/Swiss-Prot: ISCU_HUMAN, Q9H1K1
Function: Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron

Gene Wiki entry for ISCU Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ISCU gene promoter:
         Pax-5   AML1a   NCX/Ncx   XBP-1   CUTL1   E4BP4   Evi-1   C/EBPalpha   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidISCU promoter sequence
   Search Chromatin IP Primers for ISCU

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ISCU


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.1   Ensembl cytogenetic band:  12q23.3   HGNC cytogenetic band: 12q24.1

ISCU Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ISCU gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P108956:  view genomic region     (about GC identifiers)

Start:
108,956,294 bp from pter      End:
108,963,160 bp from pter
Size:
6,867 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ISCU_HUMAN, Q9H1K1 (See protein sequence)
Recommended Name: Iron-sulfur cluster assembly enzyme ISCU, mitochondrial precursor  
Size: 167 amino acids; 17999 Da
Subunit: Binds NFS1. Interacts with HSCB
Secondary accessions: Q6P713 Q99617 Q9H1K2
Alternative splicing: 2 isoforms:  Q9H1K1-1   Q9H1K1-2   

Explore the universe of human proteins at neXtProt for ISCU: NX_Q9H1K1

Explore proteomics data for ISCU at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys54, Lys57, Lys82, Lys91, Lys112, Lys121, Lys147
  • Modification sites at PhosphoSitePlus

  • See ISCU Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055116.1  NP_998760.1  

    ENSEMBL proteins: 
     ENSP00000445598   ENSP00000411108   ENSP00000446606   ENSP00000310623   ENSP00000437854  
     ENSP00000376554   ENSP00000443272   ENSP00000344584  

    ISCU Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ISCU
    OriGene Protein Over-expression Lysate for ISCU
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ISCU
    GenScript Custom Purified and Recombinant Proteins Services for ISCU
    Novus Biologicals ISCU Proteins
    Novus Biologicals ISCU Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ISCU
    Cloud-Clone Corp. Proteins for ISCU

     
    Search eBioscience for Proteins for ISCU 

    ISCU Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ISCU
    OriGene Custom Antibody Services for ISCU
    Novus Biologicals ISCU Antibodies
    Abcam antibodies for ISCU
    Cloud-Clone Corp. Antibodies for ISCU
    ThermoFisher Antibody for ISCU
    LSBio Antibodies in human, mouse, rat for ISCU

    ISCU Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ISCU
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ISCU
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ISCU
    Cloud-Clone Corp. CLIAs for ISCU
    Search eBioscience for ELISAs for ISCU 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR002871 NIF_FeS_clus_asmbl_NifU_N
     IPR011339 ISC_FeS_clus_asmbl_IscU

    Graphical View of Domain Structure for InterPro Entry Q9H1K1

    ProtoNet protein and cluster: Q9H1K1

    2 Blocks protein domains:
    IPB002871 Nitrogen-fixing NifU-like
    IPB011339 FeS cluster assembly scaffold IscU


    UniProtKB/Swiss-Prot: ISCU_HUMAN, Q9H1K1
    Similarity: Belongs to the NifU family


    Find genes that share domains with ISCU           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ISCU_HUMAN, Q9H1K1
    Function: Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding TAS11060020
    GO:0005515protein binding IPI16527810
    GO:0032947protein complex scaffold IDA16527810
    GO:0051536iron-sulfur cluster binding IEA--
         
    Find genes that share ontologies with ISCU           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ISCU:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ISCU
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ISCU

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ISCU
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ISCU

    miRNA
    Products:
        
    miRTarBase miRNAs that target ISCU:
    hsa-mir-210-3p (MIRT003163), hsa-mir-21-5p (MIRT005717)

    Block miRNA regulation of human, mouse, rat ISCU using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ISCU:
    hsa-miR-589* hsa-miR-3924 hsa-miR-223* hsa-miR-210
    SwitchGear 3'UTR luciferase reporter plasmidISCU 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ISCU
    Predesigned siRNA for gene silencing in human, mouse, rat ISCU

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ISCU

    Clone
    Products:
         
    OriGene clones in human, mouse for ISCU (see all 12)
    OriGene ORF clones in mouse, rat for ISCU
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ISCU (NM_213595)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ISCU
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ISCU

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ISCU
    Browse ESI BIO Cell Lines and PureStem Progenitors for ISCU 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISCU

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-13176) for ISCU 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ISCU_HUMAN, Q9H1K1: Isoform 1: Mitochondrion
    ISCU_HUMAN, Q9H1K1: Isoform 2: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS16527810
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA11060020
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol IDA16527810

    Find genes that share ontologies with ISCU           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for ISCU About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    2Mitochondrial Iron-Sulfur Cluster Biogenesis
    Mitochondrial Iron-Sulfur Cluster Biogenesis



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ISCU
    Interactions:

        GeneGlobe Interaction Network for ISCU

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ISCU (Q9H1K12, 3 ENSP000003106234) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319472, 3MINT-3976149 I2D: score=2 
    NFS1Q9Y6973, ENSP000003632054I2D: score=2 STRING: ENSP00000363205
    RBL2Q089993, ENSP000002621334I2D: score=1 STRING: ENSP00000262133
    NFU1Q9UMS03, ENSP000003872194I2D: score=1 STRING: ENSP00000387219
    ABATP804043, ENSP000002682514I2D: score=1 STRING: ENSP00000268251
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009399nitrogen fixation TAS8875867
    GO:0016226iron-sulfur cluster assembly TAS11060020
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with ISCU           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ISCU

    1 HMDB Compound for ISCU    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    4 Novoseek inferred chemical compound relationships for ISCU gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron-sulfur 88.2 17 18304497 (3), 16527810 (2), 16517407 (1), 12137512 (1) (see all 13)
    sulfur 52.5 1 11060020 (1)
    iron 49.1 25 12137512 (4), 16517407 (3), 18558000 (1), 16527810 (1) (see all 9)
    cysteine 43.1 9 16527810 (3), 14720122 (2), 12196163 (1), 11060020 (1) (see all 6)



    Find genes that share compounds with ISCU           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ISCU gene (2 alternative transcripts): 
    NM_014301.3  NM_213595.2  

    Unigene Cluster for ISCU:

    Iron-sulfur cluster scaffold homolog (E. coli)
    Hs.615131  [show with all ESTs]
    Unigene Representative Sequence: AK057251
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000545932(uc010sxb.1 uc010sxd.2) ENST00000552072 ENST00000535729
    ENST00000431221 ENST00000547005 ENST00000311893(uc010sxc.2) ENST00000539580(uc009zuy.3)
    ENST00000392807(uc001tnc.4) ENST00000539593(uc010sxa.1) ENST00000535405
    ENST00000544493 ENST00000540154 ENST00000538193 ENST00000338291
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ISCU using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ISCU:
    hsa-miR-589* hsa-miR-3924 hsa-miR-223* hsa-miR-210
    SwitchGear 3'UTR luciferase reporter plasmidISCU 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ISCU
    Predesigned siRNA for gene silencing in human, mouse, rat ISCU
    Clone
    Products:
         
    OriGene clones in human, mouse for ISCU (see all 12)
    OriGene ORF clones in mouse, rat for ISCU
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ISCU (NM_213595)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ISCU
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ISCU
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ISCU
    OriGene qSTAR qPCR primer pairs in human, mouse for ISCU
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ISCU
      QuantiTect SYBR Green Assays in human, mouse, rat ISCU
      QuantiFast Probe-based Assays in human, mouse, rat ISCU
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-13176) for ISCU 

    Additional mRNA sequence: 

    AK000574.1 AK057251.1 AK293202.1 AK297862.1 AY009127.1 AY009128.1 BC003522.1 BC011906.2 
    BC061903.1 EU329002.1 U47101.1 

    13 DOTS entries:

    DT.101984346  DT.100822291  DT.417830  DT.100822286  DT.100822288  DT.95160742  DT.75143425  DT.91756816 
    DT.100822293  DT.95160763  DT.97847991  DT.100822285  DT.408935 

    Selected AceView cDNA sequences (see all 368):

    AI866825 BQ772078 AI287714 AW021398 CA432796 BI491043 AL702164 CR622204 
    BU730938 BU732035 AL702163 CR612054 AW021471 BM691103 BM666465 CR621989 
    CR604295 BM695297 AK022758 CB160615 CB161236 AA453054 BQ002528 BM714956 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ISCU (see all 8)    About this scheme

    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:                                -     -           -                                                               


    ECgene alternative splicing isoforms for ISCU

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ISCU expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGCAAAAT
    ISCU Expression
    About this image


    ISCU expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    ISCU Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ISCU Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.615131

    UniProtKB/Swiss-Prot: ISCU_HUMAN, Q9H1K1
    Tissue specificity: Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta

        Custom PCR Arrays for ISCU
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ISCU
    OriGene qSTAR qPCR primer pairs in human, mouse for ISCU
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ISCU
    QuantiTect SYBR Green Assays in human, mouse, rat ISCU
    QuantiFast Probe-based Assays in human, mouse, rat ISCU
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISCU

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ISCU gene from Selected species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Iscu1 , 5 IscU iron-sulfur cluster scaffold homolog (E. coli)1, 5 87.55(n)1
    96.39(a)1
      5 (55.55 cM)5
    663831  NM_025526.41  NP_079802.11 
     1137727485 
    chicken
    (Gallus gallus)
    Aves ISCU1 iron-sulfur cluster scaffold homolog (E. coli) 75(n)
    85.53(a)
      416891  XM_003642182.2  XP_003642230.2 
    lizard
    (Anolis carolinensis)
    Reptilia ISCU6
    iron-sulfur cluster assembly enzyme
    81(a)
    1 ↔ 1
    GL343913.1(79476-83133)
    African clawed frog
    (Xenopus laevis)
    Amphibia nifu-pending-prov2 nitrogen fixation cluster-like 81.15(n)    BC053823.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj08f022 wufj08f02 76.63(n)   335391  BI897987.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG98361 CG9836 68.28(n)
    79.31(a)
      41059  NM_141583.4  NP_649840.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y45F10D.41 Y45F10D.4 63.7(n)
    71.23(a)
      178344  NM_070257.3  NP_502658.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ISU2(YOR226C)4
    ISU21
    Conserved protein of the mitochondrial matrix, required more4
    ISU21
    65.9(n)1
    72.31(a)1
      15(762084-761614)4
    8544011, 4  NP_014869.31  NP_014869.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ISU31 ISU3 65.15(n)
    74.24(a)
      825719  NM_116646.2  NP_192317.1 
    rice
    (Oryza sativa)
    Liliopsida AK119723.12   -- 73.05(n)    AK119723.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ISCU gene

    Find genes that share paralogs with ISCU           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ISCU
    PGOHUM00000244328 PGOHUM00000260128


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ISCU (see all 151)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1385445591,2
    C--106027652(+) CAGATC/-TGCGC 2 -- ut311Minor allele frequency- -:0.50NA 2
    rs113822111,2
    C,F--106027653(+) CAGATC/TGCGCA 2 -- ut313Minor allele frequency- T:0.09NA 140
    rs744740251,2
    C,F--108801694(+) GAGAGG/AACATT 2 -- int11Minor allele frequency- A:0.07NA 120
    rs1498778531,2
    --108801761(+) GAAGGG/TTTAGC 2 -- int10--------
    rs786294371,2
    C--108801776(+) TTGGGA/GAACTG 2 -- int10--------
    rs1486867531,2
    --108801836(+) GTAAGA/GCAGTG 2 -- int10--------
    rs1902507871,2
    --108801931(+) TTGATC/TTGGAG 2 -- int10--------
    rs1422351921,2
    --108801988(+) TGACTC/TGGCTG 2 -- int10--------
    rs1823235251,2
    --108802053(+) TCGGCA/CCTTCT 2 -- int10--------
    rs619340811,2
    F--108802064(+) AGTCAG/AAAGGA 2 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for ISCU (108956294 - 108963160 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ISCU: --
    Human Gene Mutation Database (HGMD): ISCU
    Locus Specific Mutation Databases (LSDB): ISCU

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ISCU
    DNA2.0 Custom Variant and Variant Library Synthesis for ISCU

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 611911   
    OMIM disorders: 255125  
    UniProtKB/Swiss-Prot: ISCU_HUMAN, Q9H1K1
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for ISCU:    
    About MalaCards
    myopathy with deficiency of iron-sulfur cluster assembly enzyme    myopathy with deficiency of iscu    siderosis

    3 diseases from the University of Copenhagen DISEASES database for ISCU:
    Friedreich ataxia     Sideroblastic anemia     Lactic acidosis

    Find genes that share disorders with ISCU           About GenesLikeMe

    GeneTests: ISCU
    GeneReviews: ISCU
    Genetic Association Database (GAD): ISCU
    Human Genome Epidemiology (HuGE) Navigator: ISCU (1 document)

    Export disorders for ISCU gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for ISCU gene, integrated from 10 sources (see all 65):
    (articles sorted by number of sources associating them with ISCU)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution. (PubMed id 8875867)1, 2, 3, 9 Hwang D.M.... Liew C.-C. (J. Mol. Evol. 1996)
    2. Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells. (PubMed id 11060020)1, 2, 3, 9 Tong W.-H. and Rouault T. (EMBO J. 2000)
    3. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. (PubMed id 18304497)1, 2, 9 Mochel F.... Haller R.G. (Am. J. Hum. Genet. 2008)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy. (PubMed id 19567699)1, 9 Kollberg G....Holme E. (Brain 2009)
    7. Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis. (PubMed id 16517407)1, 9 Tong W.H. and Rouault T.A. (Cell Metab. 2006)
    8. Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect. (PubMed id 18296749)1, 9 Olsson A....Holmberg M. (Hum. Mol. Genet. 2008)
    9. Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly. (PubMed id 16527810)1, 9 Li K....Rouault T.A. (J. Biol. Chem. 2006)
    10. miR-210 is a target of hypoxia-inducible factors 1 and 2 in renal cancer, regulates ISCU and correlates with good prognosis. (PubMed id 23449350)1 McCormick R.I....Harris A.L. (Br. J. Cancer 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 23479 HGNC: 29882 AceView: ISCU Ensembl:ENSG00000136003 euGenes: HUgn23479
    ECgene: ISCU H-InvDB: ISCU

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ISCU Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ISCU[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ISCU gene:
    Search GeneIP for patents involving ISCU

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ISCU   OriGene RNAi products in human, mouse, rat for ISCU  
     OriGene qPCR primer pairs and template standards for ISCU   OriGene Protein Over-expression Lysate for ISCU  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ISCU  
     OriGene qSTAR qPCR primer pairs in human, mouse for ISCU   OriGene Purified Protein for ISCU  
     OriGene ORF clones in mouse, rat for ISCU   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ISCU   OriGene Custom Protein Services for ISCU  

     
     
     Block miRNA regulation of human, mouse, rat ISCU using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ISCU
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ISCU Predesigned siRNA for gene silencing in human, mouse, rat ISCU
     QuantiFast Probe-based Assays in human, mouse, rat ISCU QuantiTect SYBR Green Assays in human, mouse, rat ISCU
     Custom PCR Arrays for ISCU Search Chromatin IP Primers for ISCU
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ISCU  GeneGlobe Interaction Network for ISCU
     Regulatory tfbs in ISCU promoter
     GenScript Custom Purified and Recombinant Proteins Services for ISCU GenScript cDNA clones with any tag delivered in your preferred vector for ISCU
     GenScript Custom Assay Services for ISCU GenScript Custom overexpressing Cell Line Services for ISCU
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ISCU
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ISCU antibodies
     ISCU proteins
     ISCU lysates
     Antibodies for ISCU
     See all of Abcam's Antibodies, Kits and Proteins for ISCU
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ISCU
     Proteins for ISCU
     Antibodies for ISCU
     ELISAs for ISCU
     CLIAs for ISCU



     Browse ESI BIO Cell Lines and PureStem Progenitors for ISCU
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISCU
     SwitchGear 3'UTR luciferase reporter plasmids for ISCU
     SwitchGear Promoter luciferase reporter plasmids for ISCU
     ThermoFisher Antibody for ISCU
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ISCU
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ISCU
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ISCU
     LSBio Antibodies in human, mouse, rat for ISCU
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for ISCU
      Search eBioscience for proteins for ISCU
      Search eBioscience for elisas for ISCU
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ISCU gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4