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Iscu Gene Detail
Summary
  • Symbol
    Iscu
  • Name
    iron-sulfur cluster assembly enzyme
  • Synonyms
    2310020H20Rik, Nifun
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913633
    NCBI Gene: 66383
  • Gene Overview
    MyGene.info: ISCU
Location & Maps
more
  • Sequence Map
    Chr5:113772748-113778288 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5541 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 55.55 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ISCU, iron-sulfur cluster assembly enzyme
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ISCU, iron-sulfur cluster assembly enzyme
    Orthology source: HGNC, HomoloGene
  • Synonyms
    2310020H20Rik, HML, hnifU, ISU2, NIFU, NIFUN
  • Links
    NCBI Gene ID: 23479
    neXtProt AC: NX_Q9H1K1

  • Chr Location
    12q24.1; chr12:108561463-108569384 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 6991
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: ISCU
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human ISCU associations

Human Disease Mouse Models
       Myopathy with Lactic Acidosis, Hereditary; HML   OMIM: 255125
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotype references
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    1
  • Genomic Mutations
    2 involving Iscu
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025818 VEGA Gene Model | MGI Sequence Detail 5541 C57BL/6J ±  kb
transcript OTTMUST00000063603 VEGA | MGI Sequence Detail 1395 Not Applicable  
polypeptide OTTMUSP00000031462 VEGA | MGI Sequence Detail 209 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    10 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000009113 iron-sulfur cluster assembly enzyme ISCU, mitochondrial
  • PDB
  • InterPro Domains
    IPR011339 ISC system FeS cluster assembly, IscU scaffold
    IPR002871 NIF system FeS cluster assembly, NifU, N-terminal
Molecular
Reagents
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  • All nucleic 10
    cDNA 10

    Microarray probesets 5
Other
Accession IDs
less
MGI:2147429
References
more
  • Summaries
    All 32
    Gene Ontology 7
    Phenotypes 8
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:198599 La P, et al., Mammalian target of rapamycin complex 1 (mTORC1)-mediated phosphorylation stabilizes ISCU protein: implications for iron metabolism. J Biol Chem. 2013 May 3;288(18):12901-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory