Homo sapiens Gene: ISCU
Summary
InnateDB Gene IDBG-55391.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ISCU
Gene Name iron-sulfur cluster scaffold homolog (E. coli)
Synonyms 2310020H20Rik; HML; hnifU; ISU2; NIFU; NIFUN;
Species Homo sapiens
Ensembl Gene ENSG00000136003
Encoded Proteins
iron-sulfur cluster scaffold homolog (E. coli)
iron-sulfur cluster scaffold homolog (E. coli)
iron-sulfur cluster scaffold homolog (E. coli)
iron-sulfur cluster scaffold homolog (E. coli)
iron-sulfur cluster scaffold homolog (E. coli)
iron-sulfur cluster scaffold homolog (E. coli)
iron-sulfur cluster scaffold homolog (E. coli)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:108562582-108569384
Strand Forward strand
Band q23.3
Transcripts
ENST00000311893 ENSP00000310623
ENST00000392807 ENSP00000376554
ENST00000431221 ENSP00000411108
ENST00000545932
ENST00000552072
ENST00000535729 ENSP00000445598
ENST00000547005 ENSP00000446606
ENST00000539580 ENSP00000437854
ENST00000539593 ENSP00000443272
ENST00000535405
ENST00000544493
ENST00000540154
ENST00000538193
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0032947 protein complex scaffold
GO:0051536 iron-sulfur cluster binding
Biological Process
GO:0009399 nitrogen fixation
GO:0016226 iron-sulfur cluster assembly
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.615131
RefSeq NM_001301141 NM_014301 NM_213595 XM_005268760 XM_005268761 XM_006719315
HUGO
OMIM
CCDS CCDS44966 CCDS73518 CCDS9118
HPRD 14828
IMGT
EMBL
GenPept
RNA Seq Atlas