Version 5.4
Homo sapiens Protein: ISCU
Summary
InnateDB Protein IDBP-55393.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ISCU
Protein Name iron-sulfur cluster scaffold homolog (E. coli)
Synonyms 2310020H20Rik; HML; hnifU; ISU2; NIFU; NIFUN;
Species Homo sapiens
Ensembl Protein ENSP00000310623
InnateDB Gene IDBG-55391 (ISCU)
Protein Structure
UniProt Annotation
Function Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron. {ECO:0000269PubMed:11060020}.
Subcellular Localization Isoform 1: Mitochondrion.Isoform 2: Cytoplasm. Nucleus.
Disease Associations 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:0000269PubMed:18304497}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta. {ECO:0000269PubMed:11060020, ECO:0000269PubMed:8875867}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR002871 NIF system FeS cluster assembly, NifU, N-terminal
IPR011339 ISC system FeS cluster assembly, IscU scaffold
PFAM PF01592
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H1K1
PhosphoSite PhosphoSite-Q9H1K1
TrEMBL
UniProt Splice Variant
Entrez Gene 23479
UniGene Hs.615131
RefSeq NP_998760
HUGO HGNC:29882
OMIM 611911
CCDS CCDS44966
HPRD 14828
IMGT
EMBL AC008119 AY009127 AY009128 BC011906 BC061903 U47101
GenPept AAC50885 AAG37427 AAG37428 AAH11906 AAH61903

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca