InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NFU1

Summary

InnateDB Protein

IDBP-54876.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NFU1

Protein Name

NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000306965

InnateDB Gene

IDBG-54874 (NFU1)

Protein Structure

UniProt Annotation

Function

Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins. {ECO:0000269PubMed:12886008}.

Subcellular Localization

Mitochondrion. Cytoplasm, cytosol.

Disease Associations

Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711]: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. {ECO:0000269PubMed:21944046, ECO:0000269PubMed:22077971}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Expression in adult lung is weak compared to fetal lung. {ECO:0000269PubMed:12915448}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0005515	protein binding
GO:0051536	iron-sulfur cluster binding
GO:0051539	4 iron, 4 sulfur cluster binding