Recombinant Human NFU1 iron-sulfur cluster scaffold homolog, mitochondrial (NFU1)

Uniprot Id

Q9UMS0

Target Species

Human

Target Name

NFU1

Target Full Name

NFU1 iron-sulfur cluster scaffold homolog, mitochondrial

Target Function

Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins.

Target Involvement

Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)

Target Subcellular Location

Mitochondrion. Cytoplasm, cytosol.

Target Protein Families

NifU family

Target Tissue Specificity

Ubiquitous. Expression in adult lung is weak compared to fetal lung.

Target Synonyms

0610006G17Rik; CGI 33; HIRA interacting protein 5; HIRA-interacting protein 5; Hirip5; Histone cell cycle regulation defective interacting protein 5; Iron sulfur cluster scaffold protein; MGC142252; MGC142254; mHIRIP5; mitochondrial; Nfu; NFU1; NFU1 iron sulfur cluster scaffold homolog (S. cerevisiae); NFU1 iron sulfur cluster scaffold homolog; NFU1 iron sulfur cluster scaffold homolog, mitochondrial; NFU1 iron-sulfur cluster scaffold homolog; NFU1_HUMAN; NifU; NIFUC; OTTHUMP00000214438; OTTHUMP00000214439; OTTHUMP00000214465; OTTHUMP00000214466; OTTMUSP00000038171; OTTMUSP00000038172

Target Background

This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.