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FLASH GENE

Symbol

NFU1

contributors: mct - updated : 27-06-2023

HGNC name	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)
HGNC id	16287

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MMDFS multiple mitochondrial dysfunctions syndrome 1
Location	2p13.3      Physical location : 69.623.254 - 69.664.753
Synonym name	iron-sulfur cluster scaffold protein
	HIRA interacting protein 5
	CGI33 protein
Synonym symbol(s)	CGI-33, HIRIP5, MGC142252,MGC142254, Nfu, NifU, NIFUC, MMDFS

DNA

TYPE	functioning gene
STRUCTURE	41.50 kb     7 Exon(s)

regulatory sequence

Promoter (TATA box)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001002755 8 - 1091 28.5 254 - 2011 21944046 exon 1B, which contains an in-frame stop codon, is spliced out, and the protein is predicted to be targeted to mitochondria by a leader sequence coded in exon 1A NM_001002756 7 - 1045 12.3 113 - 2011 21944046 NM_015700 8 - 1181 25.5 230 - 2011 21944046 contains exon 1B, and translation is predicted to start from a downstream AUG start codon in exon 2 and produce a protein that remains in the cytosol NM_001374284 9 - 1461 NP_001361213 - 230 - 2011 21944046

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Nervous nerve       highly Respiratory lung         Urinary kidney         Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal domain with a fully folded regular tertiary structure
	a NifU-like domain at the C-terminus, having a pair of redox active cysteines and thioredoxin-like activity by both binding to and mediating persulfide bond cleavage of sulfur-loaded IscS, the sulfide donor for [2Fe-2S] cluster assembly on ISU-type scaffold proteins

HOMOLOGY

Homologene

FAMILY

NIFU family

CATEGORY

storage

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	involved in respiratory chain biogenis
	may be functioning in nitrogen fixation
	implicated in cellular iron-sulfur cluster biosynthesis
	functionally competent reducing agent for cysteinyl persulfide bond cleavage, releasing inorganic sulfide for incorporation into the ISU-bound [2Fe-2S] cluster, a reactivity that might be facilitated by the flexibility of the C-terminal domain
	play essential roles in the production of [Fe-S] centers for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the respiratory chain complexes
	NFU1- (and BOLA3-) dependent assembled clusters are directed to complex I and lipoate synthesis
	could function as an alternate scaffold to ISCU for assembly of [Fe-S] proteins, thus providing parallel pathways
	functions as a late-acting maturation factor for a subset of mitochondrial Fe-S proteins
	role of mitochondrial NFU1 late in the Fe-S protein biogenesis pathway is similar to the assumed function of the mitochondrial P loop NTPase IND1, which also transiently binds an Fe-S cluster and is specifically required for assembly of respiratory complex I
	is a mitochondrial iron-sulfur scaffold protein, involved in iron-sulfur assembly and transfer to complex II and LAS (lipoic acid synthase)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	laforin (laforin-binding partner)
	NFU1, BOLA3, ISCA2 and IBA57 operate in the maturation of [4Fe-4S] clusters, and IBA57 seems to require BOLA3, NFU1 and ISCA2 for its stability

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MMDFS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS