NFU1 (NFU1 iron-sulfur cluster scaffold)

2014-11-01  

Identity

HGNC
NFU1
LOCATION
2p13.3
LOCUSID
27247
ALIAS
CGI-33,HIRIP,HIRIP5,MMDS1,NIFUC,Nfu,NifU
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27247
MIM: 608100
HGNC: 16287
Ensembl: ENSG00000169599

Variants:

dbSNP: 27247
ClinVar: 27247
TCGA: ENSG00000169599
COSMIC: NFU1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169599ENST00000303698Q9UMS0
ENSG00000169599ENST00000394305Q9UMS0
ENSG00000169599ENST00000410022Q9UMS0
ENSG00000169599ENST00000419370F8WAV1
ENSG00000169599ENST00000438184F8WET4
ENSG00000169599ENST00000450796F8W9P7
ENSG00000169599ENST00000462320Q9UMS0
ENSG00000169599ENST00000474230H7C537
ENSG00000169599ENST00000484177C9J8Q1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
219440462011Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.84
220779712011A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.82
128860082003Subcellular compartmentalization of human Nfu, an iron-sulfur cluster scaffold protein, and its ability to assemble a [4Fe-4S] cluster.79
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
231795542013Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.17
278181042016Structural/Functional Properties of Human NFU1, an Intermediate [4Fe-4S] Carrier in Human Mitochondrial Iron-Sulfur Cluster Biogenesis.15
129154482003The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.13
275385732016Iron-sulfur cluster exchange reactions mediated by the human Nfu protein.11
191463902009Iron-sulfur cluster biosynthesis: functional characterization of the N- and C-terminal domains of human NFU.9
197226972009Iron-sulfur cluster biosynthesis: characterization of a molten globule domain in human NFU.8

Citation

Dessen P

NFU1 (NFU1 iron-sulfur cluster scaffold)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70818/nfu1