FOXRED1 (FAD dependent oxidoreductase domain containing 1)

2014-11-01  

Identity

HGNC
FOXRED1
LOCATION
11q24.2
LOCUSID
55572
ALIAS
FP634,H17,MC1DN19
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55572
MIM: 613622
HGNC: 26927
Ensembl: ENSG00000110074

Variants:

dbSNP: 55572
ClinVar: 55572
TCGA: ENSG00000110074
COSMIC: FOXRED1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110074ENST00000263578Q96CU9
ENSG00000110074ENST00000525770E9PNK9
ENSG00000110074ENST00000527004E9PP78
ENSG00000110074ENST00000532125Q96CU9

Expression (GTEx)

0
10
20
30
40
50
60
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
N/A

References

Pubmed IDYearTitleCitations
208183832010High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.118
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
256785542015Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
272153832016A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.7
257651522015A structural model for FOXRED1, an FAD-dependent oxidoreductase necessary for NADH: Ubiquinone oxidoreductase (complex I) assembly.3
262359392015Glutathione metabolism links FOXRED1 to NADH:ubiquinone oxidoreductase (complex I) deficiency: A hypothesis.2

Citation

Dessen P

FOXRED1 (FAD dependent oxidoreductase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63575/foxred1