Seroatlas · Human Serome Atlas

FOXRED1

FAD-dependent oxidoreductase domain-containing protein 1

Also known as: FXRD1_HUMAN, H17

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96CU9
Gene: FOXRED1
Ensembl: ENSG00000110074
Chromosome: 11
Canonical length: 486 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

486 residues, UniProt reviewed canonical sequence.

>Q96CU9|FOXRED1
     1  MIRRVLPHGM GRGLLTRRPG TRRGGFSLDW DGKVSEIKKK IKSILPGRSC DLLQDTSHLP
    61  PEHSDVVIVG GGVLGLSVAY WLKKLESRRG AIRVLVVERD HTYSQASTGL SVGGICQQFS
   121  LPENIQLSLF SASFLRNINE YLAVVDAPPL DLRFNPSGYL LLASEKDAAA MESNVKVQRQ
   181  EGAKVSLMSP DQLRNKFPWI NTEGVALASY GMEDEGWFDP WCLLQGLRRK VQSLGVLFCQ
   241  GEVTRFVSSS QRMLTTDDKA VVLKRIHEVH VKMDRSLEYQ PVECAIVINA AGAWSAQIAA
   301  LAGVGEGPPG TLQGTKLPVE PRKRYVYVWH CPQGPGLETP LVADTSGAYF RREGLGSNYL
   361  GGRSPTEQEE PDPANLEVDH DFFQDKVWPH LALRVPAFET LKVQSAWAGY YDYNTFDQNG
   421  VVGPHPLVVN MYFATGFSGH GLQQAPGIGR AVAEMVLKGR FQTIDLSPFL FTRFYLGEKI
   481  QENNII

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FOXRED1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 34 nTPM

Expression across tissuesHPA

Tissue

liver: 34 nTPM
choroid plexus: 28 nTPM
tongue: 27 nTPM
heart muscle: 17 nTPM
cerebral cortex: 14 nTPM
skeletal muscle: 14 nTPM

Single-cell type

myonuclei: 62 nCPM
early primary spermatocytes: 59 nCPM
rod photoreceptor cells: 54 nCPM
cytotrophoblasts: 52 nCPM
plasma cells: 52 nCPM
müller glia: 45 nCPM

Immune cell

intermediate monocyte: 12 nTPM
plasmacytoid DC: 10 nTPM
myeloid DC: 9.3 nTPM
non-classical monocyte: 7 nTPM
NK-cell: 6.8 nTPM
total PBMC: 6.7 nTPM

Brain region

medulla oblongata: 6.9 nTPM
pons: 6.9 nTPM
cerebral cortex: 6.8 nTPM
choroid plexus: 6.8 nTPM
cerebellum: 6.6 nTPM
thalamus: 6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FOXRED1.

Disease | AllUniProt

Conditions FOXRED1 is implicated in, by any mechanism.

Mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) MIM:618241

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 544 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mitochondrial complex I deficiency, nuclear type 19
Leigh syndrome
Inborn genetic diseases
Mitochondrial disease
FOXRED1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.32
gnomAD pLI: 0
gnomAD missense Z: -0.4
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

mitochondrial respiratory chain complex I assembly

Molecular functions

oxidoreductase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FOXRED1 as an antibody target. Whether an autoantibody or antibody against FOXRED1 could matter depends on whether native FOXRED1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FOXRED1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FOXRED1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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