FDXR

Protein identityUniProt · HPA

UniProt accession

P22570

Gene

FDXR

Ensembl

ENSG00000161513

Chromosome

17

Canonical length

491 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

Canonical amino-acid sequenceUniProt

491 residues, UniProt reviewed canonical sequence.

>P22570|FDXR
     1  MASRCWRWWG WSAWPRTRLP PAGSTPSFCH HFSTQEKTPQ ICVVGSGPAG FYTAQHLLKH
    61  PQAHVDIYEK QPVPFGLVRF GVAPDHPEVK NVINTFTQTA HSGRCAFWGN VEVGRDVTVP
   121  ELREAYHAVV LSYGAEDHRA LEIPGEELPG VCSARAFVGW YNGLPENQEL EPDLSCDTAV
   181  ILGQGNVALD VARILLTPPE HLERTDITKA ALGVLRQSRV KTVWLVGRRG PLQVAFTIKE
   241  LREMIQLPGA RPILDPVDFL GLQDKIKEVP RPRKRLTELL LRTATEKPGP AEAARQASAS
   301  RAWGLRFFRS PQQVLPSPDG RRAAGVRLAV TRLEGVDEAT RAVPTGDMED LPCGLVLSSI
   361  GYKSRPVDPS VPFDSKLGVI PNVEGRVMDV PGLYCSGWVK RGPTGVIATT MTDSFLTGQM
   421  LLQDLKAGLL PSGPRPGYAA IQALLSSRGV RPVSFSDWEK LDAEEVARGQ GTGKPREKLV
   481  DPQEMLRLLG H

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FDXR 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

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

340 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FDXR.

Disease | AllUniProt

Conditions FDXR is implicated in, by any mechanism.

• Auditory neuropathy and optic atrophy (ANOA) MIM:617717
• Multiple mitochondrial dysfunctions syndrome 9B (MMDS9B) MIM:620887

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 216 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Auditory neuropathy-optic atrophy syndrome
• Multiple mitochondrial dysfunctions syndrome 9b
• Inborn genetic diseases
• FDXR-related disorder
• FDXR-related mitochondrial 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)

0.82

gnomAD pLI

0

gnomAD missense Z

0.91

DepMap mean gene effect

-0.56

DepMap dependency class

common

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

• cholesterol metabolic process
• generation of precursor metabolites and energy
• steroid biosynthetic process
• ubiquinone biosynthetic process

Molecular functions

• ferredoxin-NADP+ reductase activity

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• FAD/NAD(P)-binding domain superfamily
• NAD(P)-binding Rossmann-like domain
• Ferredoxin-NADP+ reductase, adrenodoxin-type
• Ferredoxin-NADP reductase-like

KeywordsUniProt

• Cholesterol metabolism
• Deafness
• Electron transport
• FAD
• Flavoprotein
• Lipid metabolism
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• NADP
• Neurodegeneration
• Neuropathy
• Oxidoreductase
• Phosphoprotein
• Steroid metabolism
• Sterol metabolism
• Transit peptide
• Transport

InteractionsUniProt · HPA

Protein binding partners of FDXR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FDX1