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FDXR ferredoxin reductase [ Homo sapiens (human) ]

Gene ID: 2232, updated on 3-Nov-2024

Summary

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Official Symbol
FDXRprovided by HGNC
Official Full Name
ferredoxin reductaseprovided by HGNC
Primary source
HGNC:HGNC:3642
See related
Ensembl:ENSG00000161513 MIM:103270; AllianceGenome:HGNC:3642
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADR; ADXR; ANOA; MMDS9B
Summary
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]
Expression
Biased expression in adrenal (RPKM 75.2), testis (RPKM 17.3) and 5 other tissues See more
Orthologs
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Genomic context

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See FDXR in Genome Data Viewer
Location:
17q25.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74862497..74872994, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75754283..75764782, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72858619..72869119, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8941 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779452-72779972 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779973-72780491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72781052-72781552 Neighboring gene transmembrane protein 104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72808337-72809052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72824331-72824831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72827400-72828320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8944 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2C Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72850908-72851103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72856835-72857533 Neighboring gene Sharpr-MPRA regulatory region 86 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72870273-72871173 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4853 Neighboring gene Sharpr-MPRA regulatory region 12632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875167-72875668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875669-72876168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72878575-72879105 Neighboring gene fatty acid desaturase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12722 Neighboring gene USH1 protein network component sans

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. FDXR variants cause adrenal insufficiency and atypical sexual development. Pignatti E, et al. JCI Insight, 2024 Jun 17. PMID 38885337, Free PMC Article
  2. In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation. Cruz-Garcia L, et al. Int J Mol Sci, 2020 Oct 23. PMID 33113898, Free PMC Article
  3. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Stenton SL, et al. Hum Mutat, 2021 Mar. PMID 33348459
  4. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. Jurkute N, et al. Invest Ophthalmol Vis Sci, 2021 May 3. PMID 33938912, Free PMC Article
  5. FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. Paul A, et al. Am J Hum Genet, 2017 Oct 5. PMID 28965846, Free PMC Article

See all (76) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FDXR variants cause adrenal insufficiency and atypical sexual development.
    Title: FDXR variants cause adrenal insufficiency and atypical sexual development.
  2. FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.
    Title: FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.
  3. FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
    Title: FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
  4. FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
    Title: FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
  5. Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy.
    Title: Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy.
  6. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
    Title: Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
  7. Characterization of a Cleavable Fusion of Human CYP24A1 with Adrenodoxin Reveals the Variable Role of Hydrophobics in Redox Partner Binding.
    Title: Characterization of a Cleavable Fusion of Human CYP24A1 with Adrenodoxin Reveals the Variable Role of Hydrophobics in Redox Partner Binding.
  8. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
    Title: Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
  9. Substrate-induced modulation of protein-protein interactions within human mitochondrial cytochrome P450-dependent system.
    Title: Substrate-induced modulation of protein-protein interactions within human mitochondrial cytochrome P450-dependent system.
  10. In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation.
    Title: In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Auditory neuropathy-optic atrophy syndrome
MedGen: C4521678 OMIM: 617717 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADPH-adrenodoxin reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ferredoxin-NADP+ reductase activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in NADPH oxidation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
 PubMed 
involved_in steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
NADPH:adrenodoxin oxidoreductase, mitochondrial
Names
AR
adrenodoxin reductase
adrenodoxin-NADP(+) reductase
epididymis secretory sperm binding protein
ferredoxin--NADP(+) reductase
NP_001244941.2
NP_001244942.2
NP_001244943.2
NP_001244944.1
NP_001244945.2
NP_004101.3
NP_077728.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001258012.4 → NP_001244941.2  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an in-frame additional segment in the coding region, compared to variant 1. The resulting isoform (3) is longer than isoform 1.
    Source sequence(s)
    AC087651, AK295307, AW590330
    Consensus CDS
    CCDS58595.1
    UniProtKB/Swiss-Prot
    B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
    UniProtKB/TrEMBL
    A0A0A0MT64, Q6GSK2
    Related
    ENSP00000416515.2, ENST00000442102.6
    Conserved Domains (1) summary
    PLN02852
    Location:30 → 530
    PLN02852; ferredoxin-NADP+ reductase

  2. NM_001258013.4 → NP_001244942.2  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has a longer and alternate segment in the 5' coding region, compared to variant 1. The resulting isoform (4) is longer than isoform 1.
    Source sequence(s)
    AC087651, AK293208, AW590330, DA267443
    Consensus CDS
    CCDS58596.1
    UniProtKB/Swiss-Prot
    B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
    UniProtKB/TrEMBL
    A0A0A0MSZ4, Q6GSK2
    Related
    ENSP00000408595.2, ENST00000413947.6
    Conserved Domains (2) summary
    PLN02852
    Location:71 → 518
    PLN02852; ferredoxin-NADP+ reductase
    pfam13450
    Location:74 → 118
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

  3. NM_001258014.4 → NP_001244943.2  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an in-frame segment in the coding region, compared to variant 1. The resulting isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC087651, AK301779, AW590330
    Consensus CDS
    CCDS58592.1
    UniProtKB/Swiss-Prot
    B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
    UniProtKB/TrEMBL
    A0A0A0MTR6, Q6GSK2
    Related
    ENSP00000462183.1, ENST00000582944.5
    Conserved Domains (2) summary
    PLN02852
    Location:30 → 479
    PLN02852; ferredoxin-NADP+ reductase
    pfam13450
    Location:43 → 93
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

  4. NM_001258015.3 → NP_001244944.1  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 6 precursor

    See identical proteins and their annotated locations for NP_001244944.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AC087651, AK295307, AK298908, BC018911
    Consensus CDS
    CCDS58594.1
    UniProtKB/Swiss-Prot
    B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
    UniProtKB/TrEMBL
    Q6GSK2
    Related
    ENSP00000414172.2, ENST00000420580.6
    Conserved Domains (2) summary
    PLN02852
    Location:30 → 447
    PLN02852; ferredoxin-NADP+ reductase
    pfam13450
    Location:43 → 88
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

  5. NM_001258016.3 → NP_001244945.2  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (7) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC087651, AK301779, AK301977, BC018911
    Consensus CDS
    CCDS58591.1
    UniProtKB/TrEMBL
    A0A0A0MTN9, B4DDI9
    Related
    ENSP00000445432.1, ENST00000544854.5
    Conserved Domains (1) summary
    COG0493
    Location:10 → 435
    GltD; NADPH-dependent glutamate synthase beta chain or related oxidoreductase [Amino acid transport and metabolism, General function prediction only]

  6. NM_004110.6 → NP_004101.3  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_004101.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an in-frame additional segment in the coding region, compared to variant 1. The resulting isoform (2) is longer than isoform 1.
    Source sequence(s)
    AW590330, DA267443, J03826
    Consensus CDS
    CCDS11707.1
    UniProtKB/Swiss-Prot
    B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
    UniProtKB/TrEMBL
    A0A0C4DGN7, Q6GSK2
    Related
    ENSP00000462972.1, ENST00000581530.5
    Conserved Domains (2) summary
    PLN02852
    Location:30 → 493
    PLN02852; ferredoxin-NADP+ reductase
    pfam13450
    Location:43 → 87
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

  7. NM_024417.5 → NP_077728.3  NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_077728.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. It encodes isoform 1.
    Source sequence(s)
    BC018911, DA267443
    Consensus CDS
    CCDS58593.1
    UniProtKB/Swiss-Prot
    B4DDI7, B4DHX5, B4DQQ4, B4DX24, B7Z7G2, E7EQC1, P22570, Q13716, Q4PJI0, Q9BU12
    UniProtKB/TrEMBL
    A0A0C4DFN8, Q6GSK2
    Related
    ENSP00000293195.5, ENST00000293195.10
    Conserved Domains (2) summary
    PLN02852
    Location:30 → 487
    PLN02852; ferredoxin-NADP+ reductase
    pfam13450
    Location:43 → 87
    NAD_binding_8; NAD(P)-binding Rossmann-like domain

RNA

  1. NR_047576.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has an alternate splice site at the 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to inhibit translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC087651, AK293210, AK295307, BC018911
    Related
    ENST00000577509.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    74862497..74872994 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75754283..75764782 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P22570.3 GenPept UniProtKB/Swiss-Prot:P22570

Gene LinkOut

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