FDXR ferredoxin reductase [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FDXR variants cause adrenal insufficiency and atypical sexual development.
Title: FDXR variants cause adrenal insufficiency and atypical sexual development.
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.
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
Title: FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
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.
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.
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.
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.
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.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78900 (e-PCR)
- UniSTS:82259

GDB:178571 (e-PCR)
- UniSTS:155023

FDXR__5184 (e-PCR)
- UniSTS:466173

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 more info	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

EC 1.18.1.6

NP_001244942.2

EC 1.18.1.6

NP_001244943.2

EC 1.18.1.6

NP_001244944.1

EC 1.18.1.6

NP_001244945.2

EC 1.18.1.6

NP_004101.3

EC 1.18.1.6

NP_077728.3

EC 1.18.1.6

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)

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
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
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
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
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]
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
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

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