FDX1 ferredoxin 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: FDX1provided by HGNC
Official Full Name: ferredoxin 1provided by HGNC
Primary source: HGNC:3638
See related: Ensembl:ENSG00000137714; HPRD:00059; MIM:103260; Vega:OTTHUMG00000166589
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: ADX; FDX; LOH11CR1D
Summary: This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]

Genomic context

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Location :: 11q22

Sequence :: Chromosome: 11; NC_000011.9 (110300661..110335608)

See FDX1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data suggest that interference with any of the three related genes, ferredoxin (FDX)1, FDX2 or FDXR, disrupts iron-sulfur cluster assembly and maintenance of normal cytosolic and mitochondrial iron homeostasis.
Title: Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis.
Results present the crystal structure of the complex of human adrenodoxin and CYP11A1--the first of a complex between a eukaryotic CYP and its redox partner.
Title: Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Unlike Fdx1, Fdx2 was unable to efficiently reduce mitochondrial cytochromes P450 and convert steroids, indicating that the two ferredoxin isoforms are highly specific for their substrates in distinct biochemical pathways.
Title: Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
ADX rate of hydroxylation was linear with incubation time.
Title: Metabolism of 25-hydroxyvitamin D3 by microsomal and mitochondrial vitamin D3 25-hydroxylases (CYP2D25 and CYP27A1): a novel reaction by CYP27A1.
Adrenodoxin induces apoptosis by the generation of reactive oxygen species in mitochondria
Title: Adrenodoxin (Adx) and CYP11A1 (P450scc) induce apoptosis by the generation of reactive oxygen species in mitochondria.
Adx is able to support reactions catalyzed by human microsomal P450s: full length CYP17, truncated CYP17, and truncated CYP21
Title: Adrenodoxin supports reactions catalyzed by microsomal steroidogenic cytochrome P450s.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P10109	P99999	CYCS	HPRD	PubMed
P10109	P05108	CYP11A1	HPRD	PubMed
P10109	P19099	CYP11B2	HPRD	PubMed
P10109	P10109	FDX1	HPRD	PubMed
P10109	P22570	FDXR	HPRD	PubMed
BioGRID:108521	BioGRID:107955	CYP11A1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108521	BioGRID:111552	PRKAB2	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Electron Transport from NADPH to Ferredoxin, organism-specific biosystem (from REACTOME)
Electron Transport from NADPH to Ferredoxin, organism-specific biosystemNADPH, ferredoxin reductase (FDXR, Adrenodoxin reductase), and ferredoxins (FDX1, FDX1L) comprise a short electron transport chain that provides electrons for biosynthesis of iron-sulfur clusters and...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Mitochondrial Iron-Sulfur Cluster Biogenesis, organism-specific biosystem (from REACTOME)
Mitochondrial Iron-Sulfur Cluster Biogenesis, organism-specific biosystemIron-sulfur (Fe-S) proteins are localized in the cytosol, nucleus, and mitochondria of mammalian cells (reviewed in Stemmler et al. 2010, Rouault 2012, Bandyopadhyay et al. 2008, Lill 2009, Lill et a...

General gene information

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Markers

RH67935 (e-PCR)
- UniSTS:92464

D11S1300 (e-PCR), detects polymorphism
- UniSTS:87091

GDB:197839 (e-PCR)
- UniSTS:155959

G64373 (e-PCR)
- UniSTS:163669

D11S1300 (e-PCR), detects polymorphism
- UniSTS:30565

A004I10 (e-PCR)
- UniSTS:62837

RH28627 (e-PCR)
- UniSTS:85380

D4S3130 (e-PCR)
- UniSTS:41878

RH36031 (e-PCR)
- UniSTS:30112

RH69129 (e-PCR)
- UniSTS:85994

Homology

Homologs of the FDX1 gene: The FDX1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, fruit fly, and mosquito.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
2 iron, 2 sulfur cluster binding	IDA Inferred from Direct Assay more info
electron carrier activity	IDA Inferred from Direct Assay more info
iron ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
cholesterol metabolic process	IDA Inferred from Direct Assay more info
electron transport chain	IEA Inferred from Electronic Annotation more info
hormone biosynthetic process	IDA Inferred from Direct Assay more info
small molecule metabolic process	TAS Traceable Author Statement more info
steroid biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: adrenodoxin, mitochondrial

Names: adrenodoxin, mitochondrial; ferredoxin-1; hepatoredoxin; adrenal ferredoxin; mitochondrial adrenodoxin

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_004109.4 → NP_004100.1 adrenodoxin, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AA505582, BC010284, CN333249, DB459133

Consensus CDS

CCDS8344.1

UniProtKB/Swiss-Prot

P10109

Related

ENSP00000260270, OTTHUMP00000233613, ENST00000260270, OTTHUMT00000390590

Conserved Domains (1) summary

cd00207
Location:72 – 166
Blast Score: 95

fer2; 2Fe-2S iron-sulfur cluster binding domain. Iron-sulfur proteins play an important role in electron transfer processes and in various enzymatic reactions. The family includes plant and algal ferredoxins, which act as electron carriers in photosynthesis ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p10 Primary Assembly

Range

110300661..110335608

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

106225358..106260247

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018922.1 Alternate CHM1_1.0

Range

110163972..110198916

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01039831.1 (194141..229030)	None
genomic	AMYH01004028.1 (125787..160731)	None
genomic	AP000924.7 (62971..97982)	None
genomic	CH471065.1	EAW67132.1
genomic	EF444978.1	ACA05992.1
genomic	M23665.1	AAA50462.1
genomic	M23668.1	AAA50462.1
genomic	M34785.1	AAA35855.1
genomic	M34786.1	AAA35856.1
mRNA	AA505582.1	None
mRNA	AB096243.1	None
mRNA	BC010284.1	AAH10284.1
mRNA	BC017063.1	AAH17063.1
mRNA	BQ650029.1	None
mRNA	BT006681.1	AAP35327.1
mRNA	CN333249.1	None
mRNA	DB459133.1	None
mRNA	J03548.1	AAA96806.1
mRNA	M18003.1	AAA76853.1
mRNA	M34788.1	AAA35829.1