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FXN

GENERAL INFORMATION

Gene name

 FXN

Gene description

 Frataxin

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins
Transporters

Predicted localization

 Intracellular,Secreted

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression with a granular, mitochondrial pattern in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA068304
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 FXN (HGNC Symbol)

Synonyms

 CyaY, FA, FARR, FRDA, X25

Description

 Frataxin (HGNC Symbol)

Entrez gene summary

 This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

Chromosome

 9

Cytoband

 q21.11

Chromosome location (bp)

 69035259 - 69100178

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000165060 (version 83.38)

Entrez gene

 2395

UniProt

 Q16595 (UniProt - Evidence at protein level)

neXtProt

 NX_Q16595

Antibodypedia

 FXN antibodies

PROTEIN BROWSER
FXN-001
FXN-003
FXN-004
FXN-005
FXN-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
FXN-001
ENSP00000366482
ENST00000377270
Q16595 [Direct mapping]
Frataxin, mitochondrial Frataxin intermediate form Frataxin(56-210) Frataxin(78-210) Frataxin mature form
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Enzymes
   ENZYME proteins
   Oxidoreductases
Transporters
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004322 [ferroxidase activity]
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006119 [oxidative phosphorylation]
GO:0006783 [heme biosynthetic process]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0007005 [mitochondrion organization]
GO:0007628 [adult walking behavior]
GO:0008198 [ferrous iron binding]
GO:0008199 [ferric iron binding]
GO:0008284 [positive regulation of cell proliferation]
GO:0009060 [aerobic respiration]
GO:0009792 [embryo development ending in birth or egg hatching]
GO:0010039 [response to iron ion]
GO:0010722 [regulation of ferrochelatase activity]
GO:0016226 [iron-sulfur cluster assembly]
GO:0016540 [protein autoprocessing]
GO:0018283 [iron incorporation into metallo-sulfur cluster]
GO:0019230 [proprioception]
GO:0030307 [positive regulation of cell growth]
GO:0034986 [iron chaperone activity]
GO:0040015 [negative regulation of multicellular organism growth]
GO:0043066 [negative regulation of apoptotic process]
GO:0044281 [small molecule metabolic process]
GO:0046621 [negative regulation of organ growth]
GO:0048554 [positive regulation of metalloenzyme activity]
GO:0051349 [positive regulation of lyase activity]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0055114 [oxidation-reduction process]
GO:0070301 [cellular response to hydrogen peroxide]
GO:0090201 [negative regulation of release of cytochrome c from mitochondria]
GO:1904231 [positive regulation of succinate dehydrogenase activity]
GO:1904234 [positive regulation of aconitate hydratase activity]
Show all
 210 aa
23.1 kDa 		Yes 0
FXN-003
ENSP00000418015
ENST00000498653
C9JAX1 [Direct mapping]
Frataxin, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004322 [ferroxidase activity]
GO:0005739 [mitochondrion]
GO:0008199 [ferric iron binding]
GO:0016226 [iron-sulfur cluster assembly]
GO:0055114 [oxidation-reduction process]
Show all
 135 aa
14.9 kDa 		No 0
FXN-004
ENSP00000379652
ENST00000396366
Q16595 [Direct mapping]
Frataxin, mitochondrial Frataxin intermediate form Frataxin(56-210) Frataxin(78-210) Frataxin mature form
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Transporters
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004322 [ferroxidase activity]
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006783 [heme biosynthetic process]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0008198 [ferrous iron binding]
GO:0008199 [ferric iron binding]
GO:0008284 [positive regulation of cell proliferation]
GO:0010039 [response to iron ion]
GO:0010722 [regulation of ferrochelatase activity]
GO:0016226 [iron-sulfur cluster assembly]
GO:0016540 [protein autoprocessing]
GO:0018283 [iron incorporation into metallo-sulfur cluster]
GO:0030307 [positive regulation of cell growth]
GO:0034986 [iron chaperone activity]
GO:0043066 [negative regulation of apoptotic process]
GO:0044281 [small molecule metabolic process]
GO:0048554 [positive regulation of metalloenzyme activity]
GO:0051349 [positive regulation of lyase activity]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0070301 [cellular response to hydrogen peroxide]
GO:0090201 [negative regulation of release of cytochrome c from mitochondria]
GO:1904231 [positive regulation of succinate dehydrogenase activity]
GO:1904234 [positive regulation of aconitate hydratase activity]
Show all
 196 aa
21.4 kDa 		Yes 0
FXN-005
ENSP00000419243
ENST00000484259
H7C585 [Direct mapping]
Frataxin, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004322 [ferroxidase activity]
GO:0005739 [mitochondrion]
GO:0008199 [ferric iron binding]
GO:0016226 [iron-sulfur cluster assembly]
GO:0055114 [oxidation-reduction process]
Show all
 108 aa
11.9 kDa 		No 0
FXN-201
ENSP00000379650
ENST00000396364
Q16595 [Direct mapping]
Frataxin, mitochondrial Frataxin intermediate form Frataxin(56-210) Frataxin(78-210) Frataxin mature form
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Transporters
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004322 [ferroxidase activity]
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006783 [heme biosynthetic process]
GO:0006811 [ion transport]
GO:0006879 [cellular iron ion homeostasis]
GO:0008198 [ferrous iron binding]
GO:0008199 [ferric iron binding]
GO:0008284 [positive regulation of cell proliferation]
GO:0010039 [response to iron ion]
GO:0010722 [regulation of ferrochelatase activity]
GO:0016226 [iron-sulfur cluster assembly]
GO:0016540 [protein autoprocessing]
GO:0018283 [iron incorporation into metallo-sulfur cluster]
GO:0030307 [positive regulation of cell growth]
GO:0034986 [iron chaperone activity]
GO:0043066 [negative regulation of apoptotic process]
GO:0044281 [small molecule metabolic process]
GO:0048554 [positive regulation of metalloenzyme activity]
GO:0051349 [positive regulation of lyase activity]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0070301 [cellular response to hydrogen peroxide]
GO:0090201 [negative regulation of release of cytochrome c from mitochondria]
GO:1904231 [positive regulation of succinate dehydrogenase activity]
GO:1904234 [positive regulation of aconitate hydratase activity]
Show all
 171 aa
19.1 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.