Details for: FXN

Gene ID: 2395

Symbol: FXN

Ensembl ID: ENSG00000165060

Description: frataxin

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.99
    Marker Score: 2080
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.76
    Marker Score: 1193
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.38
    Marker Score: 1034
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.18
    Marker Score: 18524
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.15
    Marker Score: 370
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.13
    Marker Score: 11654
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.04
    Marker Score: 1612
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.01
    Marker Score: 3966
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71739
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47963
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.96
    Marker Score: 35490
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2402
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 482
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.93
    Marker Score: 590
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 439
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.92
    Marker Score: 5884
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2711
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.9
    Marker Score: 5151
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.88
    Marker Score: 54393
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5250
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.83
    Marker Score: 7811
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.83
    Marker Score: 1945
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.82
    Marker Score: 3529
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.82
    Marker Score: 592
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.81
    Marker Score: 9173
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.81
    Marker Score: 6933
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.8
    Marker Score: 15979
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.8
    Marker Score: 7632
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.79
    Marker Score: 248
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.79
    Marker Score: 223
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.75
    Marker Score: 376
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 575
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 300
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 376
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.71
    Marker Score: 187
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.7
    Marker Score: 464
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.7
    Marker Score: 26434
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.69
    Marker Score: 489
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.68
    Marker Score: 14595
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.68
    Marker Score: 723
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2865
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 613
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.66
    Marker Score: 328
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.66
    Marker Score: 2749
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.66
    Marker Score: 1382
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.65
    Marker Score: 16746
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.65
    Marker Score: 324
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.65
    Marker Score: 1472
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.65
    Marker Score: 415
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.64
    Marker Score: 223
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.64
    Marker Score: 2464
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.61
    Marker Score: 252
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.6
    Marker Score: 181
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.6
    Marker Score: 1550
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.6
    Marker Score: 372
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.59
    Marker Score: 205
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.59
    Marker Score: 203
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.57
    Marker Score: 315
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.57
    Marker Score: 966.5
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.57
    Marker Score: 909
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.56
    Marker Score: 8323
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.56
    Marker Score: 222
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.56
    Marker Score: 911
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.55
    Marker Score: 9846
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.55
    Marker Score: 592
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.55
    Marker Score: 5558
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.55
    Marker Score: 328
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.55
    Marker Score: 1506
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.54
    Marker Score: 363
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.54
    Marker Score: 651
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 430
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.54
    Marker Score: 1262
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.53
    Marker Score: 145
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.53
    Marker Score: 107
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.53
    Marker Score: 221
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.53
    Marker Score: 132
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.52
    Marker Score: 1915
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.51
    Marker Score: 163
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.51
    Marker Score: 214
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.51
    Marker Score: 369
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.51
    Marker Score: 234
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.51
    Marker Score: 509
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.51
    Marker Score: 191
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.51
    Marker Score: 841
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.5
    Marker Score: 118
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5
    Marker Score: 1139
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.5
    Marker Score: 487
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.5
    Marker Score: 160
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.5
    Marker Score: 1177
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.49
    Marker Score: 634
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.49
    Marker Score: 16499
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.49
    Marker Score: 1031
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.48
    Marker Score: 203
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.47
    Marker Score: 730
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.47
    Marker Score: 402
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.47
    Marker Score: 243

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Other Information

**Key characteristics:** * The FXN gene is located on chromosome 15q21.1. * It is a large gene, encoding for a protein of approximately 1,600 amino acids. * The protein is a member of the ferritin superfamily of proteins. * Frataxin is a highly conserved protein, with a similar sequence found in fish and yeast. **Pathways and functions:** * Frataxin is involved in the biosynthesis and function of red blood cells. * It is a key regulator of red blood cell maturation and differentiation. * Mutations in the FXN gene have been linked to several human diseases, including frataxin-related ataxia. **Clinical significance:** * Mutations in the FXN gene can result in the production of a defective protein that is unable to function properly. * This can lead to the development of frataxin-related ataxia, a genetic disorder characterized by a variety of symptoms, including intellectual disability, seizures, and developmental delays. * Research on the FXN gene and its role in red blood cell maturation is ongoing, with potential implications for the diagnosis and treatment of human diseases.

Genular Protein ID: 324811028

Symbol: FRDA_HUMAN

Name: Friedreich ataxia protein

UniProtKB Accession Codes:

Q16595 A8MXJ6 C9JJ89 O15545 O95656 Q15294 Q5VZ01

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 6 EC 1 EMBL 17 EMDB 2 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 39 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 2 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 17 PDBsum 13 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 1 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TopDownProteomics 2 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8596916

Title: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

PubMed ID: 8596916

DOI: 10.1126/science.271.5254.1423

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18725397

Title: The in vivo mitochondrial two-step maturation of human frataxin.

PubMed ID: 18725397

DOI: 10.1093/hmg/ddn244

PubMed ID: 17468497

Title: In vivo maturation of human frataxin.

PubMed ID: 17468497

DOI: 10.1093/hmg/ddm102

PubMed ID: 20053667

Title: Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.

PubMed ID: 20053667

DOI: 10.1093/hmg/ddp592

PubMed ID: 9302253

Title: Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.

PubMed ID: 9302253

DOI: 10.1093/hmg/6.11.1771

PubMed ID: 9241270

Title: Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.

PubMed ID: 9241270

DOI: 10.1038/ng0897-345

PubMed ID: 10545606

Title: Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.

PubMed ID: 10545606

DOI: 10.1093/hmg/8.12.2255

PubMed ID: 10428860

Title: Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.

PubMed ID: 10428860

DOI: 10.1074/jbc.274.32.22763

PubMed ID: 11020385

Title: Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates.

PubMed ID: 11020385

DOI: 10.1074/jbc.m006539200

PubMed ID: 11823441

Title: Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.

PubMed ID: 11823441

DOI: 10.1093/hmg/11.3.217

PubMed ID: 12755598

Title: Structure of frataxin iron cores: an X-ray absorption spectroscopic study.

PubMed ID: 12755598

DOI: 10.1021/bi027021l

PubMed ID: 12785837

Title: Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins.

PubMed ID: 12785837

DOI: 10.1021/ja027967i

PubMed ID: 15123683

Title: Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis.

PubMed ID: 15123683

DOI: 10.1074/jbc.c400107200

PubMed ID: 15247478

Title: Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.

PubMed ID: 15247478

DOI: 10.1126/science.1098991

PubMed ID: 15641778

Title: Assembly of human frataxin is a mechanism for detoxifying redox-active iron.

PubMed ID: 15641778

DOI: 10.1021/bi048459j

PubMed ID: 15961414

Title: Frataxin interacts functionally with mitochondrial electron transport chain proteins.

PubMed ID: 15961414

DOI: 10.1093/hmg/ddi214

PubMed ID: 16239244

Title: Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

PubMed ID: 16239244

DOI: 10.1093/hmg/ddi393

PubMed ID: 16091420

Title: Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.

PubMed ID: 16091420

DOI: 10.1242/jcs.02516

PubMed ID: 15581888

Title: Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region.

PubMed ID: 15581888

DOI: 10.1016/j.jmb.2004.10.074

PubMed ID: 16608849

Title: A pool of extramitochondrial frataxin that promotes cell survival.

PubMed ID: 16608849

DOI: 10.1074/jbc.m511960200

PubMed ID: 17331979

Title: Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

PubMed ID: 17331979

DOI: 10.1093/hmg/ddm038

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21298097

Title: Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

PubMed ID: 21298097

DOI: 10.1371/journal.pone.0016199

PubMed ID: 24971490

Title: Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.

PubMed ID: 24971490

DOI: 10.1021/bi500532e

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26702583

Title: Mitochondrial Hspa9/Mortalin regulates erythroid differentiation via iron-sulfur cluster assembly.

PubMed ID: 26702583

DOI: 10.1016/j.mito.2015.12.005

PubMed ID: 29576242

Title: Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly.

PubMed ID: 29576242

DOI: 10.1016/j.jinorgbio.2018.03.007

PubMed ID: 10900192

Title: Crystal structure of human frataxin.

PubMed ID: 10900192

DOI: 10.1074/jbc.c000407200

PubMed ID: 10903947

Title: Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin.

PubMed ID: 10903947

DOI: 10.1016/s0969-2126(00)00158-1

PubMed ID: 31101807

Title: Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.

PubMed ID: 31101807

DOI: 10.1038/s41467-019-09989-y

PubMed ID: 9150176

Title: Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

PubMed ID: 9150176

PubMed ID: 9779809

Title: Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.

PubMed ID: 9779809

DOI: 10.1002/(sici)1096-8628(19981012)79:5<396::aid-ajmg13>3.3.co;2-b

PubMed ID: 10732799

Title: The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.

PubMed ID: 10732799

DOI: 10.1007/s100480050037

PubMed ID: 9989622

Title: Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

PubMed ID: 9989622

DOI: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u

PubMed ID: 10874325

Title: A novel missense mutation (L198R) in the Friedreich's ataxia gene.

PubMed ID: 10874325

DOI: 10.1002/1098-1004(200007)16:1<95::aid-humu29>3.0.co;2-e

PubMed ID: 19629184

Title: The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

PubMed ID: 19629184

DOI: 10.1371/journal.pone.0006379

Sequence Information:

  • Length: 210
  • Mass: 23135
  • Checksum: ECC81738779308CF
  • Sequence:
    • MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR 
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF 
EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS SGPKRYDWTG KNWVYSHDGV 
SLHELLAAEL TKALKTKLDL SSLAYSGKDA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.