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Protein

Frataxin, mitochondrial

Gene

FXN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe2+ to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe2+ to Fe3+; the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.6 Publications

Miscellaneous

The unusual migration profile of mature frataxin on SDS-PAGE due to its acidic N-terminus most likely contributed to conflicting reports for the N-terminus of the mature protein. Unlike prokaryotic and yeast frataxin homologs, which self-assemble at high iron concentrations, oligomerization of human frataxin is not induced by iron. The existence of a specialized mitochondrial ferritin in mammalia (FTMT) is suggesting that iron storage would be redundant function, at least in mammalian mitochondria.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processHeme biosynthesis, Ion transport, Iron storage, Iron transport, Transport
LigandIron, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1268020 Mitochondrial protein import
R-HSA-1362409 Mitochondrial iron-sulfur cluster biogenesis

Protein family/group databases

Transport Classification Database

More...
TCDBi
9.B.21.1.1 the frataxin (frataxin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Frataxin, mitochondrial (EC:1.16.3.1)
Alternative name(s):
Friedreich ataxia protein
Short name:
Fxn
Cleaved into the following 4 chains:
Alternative name(s):
m56-FXN
Alternative name(s):
d-FXN
m78-FXN
Alternative name(s):
Frataxin(81-210)
m81-FXN
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FXN
Synonyms:FRDA, X25
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000165060.11

Human Gene Nomenclature Database

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HGNCi
HGNC:3951 FXN

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606829 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q16595

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Friedreich ataxia (FRDA)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region.
See also OMIM:229300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016065106L → S in FRDA. 1 PublicationCorresponds to variant dbSNP:rs104894105EnsemblClinVar.1
Natural variantiVAR_002428122D → Y in FRDA. 3 PublicationsCorresponds to variant dbSNP:rs142157346Ensembl.1
Natural variantiVAR_002429130G → V in FRDA. 3 PublicationsCorresponds to variant dbSNP:rs104894107EnsemblClinVar.1
Natural variantiVAR_002430154I → F in FRDA; reduces interaction with LYRM4; the interaction is rescued by nickel; a murine cellular FRDA model, deleted for endogenous frataxin and expressing human mutant frataxin cDNA shows defects in mitochondrial structure, mitochondrial iron deposits, decreased enzymatic activity of some mitochondrial and cytoplasmic iron-sulfur cluster-containing enzymes, increased RNA-binding activity of ACO1 and increased sensitivity to oxidative stress. 4 PublicationsCorresponds to variant dbSNP:rs104894106EnsemblClinVar.1
Natural variantiVAR_002431155W → R in FRDA; reduces interaction with LYRM4; the interaction is rescued by nickel. 2 PublicationsCorresponds to variant dbSNP:rs138471431Ensembl.1
Natural variantiVAR_008139165R → C in FRDA; mild form. 1 PublicationCorresponds to variant dbSNP:rs138034837Ensembl.1
Natural variantiVAR_008140182L → F in FRDA. 1 PublicationCorresponds to variant dbSNP:rs139616452Ensembl.1
Natural variantiVAR_016066198L → R in FRDA. 1 PublicationCorresponds to variant dbSNP:rs144104124Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi39 – 40RR → GG: Abolishes cleavage to yield frataxin intermediate form and allows accumulation of frataxin(56-210) and frataxin(78-210). 1 Publication2
Mutagenesisi53 – 54RR → GG: No effect on processing of wild-type FXN. 2 Publications2
Mutagenesisi78 – 79LR → GG: Abolishes cleavage to yield frataxin mature form and allows accumulation of frataxin(56-210) and frataxin(78-210). 1 Publication2
Mutagenesisi79 – 80RK → GG: Abolishes cleavage to yield frataxin mature form and allows the accumulation of frataxin(56-210). 2 Publications2

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
2395

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
FXN

MalaCards human disease database

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MalaCardsi
FXN
MIMi229300 phenotype

Open Targets

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OpenTargetsi
ENSG00000165060

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
95 Friedreich ataxia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28369

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2321640

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FXN

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 41MitochondrionAdd BLAST41
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001012942 – 210Frataxin intermediate formAdd BLAST169
ChainiPRO_000001013056 – 210Frataxin(56-210)Add BLAST155
ChainiPRO_000039938878 – 210Frataxin(78-210)Add BLAST133
ChainiPRO_000028933181 – 210Frataxin mature formAdd BLAST130

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced when the normal maturation process is impaired; their physiological relevance is unsure.5 Publications

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q16595

MaxQB - The MaxQuant DataBase

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MaxQBi
Q16595

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q16595

PeptideAtlas

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PeptideAtlasi
Q16595

PRoteomics IDEntifications database

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PRIDEi
Q16595

ProteomicsDB human proteome resource

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ProteomicsDBi
60939
60940 [Q16595-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q16595-1 [Q16595-1]
Q16595-2 [Q16595-2]

2D gel databases

USC-OGP 2-DE database

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OGPi
Q16595

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q16595

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q16595

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000165060 Expressed in 205 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

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CleanExi
HS_FXN

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q16595 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q16595 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB022164
HPA068304

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (probable predominant form). Oligomer. Monomers and polymeric aggregates of >1 MDa have been isolated from mitochondria. A small fraction of heterologous overexpressed recombinant frataxin forms high-molecular wight aggregates that incoroprate iron (PubMed:11823441, PubMed:12755598, PubMed:15641778, PubMed:15581888). Interacts with LYRM4 (PubMed:17331979). Interacts with ACO1 (PubMed:20053667). Interacts with ISCU isoform 1 and isoform 2 (PubMed:12785837, PubMed:16091420). Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer (PubMed:15123683). Interacts with SDHA and SDHB (PubMed:15961414). Interacts with ACO2; the interaction is dependent on citrate (By similarity). Interacts with HSPA9 (PubMed:17331979, PubMed:26702583).By similarity11 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108677, 5 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q16595

Protein interaction database and analysis system

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IntActi
Q16595, 8 interactors

Molecular INTeraction database

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MINTi
Q16595

STRING: functional protein association networks

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STRINGi
9606.ENSP00000366482

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1210
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Database of protein disorder

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DisProti
DP00607

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q16595

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q16595

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q16595

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the frataxin family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3413 Eukaryota
COG1965 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005811
ENSGT00940000158634

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000190729

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005745

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q16595

KEGG Orthology (KO)

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KOi
K19054

Identification of Orthologs from Complete Genome Data

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OMAi
KQSVCLM

Database of Orthologous Groups

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OrthoDBi
EOG091G0UR5

Database for complete collections of gene phylogenies

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PhylomeDBi
Q16595

TreeFam database of animal gene trees

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TreeFami
TF318958

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.920.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017789 Frataxin
IPR002908 Frataxin/CyaY
IPR036524 Frataxin/CyaY_sf
IPR020895 Frataxin_CS

The PANTHER Classification System

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PANTHERi
PTHR16821 PTHR16821, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01491 Frataxin_Cyay, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00904 FRATAXIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01219 Frataxin_Cyay, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR03421 FeS_CyaY, 1 hit
TIGR03422 mito_frataxin, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01344 FRATAXIN_1, 1 hit
PS50810 FRATAXIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q16595-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC
60 70 80 90 100
TPRRASSNQR GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE
110 120 130 140 150
ETLDSLAEFF EDLADKPYTF EDYDVSFGSG VLTVKLGGDL GTYVINKQTP
160 170 180 190 200
NKQIWLSSPS SGPKRYDWTG KNWVYSHDGV SLHELLAAEL TKALKTKLDL
210
SSLAYSGKDA
Length:210
Mass (Da):23,135
Last modified:July 15, 1999 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iECC81738779308CF
GO
Isoform 2 (identifier: Q16595-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-210: SGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDLSSLAYSGKDA → RLTWLLWLFHP

Note: Not highly expressed and may be artifactual.
Show »
Length:171
Mass (Da):19,095
Checksum:i54BDD6A74B2D22C9
GO
Isoform 3 (identifier: Q16595-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-210: SGPKRYDWTG...SSLAYSGKDA → RYVVDLSVMT...SCWPQSSLKP

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:196
Mass (Da):21,416
Checksum:i306DDDE81A26C788
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti175Y → F in AAA98508 (PubMed:8596916).Curated1
Sequence conflicti175Y → F in AAA98510 (PubMed:8596916).Curated1
Sequence conflicti202S → W in AAA98508 (PubMed:8596916).Curated1
Sequence conflicti202S → W in AAA98510 (PubMed:8596916).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016065106L → S in FRDA. 1 PublicationCorresponds to variant dbSNP:rs104894105EnsemblClinVar.1
Natural variantiVAR_002428122D → Y in FRDA. 3 PublicationsCorresponds to variant dbSNP:rs142157346Ensembl.1
Natural variantiVAR_002429130G → V in FRDA. 3 PublicationsCorresponds to variant dbSNP:rs104894107EnsemblClinVar.1
Natural variantiVAR_002430154I → F in FRDA; reduces interaction with LYRM4; the interaction is rescued by nickel; a murine cellular FRDA model, deleted for endogenous frataxin and expressing human mutant frataxin cDNA shows defects in mitochondrial structure, mitochondrial iron deposits, decreased enzymatic activity of some mitochondrial and cytoplasmic iron-sulfur cluster-containing enzymes, increased RNA-binding activity of ACO1 and increased sensitivity to oxidative stress. 4 PublicationsCorresponds to variant dbSNP:rs104894106EnsemblClinVar.1
Natural variantiVAR_002431155W → R in FRDA; reduces interaction with LYRM4; the interaction is rescued by nickel. 2 PublicationsCorresponds to variant dbSNP:rs138471431Ensembl.1
Natural variantiVAR_008139165R → C in FRDA; mild form. 1 PublicationCorresponds to variant dbSNP:rs138034837Ensembl.1
Natural variantiVAR_008140182L → F in FRDA. 1 PublicationCorresponds to variant dbSNP:rs139616452Ensembl.1
Natural variantiVAR_016066198L → R in FRDA. 1 PublicationCorresponds to variant dbSNP:rs144104124Ensembl.1
Natural variantiVAR_049100202S → C. Corresponds to variant dbSNP:rs1052195Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001576161 – 210SGPKR…SGKDA → RLTWLLWLFHP in isoform 2. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_047282161 – 210SGPKR…SGKDA → RYVVDLSVMTGLGKTGCTPT TACPSMSCWPQSSLKP in isoform 3. CuratedAdd BLAST50

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U43747 mRNA Translation: AAA98510.1
U43752
, U43748, U43749, U43750, U43751 Genomic DNA Translation: AAA98508.1
U43753
, U43748, U43749, U43750, U43751 Genomic DNA Translation: AAA98509.1
AL162730 Genomic DNA No translation available.
BC023633 mRNA Translation: AAH23633.1
BC048097 mRNA Translation: AAH48097.1
Y13751 Genomic DNA Translation: CAA74077.1
AF028240 Genomic DNA Translation: AAB84047.1
U93173 Genomic DNA Translation: AAD00734.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS43834.1 [Q16595-3]
CCDS6626.1 [Q16595-1]

NCBI Reference Sequences

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RefSeqi
NP_000135.2, NM_000144.4 [Q16595-1]
NP_001155178.1, NM_001161706.1
NP_852090.1, NM_181425.2 [Q16595-3]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.20685

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000396364; ENSP00000379650; ENSG00000165060 [Q16595-2]
ENST00000396366; ENSP00000379652; ENSG00000165060 [Q16595-3]
ENST00000484259; ENSP00000419243; ENSG00000165060 [Q16595-1]
ENST00000643639; ENSP00000496143; ENSG00000165060 [Q16595-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2395

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2395

UCSC genome browser

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UCSCi
uc004agz.3 human [Q16595-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U43747 mRNA Translation: AAA98510.1
U43752
, U43748, U43749, U43750, U43751 Genomic DNA Translation: AAA98508.1
U43753
, U43748, U43749, U43750, U43751 Genomic DNA Translation: AAA98509.1
AL162730 Genomic DNA No translation available.
BC023633 mRNA Translation: AAH23633.1
BC048097 mRNA Translation: AAH48097.1
Y13751 Genomic DNA Translation: CAA74077.1
AF028240 Genomic DNA Translation: AAB84047.1
U93173 Genomic DNA Translation: AAD00734.1
CCDSiCCDS43834.1 [Q16595-3]
CCDS6626.1 [Q16595-1]
RefSeqiNP_000135.2, NM_000144.4 [Q16595-1]
NP_001155178.1, NM_001161706.1
NP_852090.1, NM_181425.2 [Q16595-3]
UniGeneiHs.20685

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EKGX-ray1.80A86-210[»]
1LY7NMR-A91-210[»]
3S4MX-ray1.30A82-210[»]
3S5DX-ray1.50A82-210[»]
3S5EX-ray1.31A82-210[»]
3S5FX-ray1.50A/B82-210[»]
3T3JX-ray1.70A82-210[»]
3T3KX-ray1.24A82-210[»]
3T3LX-ray1.15A82-210[»]
3T3TX-ray1.38A/B/C/D82-210[»]
3T3XX-ray1.57A/B82-210[»]
5KZ5electron microscopy14.30A/B/C/D/E/F/G/H/I/J/K/L42-210[»]
DisProtiDP00607
ProteinModelPortaliQ16595
SMRiQ16595
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108677, 5 interactors
CORUMiQ16595
IntActiQ16595, 8 interactors
MINTiQ16595
STRINGi9606.ENSP00000366482

Chemistry databases

ChEMBLiCHEMBL2321640

Protein family/group databases

TCDBi9.B.21.1.1 the frataxin (frataxin) family

PTM databases

iPTMnetiQ16595
PhosphoSitePlusiQ16595

Polymorphism and mutation databases

BioMutaiFXN

2D gel databases

OGPiQ16595

Proteomic databases

EPDiQ16595
MaxQBiQ16595
PaxDbiQ16595
PeptideAtlasiQ16595
PRIDEiQ16595
ProteomicsDBi60939
60940 [Q16595-2]
TopDownProteomicsiQ16595-1 [Q16595-1]
Q16595-2 [Q16595-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2395
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396364; ENSP00000379650; ENSG00000165060 [Q16595-2]
ENST00000396366; ENSP00000379652; ENSG00000165060 [Q16595-3]
ENST00000484259; ENSP00000419243; ENSG00000165060 [Q16595-1]
ENST00000643639; ENSP00000496143; ENSG00000165060 [Q16595-1]
GeneIDi2395
KEGGihsa:2395
UCSCiuc004agz.3 human [Q16595-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2395
DisGeNETi2395
EuPathDBiHostDB:ENSG00000165060.11

GeneCards: human genes, protein and diseases

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GeneCardsi
FXN
GeneReviewsiFXN
HGNCiHGNC:3951 FXN
HPAiCAB022164
HPA068304
MalaCardsiFXN
MIMi229300 phenotype
606829 gene
neXtProtiNX_Q16595
OpenTargetsiENSG00000165060
Orphaneti95 Friedreich ataxia
PharmGKBiPA28369

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3413 Eukaryota
COG1965 LUCA
GeneTreeiENSGT00390000005811
ENSGT00940000158634
HOGENOMiHOG000190729
HOVERGENiHBG005745
InParanoidiQ16595
KOiK19054
OMAiKQSVCLM
OrthoDBiEOG091G0UR5
PhylomeDBiQ16595
TreeFamiTF318958

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import
R-HSA-1362409 Mitochondrial iron-sulfur cluster biogenesis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
FXN human
EvolutionaryTraceiQ16595

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Frataxin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2395

Protein Ontology

More...
PROi
PR:Q16595

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165060 Expressed in 205 organ(s), highest expression level in right lobe of liver
CleanExiHS_FXN
ExpressionAtlasiQ16595 baseline and differential
GenevisibleiQ16595 HS

Family and domain databases

Gene3Di3.30.920.10, 1 hit
InterProiView protein in InterPro
IPR017789 Frataxin
IPR002908 Frataxin/CyaY
IPR036524 Frataxin/CyaY_sf
IPR020895 Frataxin_CS
PANTHERiPTHR16821 PTHR16821, 1 hit
PfamiView protein in Pfam
PF01491 Frataxin_Cyay, 1 hit
PRINTSiPR00904 FRATAXIN
SMARTiView protein in SMART
SM01219 Frataxin_Cyay, 1 hit
TIGRFAMsiTIGR03421 FeS_CyaY, 1 hit
TIGR03422 mito_frataxin, 1 hit
PROSITEiView protein in PROSITE
PS01344 FRATAXIN_1, 1 hit
PS50810 FRATAXIN_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFRDA_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q16595
Secondary accession number(s): A8MXJ6
, C9JJ89, O15545, O95656, Q15294, Q5VZ01
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: December 5, 2018
This is version 194 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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