FXN [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= FXN =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: FXN
  * **<color #00a2e8>Official Name</color>**: frataxin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2395|2395]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q16595|Q16595]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FXN&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FXN|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606829|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) 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 Fe(2+) to Fe(3+); 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. {ECO:0000269|PubMed:12785837, ECO:0000269|PubMed:15247478, ECO:0000269|PubMed:15641778, ECO:0000269|PubMed:16239244, ECO:0000269|PubMed:16608849, ECO:0000269|PubMed:20053667}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Frataxin Cyay|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulation of ferrochelatase activity|
|L-cysteine desulfurase complex|
|metal incorporation into metallo-sulfur cluster|
|regulation of succinate dehydrogenase activity|
|iron chaperone activity|
|iron incorporation into metallo-sulfur cluster|
|positive regulation of succinate dehydrogenase activity|
|regulation of aconitate hydratase activity|
|positive regulation of aconitate hydratase activity|
|proprioception|
|ferroxidase activity|
|negative regulation of multicellular organism growth|
|ferric iron binding|
|protein autoprocessing|
|neuromuscular process controlling posture|
|negative regulation of release of cytochrome c from mitochondria|
|metallo-sulfur cluster assembly|
|iron-sulfur cluster assembly|
|2 iron, 2 sulfur cluster binding|
|heme biosynthetic process|
|positive regulation of lyase activity|
|ferrous iron binding|
|porphyrin-containing compound biosynthetic process|
|tetrapyrrole biosynthetic process|
|adult walking behavior|
|heme metabolic process|
|walking behavior|
|negative regulation of organ growth|
|response to iron ion|
|porphyrin-containing compound metabolic process|
|regulation of lyase activity|
|regulation of release of cytochrome c from mitochondria|
|pigment biosynthetic process|
|positive regulation of oxidoreductase activity|
|negative regulation of mitochondrion organization|
|tetrapyrrole metabolic process|
|cellular iron ion homeostasis|
|pigment metabolic process|
|regulation of multicellular organism growth|
|cellular response to hydrogen peroxide|
|adult locomotory behavior|
|aerobic respiration|
|iron ion homeostasis|
|regulation of organ growth|
|regulation of oxidoreductase activity|
|negative regulation of developmental growth|
|cellular transition metal ion homeostasis|
|neuromuscular process|
|oxidative phosphorylation|
|cellular response to antibiotic|
|response to hydrogen peroxide|
|cellular response to reactive oxygen species|
|transition metal ion homeostasis|
|adult behavior|
|protein processing|
|positive regulation of cell growth|
|cellular respiration|
|regulation of mitochondrion organization|
|response to reactive oxygen species|
|locomotory behavior|
|ATP metabolic process|
|cofactor biosynthetic process|
|cellular response to toxic substance|
|negative regulation of apoptotic signaling pathway|
|protein maturation|
|energy derivation by oxidation of organic compounds|
|cellular response to oxidative stress|
|negative regulation of growth|
|positive regulation of growth|
|response to antibiotic|
|regulation of developmental growth|
|sulfur compound metabolic process|
|mitochondrial matrix|
|response to metal ion|
|negative regulation of organelle organization|
|response to oxidative stress|
|regulation of apoptotic signaling pathway|
|cellular response to drug|
|regulation of cell growth|
|generation of precursor metabolites and energy|
|cofactor metabolic process|
|mitochondrion organization|
|response to toxic substance|
|response to inorganic substance|
|cellular metal ion homeostasis|
|behavior|
|metal ion homeostasis|
|cellular cation homeostasis|
|cellular ion homeostasis|
|embryo development ending in birth or egg hatching|
|regulation of growth|
|negative regulation of cellular component organization|
|cation homeostasis|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|ion homeostasis|
|negative regulation of apoptotic process|
|cellular homeostasis|
|negative regulation of programmed cell death|
|positive regulation of cell population proliferation|
|negative regulation of developmental process|
|oxidation-reduction process|
|sensory perception|
|embryo development|
|negative regulation of cell death|
|response to drug|
|cellular response to oxygen-containing compound|
|chemical homeostasis|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|negative regulation of multicellular organismal process|
|mitochondrion|
|negative regulation of signal transduction|
|proteolysis|
|phosphorylation|
|regulation of organelle organization|
|organic cyclic compound biosynthetic process|
|negative regulation of cell communication|
|negative regulation of signaling|
|ion transport|
|nervous system process|
|organonitrogen compound biosynthetic process|
|positive regulation of catalytic activity|
|regulation of apoptotic process|
|response to oxygen-containing compound|
|regulation of programmed cell death|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|cellular nitrogen compound biosynthetic process|
|homeostatic process|
|regulation of cell death|
|cellular response to stress|
|small molecule metabolic process|
|positive regulation of molecular function|
|system process|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 153/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|3/28|
|blood|3/28|
|bone|9/26|
|breast|6/33|
|central nervous system|15/56|
|cervix|1/4|
|colorectal|2/17|
|esophagus|5/13|
|fibroblast|0/1|
|gastric|3/16|
|kidney|5/21|
|liver|6/20|
|lung|9/75|
|lymphocyte|4/16|
|ovary|8/26|
|pancreas|4/24|
|peripheral nervous system|6/16|
|plasma cell|1/15|
|prostate|0/1|
|skin|6/24|
|soft tissue|1/9|
|thyroid|1/2|
|upper aerodigestive|4/22|
|urinary tract|5/29|
|uterus|2/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1609
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.02 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FXN Expression in NALM6 Cells: 4.02'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>