FXN report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0035265Biological processorgan growth
GO_0007628Biological processadult walking behavior
GO_0010039Biological processresponse to iron ion
GO_0006119Biological processoxidative phosphorylation
GO_0046716Biological processmuscle cell cellular homeostasis
GO_0030307Biological processpositive regulation of cell growth
GO_0018283Biological processiron incorporation into metallo-sulfur cluster
GO_0090201Biological processnegative regulation of release of cytochrome c from mitochondria
GO_0016540Biological processprotein autoprocessing
GO_0046621Biological processnegative regulation of organ growth
GO_0009792Biological processembryo development ending in birth or egg hatching
GO_0006783Biological processheme biosynthetic process
GO_0006826Biological processiron ion transport
GO_0044572Biological process[4Fe-4S] cluster assembly
GO_0040015Biological processnegative regulation of multicellular organism growth
GO_0043085Biological processpositive regulation of catalytic activity
GO_0051349Biological processpositive regulation of lyase activity
GO_0016226Biological processiron-sulfur cluster assembly
GO_0007005Biological processmitochondrion organization
GO_0043066Biological processnegative regulation of apoptotic process
GO_0006879Biological processintracellular iron ion homeostasis
GO_1904231Biological processpositive regulation of succinate dehydrogenase activity
GO_0044571Biological process[2Fe-2S] cluster assembly
GO_0008284Biological processpositive regulation of cell population proliferation
GO_0019230Biological processproprioception
GO_0010722Biological processregulation of ferrochelatase activity
GO_1904234Biological processpositive regulation of aconitate hydratase activity
GO_0070301Biological processcellular response to hydrogen peroxide
GO_0099128Cellular componentmitochondrial [2Fe-2S] assembly complex
GO_0005739Cellular componentmitochondrion
GO_1990229Cellular componentiron-sulfur cluster assembly complex
GO_0005829Cellular componentcytosol
GO_0005759Cellular componentmitochondrial matrix
GO_1990221Cellular componentL-cysteine desulfurase complex
GO_0004322Molecular functionferroxidase activity
GO_0034986Molecular functioniron chaperone activity
GO_0008198Molecular functionferrous iron binding
GO_0008199Molecular functionferric iron binding
GO_0051537Molecular function2 iron, 2 sulfur cluster binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameFXN
Protein nameFrataxin
Frataxin, mitochondrial (EC 1.16.3.1)
Frataxin, mitochondrial (EC 1.16.3.1) (Friedreich ataxia protein) (Fxn) [Cleaved into: Frataxin intermediate form (i-FXN); Frataxin(56-210) (m56-FXN); Frataxin(78-210) (d-FXN) (m78-FXN); Frataxin mature form (Frataxin(81-210)) (m81-FXN); Extramitochondrial frataxin]
SynonymsFRDA
X25
hCG_2042989
DescriptionFUNCTION: [Frataxin mature form]: Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly . Accelerates sulfur transfer from NFS1 persulfide intermediate to ISCU and to small thiols such as L-cysteine and glutathione leading to persulfuration of these thiols and ultimately sulfide release . Binds ferrous ion and is released from FXN upon the addition of both L-cysteine and reduced FDX2 during [2Fe-2S] cluster assembly . The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity). 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 . May function as an iron chaperone protein that protects the aconitase [4Fe-4S]2+ cluster from disassembly and promotes enzyme reactivation . May play a role as a high affinity iron binding partner for FECH that is capable of both delivering iron to ferrochelatase and mediating the terminal step in mitochondrial heme biosynthesis . .; FUNCTION: [Extramitochondrial frataxin]: Modulates the RNA-binding activity of ACO1 . May be involved in the cytoplasmic iron-sulfur protein biogenesis . May contribute to oxidative stress resistance and overall cell survival . .

AccessionsENST00000644653.1
ENST00000396366.6 [Q16595-3]
A0A0S2Z3Q8
Q16595
A0A0S2Z3G4
ENST00000377270.8
ENST00000484259.3 [Q16595-1]
ENST00000498653.5
ENST00000645088.1
C9JAX1