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APPBP2 | amyloid beta precursor protein (cytoplasmic tail) binding protein 2; May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface (585 aa) | |||
YAE1D1 | Yae1 domain containing 1 (226 aa) | |||
PACSIN1 | protein kinase C and casein kinase substrate in neurons 1; Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the [...] (444 aa) | |||
HELB | helicase (DNA) B; Unwinds duplex DNA with 5’-3’ polarity. Has single- strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates. During S phase, may facilitate cellular recovery from replication stress (1087 aa) | |||
KLC4 | kinesin light chain 4; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity) (637 aa) | |||
TTC19 | tetratricopeptide repeat domain 19; Mitochondrial protein required for formation of the mitochondrial complex III (PubMed-21278747). May also be required for the abcission step in cytokinesis, possibly regulating the ESCRT-III complex via its interaction with CHMP4B (PubMed-20208530). However, the involvement in cytokinesis requires additional experimental evidence (501 aa) | |||
PRDX1 | peroxiredoxin 1; Involved in redox regulation of the cell. Reduces peroxides with reducing equivalents provided through the thioredoxin system but not from glutaredoxin. May play an important role in eliminating peroxides generated during metabolism. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2). Reduces an intramolecular disulfide bond in GDPD5 that gates the ability to GDPD5 to drive postmitotic motor neuron differentiation (By similarity) (199 aa) | |||
PACSIN2 | protein kinase C and casein kinase substrate in neurons 2; Plays a role in the formation of normal, flask-shaped caveolae at the cell membrane. Recruits DNM2 to caveolae, and thereby plays a role in caveola-mediated endocytosis. Plays a role in intracellular vesicle-mediated transport. Binds to membranes via its F-BAR domain and promotes membrane tubulation. Plays a role in the internalization of cell-surface receptors. Is not required for internalization of EGFR after EGF stimulus, but contributes to the internalization of EGFR in the absence of EGF stimulus (486 aa) | |||
RAD50 | RAD50 homolog (S. cerevisiae); Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3’-5’ exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the n [...] (1312 aa) | |||
PIF1 | PIF1 5’-to-3’ DNA helicase homolog (S. cerevisiae); DNA-dependent ATPase and DNA helicase inhibiting telomerase activity by unwinding DNA/RNA duplex formed by telomerase RNA and telomeric DNA in a 5’ to 3’ polarity. Negatively regulates telomere length and such inhibition requires its ATPase activity. Tightly cell cycle regulated and expressed in late S/G2 phase (641 aa) | |||
PRDX3 | peroxiredoxin 3; Involved in redox regulation of the cell. Protects radical-sensitive enzymes from oxidative damage by a radical- generating system. Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol (256 aa) | |||
PACSIN3 | protein kinase C and casein kinase substrate in neurons 3; May play a role in endocytosis (By similarity) (424 aa) | |||
PRDX2 | peroxiredoxin 2; Involved in redox regulation of the cell. Reduces peroxides with reducing equivalents provided through the thioredoxin system. It is not able to receive electrons from glutaredoxin. May play an important role in eliminating peroxides generated during metabolism. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2) (198 aa) | |||
SLC25A33 | solute carrier family 25 (pyrimidine nucleotide carrier), member 33; Probable mitochondrial transporter which participates in dendritic cell endocytosis. May associate with mitochondrial oxidative phosphorylation (321 aa) | |||
GLUL | glutamate-ammonia ligase; This enzyme has 2 functions- it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts (373 aa) | |||
KLC2 | kinesin light chain 2; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity) (622 aa) | |||
NPHP3 | nephronophthisis 3 (adolescent) (1330 aa) | |||
PRDX6 | peroxiredoxin 6; Involved in redox regulation of the cell. Can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. May play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury (224 aa) | |||
SLC25A28 | solute carrier family 25 (mitochondrial iron transporter), member 28; Mitochondrial iron transporter that mediates iron uptake. Probably required for heme synthesis of hemoproteins and Fe-S cluster assembly in non-erythroid cells. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity) (364 aa) | |||
LGSN | lengsin, lens protein with glutamine synthetase domain; May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity (By similarity) (509 aa) | |||
FXN | frataxin; 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 usin [...] (210 aa) | |||
MRS2 | MRS2 magnesium homeostasis factor homolog (S. cerevisiae); Magnesium transporter that may mediate the influx of magnesium into the mitochondrial matrix (443 aa) | |||
PRDX4 | peroxiredoxin 4; Probably involved in redox regulation of the cell. Regulates the activation of NF-kappa-B in the cytosol by a modulation of I-kappa-B-alpha phosphorylation (271 aa) | |||
KLC3 | kinesin light chain 3; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport (504 aa) | |||
SLC25A37 | solute carrier family 25 (mitochondrial iron transporter), member 37; Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity) (338 aa) | |||
ENSG00000256500 | Kinesin light chain 1 (732 aa) |