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| SLC22A4 | Solute carrier family 22 member 4; Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET); Deafness associated genes (551 aa) | |||
| MAPK1 | Mitogen-activated protein kinase 1; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...] (360 aa) | |||
| ABCG2 | ATP-binding cassette sub-family G member 2; High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs a [...] (655 aa) | |||
| SLC22A5 | Solute carrier family 22 member 5; Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3; Solute carriers (557 aa) | |||
| HTRA2 | Serine protease HTRA2, mitochondrial; Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive; Belongs to the peptidase S1C family (458 aa) | |||
| KPNA3 | Importin subunit alpha-4; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta ar [...] (521 aa) | |||
| MAPK3 | Mitogen-activated protein kinase 3; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...] (379 aa) | |||
| ATP2B3 | Plasma membrane calcium-transporting ATPase 3; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell; ATPases Ca2+ transporting (1220 aa) | |||
| GID4 | Glucose-induced degradation protein 4 homolog; GID complex subunit 4 homolog; Belongs to the GID4/VID24 family (300 aa) | |||
| ABCG8 | ATP-binding cassette sub-family G member 8; ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG5 has ATPase activity; Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily (673 aa) | |||
| SLC2A12 | Solute carrier family 2, facilitated glucose transporter member 12; Facilitative glucose transporter; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily (617 aa) | |||
| SLC2A13 | Proton myo-inositol cotransporter; H(+)-myo-inositol cotransporter. Can also transport related stereoisomers; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family (648 aa) | |||
| SLC5A11 | Sodium/myo-inositol cotransporter 2; Involved in the sodium-dependent cotransport of myo- inositol (MI) with a Na(+)-MI stoichiometry of 2-1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D- xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney; Belongs to the sodium-solute symporter (SSF) (TC [...] (675 aa) | |||
| ABCA3 | ATP-binding cassette sub-family A member 3; Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol; Belongs to the ABC transporter superfamily. ABCA family (1704 aa) | |||
| ABCA9 | ATP-binding cassette sub-family A member 9; May play a role in monocyte differentiation and lipid homeostasis; Belongs to the ABC transporter superfamily. ABCA family (1624 aa) | |||
| ABCA2 | ATP-binding cassette sub-family A member 2; Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development; Belongs to the ABC transporter superfamily. ABCA family (2436 aa) | |||
| LINGO1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1; Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors. Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination. Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity); I-set domain containing (620 aa) | |||
| SLC2A10 | Solute carrier family 2, facilitated glucose transporter member 10; Facilitative glucose transporter; Solute carriers (541 aa) | |||
| ATP2B2 | Plasma membrane calcium-transporting ATPase 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell; ATPases Ca2+ transporting (1243 aa) | |||
| SLC2A6 | Solute carrier family 2, facilitated glucose transporter member 6; Facilitative glucose transporter; binds cytochalasin B with low affinity; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily (507 aa) | |||
| SLC2A8 | Solute carrier family 2, facilitated glucose transporter member 8; Insulin-regulated facilitative glucose transporter. Binds cytochalasin B in a glucose-inhibitable manner. Seems to be a dual-specific sugar transporter as it is inhibitable by fructose (By similarity); Solute carriers (477 aa) | |||
| SCN2A | Sodium channel protein type 2 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily (2005 aa) | |||
| GNAT3 | Guanine nucleotide-binding protein G(t) subunit alpha-3; Guanine nucleotide-binding protein (G protein) alpha subunit playing a prominent role in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction. Transduction by this alpha subunit involves coupling of specific cell-surface receptors with a cGMP-phosphodiesterase; Activation of phosphodiesterase lowers intracellular levels of cAMP and cGMP which may open a cyclic nucleotide-suppressible cation channel leading to influx of calcium, ultima [...] (354 aa) | |||
| CACNA1I | Voltage-dependent T-type calcium channel subunit alpha-1I; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite [...] (2223 aa) | |||
| ATP1A3 | Sodium/potassium-transporting ATPase subunit alpha-3; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily (1026 aa) | |||
| ABCA8 | ATP-binding cassette sub-family A member 8; ATP-dependent lipophilic drug transporter; ATP binding cassette subfamily A (1621 aa) | |||
