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DISEASES
The following proteins in
Homo sapiens
appear to match your input.
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1) '9606.ENSP00000303540':
SCN1A - Sodium channel protein type 1 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. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammatio [...]
[a.k.a. NM_001165963.3, NM_001353954.2, NM_001353951.2]
2) '9606.ENSP00000291568':
CSTB - Cystatin-B; This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B; Belongs to the cystatin family.
[a.k.a. CH471079, ENST00000291568.6, STFB]
3) '9606.ENSP00000360107':
EFHC1 - EF-hand domain-containing protein 1; Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration. May enhance calcium influx through CACNA1E and stimulate programmed cell death.
[a.k.a. ENST00000638075.1, ENST00000636616, FLJ10466]
4) '9606.ENSP00000393097':
GABRA1 - Gamma-aminobutyric acid receptor subunit alpha-1; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By si [...]
[a.k.a. NM_001127645, GABRA1-219, ENSP00000430895]
5) '9606.ENSP00000410732':
GABRG2 - Gamma-aminobutyric acid receptor subunit gamma-2; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By si [...]
[a.k.a. GBRG2_HUMAN, 6HUJ, ENST00000639554]
6) '9606.ENSP00000490107':
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. Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By similarity). Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.
[a.k.a. ENST00000338365, Sodium channel protein type 2 subunit alpha, SCN2A-221]
7) '9606.ENSP00000396915':
SCN1B - Sodium channel subunit beta-1; Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A.
[a.k.a. 6J8H, 6324, hsa:6324]
8) '9606.PIRC4':
- - Sorry, STRING found no proteins by this name in Homo sapiens - -
9) '9606.ENSP00000346534':
SCN8A - Sodium channel protein type 8 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. Nav1.6/SCN8A subfamily.
[a.k.a. BFIS5, MED, NP_055006.1]
10) '9606.ENSP00000457230':
WWOX - WW domain-containing oxidoreductase; Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm.
[a.k.a. UPI000004C797, EIEE28, ENSP00000384495]