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| UHRF1BP1 | UHRF1-binding protein 1; May act as a negative regulator of cell growth (1440 aa) | |||
| VPS13C | Vacuolar protein sorting-associated protein 13C; Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential. Involved in the regulation of PINK1/PRKN-mediated mitophagy in response to mitochondrial depolarization (3753 aa) | |||
| SCN3A | Sodium channel protein type 3 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; Sodium voltage-gated channel alpha subunits (2000 aa) | |||
| NCOA5 | Nuclear receptor coactivator 5; Nuclear receptor coregulator that can have both coactivator and corepressor functions. Interacts with nuclear receptors for steroids (ESR1 and ESR2) independently of the steroid binding domain (AF-2) of the ESR receptors, and with the orphan nuclear receptor NR1D2. Involved in the coactivation of nuclear steroid receptors (ER) as well as the corepression of MYC in response to 17-beta-estradiol (E2) (579 aa) | |||
| TRAPPC10 | Trafficking protein particle complex subunit 10; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TMEM1 family (1259 aa) | |||
| 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 [...] (2009 aa) | |||
| GCC2 | GRIP and coiled-coil domain-containing protein 2; Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2 (1684 aa) | |||
| COG4 | Conserved oligomeric Golgi complex subunit 4; Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1; Belongs to the COG4 family (789 aa) | |||
| GCC1 | GRIP and coiled-coil domain-containing protein 1; Probably involved in maintaining Golgi structure (775 aa) | |||
| 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. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily (1980 aa) | |||
| HTT | Huntingtin; May play a role in microtubule-mediated transport or vesicle function; Belongs to the huntingtin family (3142 aa) | |||
| GOLGA4 | Golgin subfamily A member 4; May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1 (2243 aa) | |||
| CHM | Rab proteins geranylgeranyltransferase component A 1; Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative [...] (653 aa) | |||
| CHML | Rab proteins geranylgeranyltransferase component A 2; Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family (656 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) | |||
| CCDC64 | BICD family-like cargo adapter 1; Component of secretory vesicle machinery in developing neurons that acts as a regulator of neurite outgrowth. Regulates the secretory vesicle transport by controlling the accumulation of Rab6-containing secretory vesicles in the pericentrosomal region restricting anterograde secretory transport during the early phase of neuronal differentiation, thereby inhibiting neuritogenesis (By similarity); Belongs to the BICDR family (573 aa) | |||
| MAP2K7 | Dual specificity mitogen-activated protein kinase kinase 7; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylati [...] (435 aa) | |||
| RABGGTA | Geranylgeranyl transferase type-2 subunit alpha; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A; Belongs to the protein prenyltransferase subunit alpha family (567 aa) | |||
| SCN9A | Sodium channel protein type 9 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. It is a tetrodotoxin-sensitive Na(+) channel isoform. Plays a role in pain mechanisms, especially in the development of inflammatory pain; Sodium voltage-gated channel alpha subunits (1977 aa) | |||
| SCN4A | Sodium channel protein type 4 subunit alpha; This protein 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. This sodium channel may be present in both denervated and innervated skeletal muscle; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily (1836 aa) | |||
| SCN5A | Sodium channel protein type 5 subunit alpha; This protein 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. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels; Sodium voltage-gated channe [...] (2016 aa) | |||
| XPNPEP1 | Xaa-Pro aminopeptidase 1; Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro; Aminopeptidases (666 aa) | |||
| RAB30 | Ras-related protein Rab-30; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). Required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins; RAB, member RAS oncog [...] (203 aa) | |||
| TRAPPC4 | Trafficking protein particle complex subunit 4; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Trafficking protein particle complex (219 aa) | |||
| CCDC64B | BICD family-like cargo adapter 2; Coiled-coil domain containing 64B (508 aa) | |||
| F8A1 | Factor VIII intron 22 protein; Not known. Possible housekeeping role (371 aa) | |||
