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| TBC1D17 | TBC1 domain family member 17; Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known (648 aa) | |||
| MON1B | MON1 homolog B, secretory trafficking associated; Belongs to the MON1/SAND family (547 aa) | |||
| OSBP | Oxysterol-binding protein 1; Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum- specifically exchanges sterol with phosphatidylinositol 4-phosphate (PI4P), delivering sterol to the Golgi in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds cholesterol and a range of oxysterols including 25-hydroxycholesterol. Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylates ERK1/2, whereas 25-hydroxycholesterol c [...] (807 aa) | |||
| RAB7A | Ras-related protein Rab-7a; Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient- transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulat [...] (207 aa) | |||
| GABARAPL1 | Gamma-aminobutyric acid receptor-associated protein-like 1; Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor. Involved in formation of autophagosomal vacuoles. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation; Belongs to the ATG8 family (117 aa) | |||
| MAP1LC3B | Microtubule-associated proteins 1A/1B light chain 3B; Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation. Promotes primary ciliogenesis by removing OFD1 from centriolar satellit [...] (125 aa) | |||
| RAB5A | Ras-related protein Rab-5A; 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 sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of filopodia extension. Required for the exosomal release of SDCBP, CD63, PDCD6I [...] (215 aa) | |||
| MON1A | Vacuolar fusion protein MON1 homolog A; Plays an important role in membrane trafficking through the secretory apparatus. Not involved in endocytic trafficking to lysosomes (By similarity). Acts in concert with CCZ1, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (652 aa) | |||
| RAB8A | Ras-related protein Rab-8A; 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 sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes t [...] (207 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) | |||
| PARVA | Alpha-parvin; Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishement of cell polarity, cell adhesion, cell spreading, and dire [...] (412 aa) | |||
| MXRA7 | Matrix-remodeling-associated protein 7; Matrix remodeling associated 7 (204 aa) | |||
| TFRC | Transferrin receptor protein 1; Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for [...] (760 aa) | |||
| RAB5B | Ras-related protein Rab-5B; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family (215 aa) | |||
| ZRANB2 | Zinc finger Ran-binding domain-containing protein 2; Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5’- splice site selection; Zinc fingers RANBP2-type (330 aa) | |||
| STX12 | Syntaxin-12; SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro) (By similarity). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity); Belongs to the syntaxin family (276 aa) | |||
| MAP1LC3A | Microtubule-associated proteins 1A/1B light chain 3A; Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation; Autophagy related (125 aa) | |||
| OPTN | Optineurin; Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation. Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation. In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and [...] (577 aa) | |||
| CDKN2D | Cyclin-dependent kinase 4 inhibitor D; Interacts strongly with CDK4 and CDK6 and inhibits them; Belongs to the CDKN2 cyclin-dependent kinase inhibitor family (166 aa) | |||
| CORO1B | Coronin-1B; Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction (By similarity); Coronins (489 aa) | |||
| UBAC2 | Ubiquitin-associated domain-containing protein 2; Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets; Rhomboid family (344 aa) | |||
| DCTN2 | Dynactin subunit 2; Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development; Dynactin (406 aa) | |||
| CCDC121 | Coiled-coil domain containing 121 (440 aa) | |||
| RAB5C | Ras-related protein Rab-5C; Protein transport. Probably involved in vesicular traffic (By similarity); RAB, member RAS oncogene GTPases (249 aa) | |||
| TBC1D15 | TBC1 domain family member 15; Acts as a GTPase activating protein for RAB7A. Does not act on RAB4, RAB5 or RAB6 (By similarity) (691 aa) | |||
| UBXN8 | UBX domain-containing protein 8; Involved in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the endoplasmic reticulum membrane. May play a role in reproduction; UBX domain containing (270 aa) | |||
