ataxia telangiectasia mutated; Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates ’Ser-139’ of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and [...]

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 [...]

ceramide synthase 2; Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis

ELOVL fatty acid elongase 7; Condensing enzyme that catalyzes the synthesis of saturated and polyunsaturated very long chain fatty acids. Highest activity toward C18 acyl-CoAs, especially C18-3(n-3) acyl-CoAs and C18-3(n-6)-CoAs. Also active toward C20-4-, C18-0-, C18-1-, C18-2- and C16-0-CoAs, and weakly toward C20-0-CoA. Little or no activity toward C22-0-, C24-0-, or C26-0-CoAs

ceramide synthase 2; Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis

serine palmitoyltransferase, long chain base subunit 1; Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isoz [...]

dystrobrevin binding protein 1; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 fun [...]

ELOVL fatty acid elongase 7; Condensing enzyme that catalyzes the synthesis of saturated and polyunsaturated very long chain fatty acids. Highest activity toward C18 acyl-CoAs, especially C18-3(n-3) acyl-CoAs and C18-3(n-6)-CoAs. Also active toward C20-4-, C18-0-, C18-1-, C18-2- and C16-0-CoAs, and weakly toward C20-0-CoA. Little or no activity toward C22-0-, C24-0-, or C26-0-CoAs

ELOVL fatty acid elongase 7; Condensing enzyme that catalyzes the synthesis of saturated and polyunsaturated very long chain fatty acids. Highest activity toward C18 acyl-CoAs, especially C18-3(n-3) acyl-CoAs and C18-3(n-6)-CoAs. Also active toward C20-4-, C18-0-, C18-1-, C18-2- and C16-0-CoAs, and weakly toward C20-0-CoA. Little or no activity toward C22-0-, C24-0-, or C26-0-CoAs

ceramide synthase 2; Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis

ELOVL fatty acid elongase 7; Condensing enzyme that catalyzes the synthesis of saturated and polyunsaturated very long chain fatty acids. Highest activity toward C18 acyl-CoAs, especially C18-3(n-3) acyl-CoAs and C18-3(n-6)-CoAs. Also active toward C20-4-, C18-0-, C18-1-, C18-2- and C16-0-CoAs, and weakly toward C20-0-CoA. Little or no activity toward C22-0-, C24-0-, or C26-0-CoAs

dystrobrevin binding protein 1; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 fun [...]

ELOVL fatty acid elongase 7; Condensing enzyme that catalyzes the synthesis of saturated and polyunsaturated very long chain fatty acids. Highest activity toward C18 acyl-CoAs, especially C18-3(n-3) acyl-CoAs and C18-3(n-6)-CoAs. Also active toward C20-4-, C18-0-, C18-1-, C18-2- and C16-0-CoAs, and weakly toward C20-0-CoA. Little or no activity toward C22-0-, C24-0-, or C26-0-CoAs

sigma non-opioid intracellular receptor 1

ELOVL fatty acid elongase 7; Condensing enzyme that catalyzes the synthesis of saturated and polyunsaturated very long chain fatty acids. Highest activity toward C18 acyl-CoAs, especially C18-3(n-3) acyl-CoAs and C18-3(n-6)-CoAs. Also active toward C20-4-, C18-0-, C18-1-, C18-2- and C16-0-CoAs, and weakly toward C20-0-CoA. Little or no activity toward C22-0-, C24-0-, or C26-0-CoAs

serine palmitoyltransferase, long chain base subunit 1; Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isoz [...]

NSFL1 (p97) cofactor (p47)

ubiquitin fusion degradation 1 like (yeast); Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures

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 [...]

ataxia telangiectasia mutated; Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates ’Ser-139’ of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and [...]

sigma non-opioid intracellular receptor 1

ELOVL fatty acid elongase 7; Condensing enzyme that catalyzes the synthesis of saturated and polyunsaturated very long chain fatty acids. Highest activity toward C18 acyl-CoAs, especially C18-3(n-3) acyl-CoAs and C18-3(n-6)-CoAs. Also active toward C20-4-, C18-0-, C18-1-, C18-2- and C16-0-CoAs, and weakly toward C20-0-CoA. Little or no activity toward C22-0-, C24-0-, or C26-0-CoAs

serine palmitoyltransferase, long chain base subunit 1; Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isoz [...]

ceramide synthase 2; Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis

serine palmitoyltransferase, long chain base subunit 1; Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isoz [...]

ELOVL fatty acid elongase 7; Condensing enzyme that catalyzes the synthesis of saturated and polyunsaturated very long chain fatty acids. Highest activity toward C18 acyl-CoAs, especially C18-3(n-3) acyl-CoAs and C18-3(n-6)-CoAs. Also active toward C20-4-, C18-0-, C18-1-, C18-2- and C16-0-CoAs, and weakly toward C20-0-CoA. Little or no activity toward C22-0-, C24-0-, or C26-0-CoAs

UBX domain protein 2A

ubiquitin fusion degradation 1 like (yeast); Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures

UBX domain protein 2B; Adapter protein required for Golgi and endoplasmic reticulum biogenesis. Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis. The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L. VCPIP1 is also required, but not its deubiquitinating activity

ubiquitin fusion degradation 1 like (yeast); Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures

ubiquitin fusion degradation 1 like (yeast); Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures

NSFL1 (p97) cofactor (p47)

ubiquitin fusion degradation 1 like (yeast); Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures

UBX domain protein 2A

ubiquitin fusion degradation 1 like (yeast); Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures

UBX domain protein 2B; Adapter protein required for Golgi and endoplasmic reticulum biogenesis. Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis. The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L. VCPIP1 is also required, but not its deubiquitinating activity