7yiu
From Proteopedia
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7yiu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7yiu OCA], [https://pdbe.org/7yiu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7yiu RCSB], [https://www.ebi.ac.uk/pdbsum/7yiu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7yiu ProSAT]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7yiu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7yiu OCA], [https://pdbe.org/7yiu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7yiu RCSB], [https://www.ebi.ac.uk/pdbsum/7yiu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7yiu ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| - | == Disease == | ||
| - | [https://www.uniprot.org/uniprot/SPTC2_HUMAN SPTC2_HUMAN] Hereditary sensory and autonomic neuropathy type 1. The disease is caused by variants affecting the gene represented in this entry. SPTLC2 disease mutations cause a shift in the substrate specificity of SPT resulting in the alternative use of L-alanine and L-glycine over its canonical substrate L-serine. This leads to the production of 1-deoxysphingolipids that cannot be correctly metabolized (PubMed:23658386).<ref>PMID:23658386</ref> <ref>PMID:26573920</ref> | ||
| - | == Function == | ||
| - | [https://www.uniprot.org/uniprot/SPTC2_HUMAN SPTC2_HUMAN] Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 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-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate. Plays an important role in de novo sphyngolipid biosynthesis which is crucial for adipogenesis (By similarity).[UniProtKB:P97363]<ref>PMID:19416851</ref> <ref>PMID:19648650</ref> <ref>PMID:20920666</ref> | ||
==See Also== | ==See Also== | ||
*[[Serine palmitoyltransferase 3D structures|Serine palmitoyltransferase 3D structures]] | *[[Serine palmitoyltransferase 3D structures|Serine palmitoyltransferase 3D structures]] | ||
| - | == References == | ||
| - | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
Current revision
Cryo-EM structure of the C6-ceramide-bound SPT-ORMDL3 complex
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Categories: Homo sapiens | Large Structures | Gong X | Liu P | Xie T
