1n69: Difference between revisions

<table><tr><td colspan='2'>[[1n69]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1N69 OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=1N69 FirstGlance]. <br>

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PEH:DI-STEAROYL-3-SN-PHOSPHATIDYLETHANOLAMINE'>PEH</scene></td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Prosaposin, PSAP ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=1n69 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1n69 OCA], [http://pdbe.org/1n69 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1n69 RCSB], [http://www.ebi.ac.uk/pdbsum/1n69 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1n69 ProSAT]</span></td></tr>

[[http://www.uniprot.org/uniprot/SAP_HUMAN SAP_HUMAN]] Defects in PSAP are the cause of combined saposin deficiency (CSAPD) [MIM:[http://omim.org/entry/611721 611721]]; also known as prosaposin deficiency. CSAPD is due to absence of all saposins, leading to a fatal storage disorder with hepatosplenomegaly and severe neurological involvement.<ref>PMID:1371116</ref> <ref>PMID:11309366</ref>  Defects in PSAP saposin-B region are the cause of leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:[http://omim.org/entry/249900 249900]]. MLD-SAPB is an atypical form of metachromatic leukodystrophy. It is characterized by tissue accumulation of cerebroside-3-sulfate, demyelination, periventricular white matter abnormalities, peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotr regression, seizures, cognitive decline and spastic quadriparesis.  Defects in PSAP saposin-C region are the cause of atypical Gaucher disease (AGD) [MIM:[http://omim.org/entry/610539 610539]]. Affected individuals have marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease, a lysosomal storage disorder.<ref>PMID:2060627</ref> <ref>PMID:17919309</ref>  Defects in PSAP saposin-A region are the cause of atypical Krabbe disease (AKRD) [MIM:[http://omim.org/entry/611722 611722]]. AKRD is a disorder of galactosylceramide metabolism. AKRD features include progressive encephalopathy and abnormal myelination in the cerebral white matter resembling Krabbe disease.<ref>PMID:15773042</ref>  Note=Defects in PSAP saposin-D region are found in a variant of Tay-Sachs disease (GM2-gangliosidosis).  

[[http://www.uniprot.org/uniprot/SAP_HUMAN SAP_HUMAN]] The lysosomal degradation of sphingolipids takes place by the sequential action of specific hydrolases. Some of these enzymes require specific low-molecular mass, non-enzymic proteins: the sphingolipids activator proteins (coproteins).  Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate.  Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases.  Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12).  

     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>

[[Category: Human]]

[[Category: Ahn, V E]]

[[Category: Faull, K F]]

[[Category: Fluharty, A L]]

[[Category: Prive, G G]]

[[Category: Whitelegge, J P]]

[[Category: Lipid binding protein]]