SMPD3 Neutraali sfingomyelinaasi 3, GALC ja munuaistuumori - Ceramidien onkosuppression muutos

 https://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD3&keywords=SMPD3

GALC säätelyhäiriössä  ilmeinen locus minor resistentiae : munuainen. 

Munuaistuumorissa    osallisuutta 

GALC säätelyllä ja SMPD3  säätymisellä https://pmc.ncbi.nlm.nih.gov/articles/PMC8946824/figure/F1/

SAPLIP saposiinien perheestä. EI-ENTSYMAATTISIA PIENIÄ MOLEKYYLEJÄ.Vahingollisen Psykosiinivälituotteen akkumuloitumisen estäjIä

 https://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP&keywords=Psychosine

https://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP&keywords=PSAP

Psychosiini eli galaktoosisfingosiini on  välituote, jonka pitoisuus on hyvin matala normaalisti ja siitä tulee vapaata  D-galaktoosia ja  sfingosiinia. ,jotka ovat oligodendrosyyteille neurotoksisia. 

Saponiinien joukko siivoaa näitä ja nopeuttaa  myeliiniin asettuvien  glykolipidien    degradaatiota.. aivojen lipidien turnover prosessissa.  SAPLIP family:

PSAP 10q21.1

Aliases for PSAP Gene

• GeneCards Symbol: PSAP 2 
• Prosaposin 2 3 4 5
• GLBA 3 4 5
• SAP1 3 4 5
• Sphingolipid Activator Protein-1 2 3
• Sphingolipid Activator Protein-2 2 3
• Proactivator Polypeptide 3 4
• Precursor Of Saposins 2 3

• Saposin-A 2 3
• Saposin-B 2 3
• Saposin-C 2 3
• Saposin-D 2 3
• SAP2 3 5
• Variant Gaucher Disease And Variant Metachromatic Leukodystrophy 2
• PARK24 3

• UniProtKB/Swiss-Prot Summary for PSAP Gene

  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. ( SAP_HUMAN,P07602 )

  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. ( SAP_HUMAN,P07602 )

  Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12). ( SAP_HUMAN,P07602 )

  [Prosaposin]: Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling. ( SAP_HUMAN,P07602 )

  Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases. ( SAP_HUMAN,P07602 )

Post-translational modifications for PSAP Gene

• The lysosomal precursor is proteolytically processed to 4 small peptides, which are similar to each other and are sphingolipid hydrolase activator proteins. ( P07602-SAP_HUMAN )
• N-linked glycans show a high degree of microheterogeneity. ( P07602-SAP_HUMAN )
• The one residue extended Saposin-B-Val is only found in 5% of the chains. ( P07602-SAP_HUMAN )
• Glycosylation at Asn80, Asn101, Asn136, Thr214, Asn215, Ser216, Thr217, Asn332, Thr397, Thr401, and Asn426 ( NX_P07602 [NX_P07602-1] )
• Modification sites at PhosphoSitePlus ( P07602 )
• Glycosylation from GlyConnect 
  • SAP_HUMAN (1645)
• Glycosylation from GlyGen (P07602) 23 sites, 291 N-linked glycans (7 sites), 1 N-linked;o-linked glycan (2 sites), 4 O-linked glycans (16 sites)

GALC, Galactosylceramidase ,j onka. mutaatio aiheuttaa Krabben ja Fabryn tautia

https://www.genecards.org/Search/Keyword?queryString=GALC

• GeneCards Symbol: GALC 2 
• Galactosylceramidase 2 3 4 5
• Galactocerebroside Beta-Galactosidase 3 4
• Galactosylceramide Beta-Galactosidase 3 4
• Galactocerebrosidase 3 4
• EC 3.2.1.46 4 47

• GALCERase 3 4
• Testis Tissue Sperm-Binding Protein Li 88E 3
• Testis Tissue Sperm-Binding Protein Li 89A 3
• Galactosylceramidase (Krabbe Disease) 2
• Galactosylceraminidase 3
• Krabbe Disease 2

Family

Domains

Gene Families for GALC Gene

HGNC:

• Glycoside hydrolase family

The Human Protein Atlas (HPA):

• Disease related genes
 
• Enzymes
 
• Human disease related genes
 
• Metabolic proteins
 
• Plasma proteins
 
• Potential drug targets
 
• Predicted intracellular proteins
 
• Predicted membrane proteins

Protein Domains for GALC Gene

InterPro:

• Glycoside_hydrolase_SF 
 
• Aldolase_TIM 
 
• GH59_C 
 
• GH59_cat 
 
• Glyco_hydro_59 
 
• Glyco_hydro_59_dom 
• See less «

Blocks:

• Glycosyl hydrolase family 59 signature

Suggested Antigen Peptide Sequences for GALC Gene

GenScript: Design optimal peptide antigens:

• Galactosylceramide beta-galactosidase (GALC_HUMAN)
 
• Galactocerebrosidase (O95953_HUMAN)
  
  
  
  details:
  GLYCO_HYDRO-59-DOMAIN
  
  

  description

  This entry represents the central domain of the glycosyl hydrolase family 59 members.

  ---

  Glycoside hydrolase family 59 

  GH59

   comprises enzymes with only one known activity; galactocerebrosidase (

  3.2.1.46

  ).

  
  

  Globoid cell leukodystrophy (Krabbe disease) is a severe, autosomal recessive disorder that results from deficiency of galactocerebrosidase (GALC) activity 

  [3, 1, 2]

  . GALC is responsible for the lysosomal catabolism of certain galactolipids, including galactosylceramide and psychosine 

  [3]

  .