Degradation pathway of sphingolipids, including diseases (WP4153)

Test pathway to include dieases in pathways, in order to deduce biomarkers.
last edited

Authors

DeSl, Andra, Egonw, AdoBioInfo, IreneHemel, Khanspers, Finterly, and Fehrhart

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organism

Homo sapiens

Communities

Inborn Errors of Metabolism (IEM) Pathways Rare Diseases

Annotations

Pathway Ontology: altered sphingolipid metabolic pathway sphingolipid metabolic pathway glycosphingolipid metabolic pathway sphingolipid degradation pathway lacto-series glycosphingolipid metabolic pathway sphingolipid biosynthetic pathway

Disease Ontology: Tay-Sachs disease Niemann-Pick disease Niemann-Pick disease type A gangliosidosis Fabry disease GM2 gangliosidosis Krabbe disease disease GM2 gangliosidosis, AB variant metachromatic leukodystrophy Niemann-Pick disease type B Sandhoff disease GM1 gangliosidosis Farber lipogranulomatosis Gaucher's disease

Participants

Label Type Compact Identifier
HEXB Protein uniprot:P07686
digalactosylceramide Metabolite chebi:28811
GM1-beta-galactosidase (GLB) Protein eccode:3.2.1.23
Sap-B Protein interpro:IPR008139
digalactosylceramide beta Metabolite chebi:134507
HEXA Protein uniprot:P06865
Globoside Metabolite chebi:61360
sialidase 2 Protein uniprot:Q9Y3R4
GLB1 GeneProduct ensembl:ENSG00000170266
acrylsulfatase A Protein ensembl:ENSG00000100299
sialidase 1 Protein uniprot:Q99519
Globoside example 1 Metabolite chebi:88167
sphingomyelinase Protein Enzyme Nomenclature
sialidase Protein InterPro
globotriaosylceramide Metabolite PubChem-compound
glucosylceramide-beta-glucosidase Protein None
GM2A Protein Entrez Gene
beta-hexosaminidase A, B Protein Enzyme Nomenclature
Globoside example 2 Metabolite ChEBI
alpha-galactosidase A Protein ncbigene:2717
sialidase 3 Protein uniprot:Q9UQ49
alpha-galactosidase A Protein ncbigene:2717
acid ceramidase Protein eccode:3.5.1.23
digalactosylceramide alpha Metabolite chebi:134506
GalCer-beta-galactosidase Protein eccode:3.2.1.46
sialidase 4 Protein uniprot:Q8WWR8
HEXA Protein ensembl:ENSG00000213614
GA2 Metabolite chebi:27731
GM3 Metabolite chebi:15681
Ceramide Metabolite chebi:17761
Sphingosine Metabolite wikidata:Q46298
galactosyl-ceramide Metabolite wikidata:Q2756638
Sphingomyelin Metabolite wikidata:Q423143
glucosylceramide Metabolite wikidata:Q35662896
Sulfatide Metabolite wikidata:Q408584
lactosylceramide Metabolite wikidata:Q3215908
GM2 Metabolite chebi:51013
GM1a Metabolite chebi:18216
GA1 Metabolite chebi:27938
GM2-activator Protein ncbigene:2760
Sap-B Protein interpro:IPR008139
GM1-beta-galactosidease (GLB) Protein eccode:3.2.1.23
GM2-activator Protein ncbigene:2760
Sap-B Protein interpro:IPR008139
Sap-B Protein interpro:IPR008139
Sap-C Protein None
Sap-C Protein None
Sap-C Protein None
glucosylceramide-beta-glucosidase Protein None
Sap-A Protein interpro:IPR003119
Sap-B Protein interpro:IPR008139
Sap-B Protein interpro:IPR008139
GLB1 GeneProduct ensembl:ENSG00000170266
HEXA Protein ensembl:ENSG00000213614
HEXB Protein uniprot:P07686
beta-hexosaminidase A, B Protein eccode:3.2.1.52
HEXA Protein ensembl:ENSG00000213614
GM1-beta-galactosidase (GLB) Protein eccode:3.2.1.23
GLB1 GeneProduct ensembl:ENSG00000170266

References

  1. Novak A, Callahan JW, Lowden JA. Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate. Biochim Biophys Acta. 1994 Mar 2;1199(2):215–23. PubMed Europe PMC Scholia
  2. Hou Y, Tse R, Mahuran DJ. Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A. Biochemistry. 1996 Apr 2;35(13):3963–9. PubMed Europe PMC Scholia
  3. Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, et al. A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family. J Biol Chem. 1998 May 22;273(21):12770–8. PubMed Europe PMC Scholia
  4. Hou Y, McInnes B, Hinek A, Karpati G, Mahuran D. A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. J Biol Chem. 1998 Aug 14;273(33):21386–92. PubMed Europe PMC Scholia
  5. PubMed Europe PMC Scholia