Degradation pathway of sphingolipids, including diseases (Homo sapiens)

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1GM1-gangliosidosisdigalactosylceramideglucosylceramid-beta-glucosidaseGM2-activatorGlobosideGalCer-beta-galactosidaseSap-Bglobotriaosylceramidealpha-galactosidase Aacrylsulfatase Abeta-hexosaminidase Aacid ceramidasesalidasesphingomyelinasealpha-galactosidase AGM1-beta-galactosideaseGA2GM3CeramideSphingosinegalactosyl-ceramideSphingomyelinglucosylceramideSulfatidelactosylceramideGM2GM1aGA1GM2-activatorSap-BGM1-beta-galactosideasebeta-hexosaminidase A,BGM2-activatorSap-Bbeta-hexosaminidase A,BGM1-beta-galactosideaseSap-BSap-CSap-CSap-Cglucosylceramid-beta-glucosidaseSap-ASap-BSap-BTay-SachsSandhoffGM2-ganglipsidosis AB-variantSandhoffSialidosisGM1-gangliosidosisSandhoffFabryFabryKrabbeMetachromatic leukodystrophyFarberGaucherNiemann-Pick ANiemann-Pick B


Description

The metabolism of SphingoLipids (SLs) in the ER and Golgi apparatus. Sphingolipids, or glycosyl-ceramides, are a class of lipids containing a backbone of sphingoid bases, a set of aliphatic amino alcohols that includes sphingosine. These compounds play important roles in signal transmission and cell recognition.

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Ontology Terms

 

Bibliography

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  1. Rafael J Tamargo, Arash Velayati, Ehud Goldin, Ellen Sidransky; ''The role of saposin C in Gaucher disease''; Mol Genet Metab., 2012 PubMed Europe PMC Scholia
  2. Novak A, Callahan JW, Lowden JA; ''Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate.''; Biochim Biophys Acta, 1994 PubMed Europe PMC Scholia
  3. Knapp S, Vocadlo D, Gao Z, Kirk B, Lou J, Withers SG; ''NAG-thiazoline, an N-acetylbeta-hexosaminidase inhibitor that implicates acetamido participation''; J. Am. Chem. Soc.; doi:10.1021/ja960826u, 1996 DOI 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 PubMed Europe PMC Scholia
  5. Blau, Nenad, Duran, Marinus, Gibson, K. Michael, Dionisi-Vici, Carlo; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer, DOI: 10.1007/978-3-642-40337-8, 2014 (ed.1)
  6. Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP, Clausen H; ''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 PubMed Europe PMC Scholia
  7. Hou Y, Tse R, Mahuran DJ; ''Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A.''; Biochemistry, 1996 PubMed Europe PMC Scholia
  8. Thomas Kolter, Konrad Sandhoff; ''Sphingolipid metabolism diseases''; Biochim Biophys Acta . , 2006 PubMed Europe PMC Scholia
  9. Thomas Kolter, Richard L Proia, Konrad Sandhoff; ''Combinatorial ganglioside biosynthesis''; J Biol Chem . , 2002 PubMed Europe PMC Scholia
  10. Heike Schulze, Thomas Kolter, Konrad Sandhoff; ''Principles of lysosomal membrane degradation: Cellular topology and biochemistry of lysosomal lipid degradation''; Biochim Biophys Acta ., 2009 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
129325view14:03, 26 March 2024MkutmonOntology Term : 'disease pathway' added !
128224view13:17, 29 January 2024EweitzStandardize case
128223view13:09, 29 January 2024EweitzSoften disease color
124950view07:58, 7 January 2023EgonwFixed the OMIM link patterns
123688view11:30, 10 August 2022DeSlAdded last two missing protein annotations
123672view06:20, 9 August 2022EgonwRemoved the RHEA prefix
123669view15:03, 8 August 2022DeSlAdded disorders which were not connected to main pathway
123654view12:57, 8 August 2022DeSlAdded legend
123653view10:26, 8 August 2022DeSlFoudna nother ChEBI ID for digalactosylceramide
123652view10:24, 8 August 2022DeSlAnnotated galactosylceramide with new ID (since chebi was 'preliminary entry'.
123651view10:22, 8 August 2022DeSlUpdating GM2 and GM3 annotation to match up with Rhea0ID
123650view10:17, 8 August 2022DeSlAdded details on SapB and SapC, used similar annotation from UniProt (both encoded by same gene, no alternative annotation possible now).
123649view09:56, 8 August 2022DeSlModified description
123647view09:54, 8 August 2022DeSlAdded 3 principal refs for PW according to ed. 5 book chapter 60
123646view09:50, 8 August 2022DeSlConverted interactions to labels to grpahical interactions, added synonyms to metabolites from ed. 5 of book.
123645view09:38, 8 August 2022DeSlConverted interactions with disorders to graphical lines.
120394view08:51, 30 November 2021Fehrhartsmall graphical change
119291view11:05, 23 June 2021FinterlyAdded ISBN for book citation
115614view16:12, 1 March 2021DeSlOntology Term : 'Niemann-Pick disease type B' added !
115613view16:12, 1 March 2021DeSlOntology Term : 'Niemann-Pick disease type A' added !
111771view12:20, 7 September 2020DeSlFixed GalCer EC number ID (without space)
106375view00:57, 23 August 2019KhanspersModified description
105567view06:25, 9 August 2019KhanspersModified description
104405view15:06, 23 May 2019DeSlUpdated GM2A comment to remove weird signs.
104401view14:47, 23 May 2019DeSlUpdated comments for metabolites with weird signs.
104398view14:27, 23 May 2019DeSlUpdated ID of HEXB
104028view17:41, 25 April 2019IreneHemelModified description
104011view15:17, 25 April 2019DeSlAdded Rheas and lit refs
101823view15:44, 11 November 2018EgonwReplaced "Ensembl Human" with just "Ensembl", fixing links out.
98955view14:39, 17 October 2018DeSlConnected last unconnected interaction.
98950view12:21, 17 October 2018DeSlModified description
98249view09:31, 15 August 2018DeSlChanged layout of disease text-boxes, connected unconnected line.
98137view12:10, 25 July 2018DeSlChanged part of wrong symbols in globoside example 2
98136view12:01, 25 July 2018DeSlchanged weird symbols (again)
98135view11:12, 25 July 2018DeSlChanged two IDs from Ensembl Human to Ensembl, changed disease nodes to labels with linkouts to OMIM.
98134view10:03, 25 July 2018DeSlchanged weird symbols
98133view10:03, 25 July 2018DeSlchanged weird symbols
98132view09:55, 25 July 2018DeSlchanged weird symbols
98131view09:52, 25 July 2018DeSlReverted to version '08:44, 23 May 2018' by DeSl
97546view14:41, 24 May 2018AdoBioInfoNew mapping ID for lactase.
97518view13:50, 24 May 2018AdoBioInfoReplaced acid ceramidase ID for more Mappingz.
97516view13:46, 24 May 2018AdoBioInfoSike, another ID replaced.
97512view13:41, 24 May 2018AdoBioInfoReplaced database ID for more mapping.
97466view08:44, 23 May 2018DeSlChanged Swissprot IDs to TrEMBL
96376view06:39, 11 March 2018EgonwReplaced secondary ChEBI identifiers with primary identifiers.
94607view12:08, 30 September 2017EgonwModified title
94469view06:53, 12 September 2017Andrasome minor layout updates
94461view20:52, 9 September 2017DeSlChanged location of group GLB, GLB1 and Sap-B.
94460view20:51, 9 September 2017DeSlAdded annotaion for sialidase proteins; changed HEXA and GMSA group to complex (since GM2A is cofactor for HEXA).
94459view20:42, 9 September 2017DeSlAnnotated several protein nodes.

External references

DataNodes

View all...
NameTypeDatabase referenceComment
CeramideMetaboliteCHEBI:7242 (ChEBI)
Fabry301500DISEASE (datasource is OMIM)
Farber228000DISEASE (datasource is OMIM)
GA1MetaboliteCHEBI:27938 (ChEBI) ganglioside GA1
GA2MetaboliteCHEBI:5208 (ChEBI) ganglioside GA2
GM1-beta-galactosideaseProtein
GM1-gangliosidosis230500 (Other) DISEASE (datasource is OMIM)
GM1aMetaboliteCHEBI:4149 (ChEBI) ganglioside GM1a
GM2-activatorProtein
GM2-ganglipsidosis AB-variant272750DISEASE (datasource is OMIM)
GM2MetaboliteCHEBI:7115 (ChEBI) ganglioside GM2
GM3MetaboliteCHEBI:5227 (ChEBI) ganglioside GM3
GalCer-beta-galactosidaseProtein
Gaucher230800DISEASE (datasource is OMIM)
GlobosideMetabolite
Krabbe245200DISEASE (datasource is OMIM)
Metachromatic leukodystrophyDISEASE (datasource is OMIM)
Niemann-Pick A257200DISEASE (datasource is OMIM)
Niemann-Pick B607616DISEASE (datasource is OMIM)
Sandhoff268800 (Other) DISEASE (datasource is OMIM)
Sap-AProtein
Sap-BProtein
Sap-CProtein
SialidosisDISEASE (datasource is OMIM)
SphingomyelinMetaboliteQ423143 (Wikidata)
SphingosineMetaboliteQ46298 (Wikidata)
SulfatideMetaboliteQ408584 (Wikidata)
Tay-Sachs272800 (Other) DISEASE (datasource is OMIM)
acid ceramidaseProtein
acrylsulfatase AProtein
alpha-galactosidase AProtein
beta-hexosaminidase AProtein
beta-hexosaminidase A,BProtein
digalactosylceramideMetabolite
galactosyl-ceramideMetaboliteQ2756638 (Wikidata) Galactocerebroside
globotriaosylceramideMetabolite
glucosylceramid-beta-glucosidaseProtein
glucosylceramideMetaboliteQ35662896 (Wikidata)
lactosylceramideMetaboliteQ3215908 (Wikidata)
salidaseProtein
sphingomyelinaseProtein

Annotated Interactions

No annotated interactions

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