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Literature summary for 2.7.7.40 extracted from

  • Praissman, J.L.; Willer, T.; Sheikh, M.O.; Toi, A.; Chitayat, D.; Lin, Y.Y.; Lee, H.; Stalnaker, S.H.; Wang, S.; Prabhakar, P.K.; Nelson, S.F.; Stemple, D.L.; Moore, S.A.; Moremen, K.W.; Campbell, K.P.; Wells, L.
    The functional O-mannose glycan on alpha-dystroglycan contains a phospho-ribitol primed for matriglycan addition (2016), eLife, 5, e14473.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
recombinant expression of His-tagged enzyme in HEK-293F cells Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
cytosol
-
 Homo sapiens 5829
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
CTP + D-ribitol 5-phosphate Homo sapiens
-
 diphosphate + CDP-ribitol
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens A4D126
-
-

Purification (Commentary)

Purification (Comment) Organism
recombinant His-tagged enzyme from HEK-293F cells Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
CTP + D-ribitol 5-phosphate
-
 Homo sapiens diphosphate + CDP-ribitol
-
 ?
additional information the enzyme is capable of generating CDP-ribitol or CDP-ribose using CTP and ribitol-5-phosphate or ribose-5-phosphate, respectively, but is not able to generate the sugar (alcohol) nucleotides with ribitol or ribose Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
CDP-ribitol (ribose) pyrophosphorylase
-
 Homo sapiens
IspD
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction defects in DPM1/2/3 and ISPD are considered tertiary dystroglycanopathies since they synthesize the sugar donors Dol-P-Man (POMT1/2) and CDP-ribitol (presumably Fukutin and/or FKRP) for subsequent glycosyltransferases Homo sapiens
metabolism ISPD, similar to the DPM1/2/3 enzyme complex that generates dolichol-phosphomannose for initial mannosylation, generates CDP-ribitol for ribosylation of the phosphotrisaccharide. Both of these processes are involved in the generation of donors for the enzymes involved in functional glycosylation of alpha-dystroglycan and as such congenital muscular dystrophy (CMD) resulting from these enzymes can then be referred to as tertiary dystroglycanopathies Homo sapiens
physiological function ISPD is a CDP-ribitol (ribose) diphosphorylase that generates the reduced sugar nucleotide for the insertion of ribitol in a phosphodiester linkage to the glycoprotein, the enzyme is employed for the synthesis of the required sugar (alcohol) nucleotide needed for ribitol insertion into the M3 glycan Homo sapiens