Reactome | POMK 6-phosphorylates mannose in GalNAc-GlcNAc-Man-DAG1

POMK 6-phosphorylates mannose in GalNAc-GlcNAc-Man-DAG1

Stable Identifier

R-HSA-8931653

Type

Reaction [transition]

Species

Homo sapiens

Compartment

endoplasmic reticulum lumen, endoplasmic reticulum membrane

ReviewStatus

5/5

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POMK 6-phosphorylates mannose in GalNAc-GlcNAc-Man-DAG1

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Protein O-mannose kinase (POMK, SGK196) phosphorylates position 6 of the mannosyl residue in modified alpha-dystroglycan GalNAc-GlcNAc-Man-DAG1, completing the core M3 trisaccharide linker on DAG1 (Yoshida-Moriguchi et al. 2013). Alpha-dystroglycan is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Defects in POMK can cause muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12; MIM:615249), a congenital muscular dystrophy that disrupts normal muscle development leading to locomotor dysfuction (Di Costanzo et al. 2014).

Literature References

PubMed ID	Title	Journal	Year
23929950	SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function Yoshida-Moriguchi, T, Willer, T, Anderson, ME, Venzke, D, Whyte, T, Muntoni, F, Lee, H, Nelson, SF, Yu, L, Campbell, KP	Science	2013
24925318	POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations Di Costanzo, S, Balasubramanian, A, Pond, HL, Rozkalne, A, Pantaleoni, C, Saredi, S, Gupta, VA, Sunu, CM, Yu, TW, Kang, PB, Salih, MA, Mora, M, Gussoni, E, Walsh, CA, Manzini, MC	Hum. Mol. Genet.	2014