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Defective B3GALTL causes PpS

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5083635

PubChem

R-HSA-5083635

Description

Human beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resultant glc-beta-1,3-fuc disaccharide modification on thrombospondin type 1 repeat (TSR1) domain-containing proteins is thought to assist in the secretion of many of these proteins from the ER lumen, and mediate an ER quality-control mechanism of folded TSRs (Vasudevan et al. 2015). Defects in B3GALTL can cause Peters plus syndrome (PpS; MIM:261540), an autosomal recessive disorder characterised by anterior eye chamber defects, short stature, delay in growth and mental developmental and cleft lip and/or palate (Heinonen & Maki 2009).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying entries **1 - 10** of 38 in total

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UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
A2VEC9	SCO-spondin	KIAA2036 SSPO SSPOP	view
O15072	A disintegrin and metalloproteinase with thrombospondin motifs 3	ADAMTS3 KIAA0366	view
O75173	A disintegrin and metalloproteinase with thrombospondin motifs 4	ADAMTS4 KIAA0688 UNQ769/PRO1563	view
O95450	A disintegrin and metalloproteinase with thrombospondin motifs 2	ADAMTS2 PCINP PCPNI	view
P07996	Thrombospondin-1	THBS1 TSP TSP1	view
P27918	Properdin	CFP PFC hCG_29138	view
P35442	Thrombospondin-2	THBS2 TSP2	view
P58397	A disintegrin and metalloproteinase with thrombospondin motifs 12	ADAMTS12 UNQ1918/PRO4389	view
P59510	A disintegrin and metalloproteinase with thrombospondin motifs 20	ADAMTS20	view
P82987	ADAMTS-like protein 3	ADAMTSL3 KIAA1233	view

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