GNPTAB report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0007040Biological processlysosome organization
GO_0033299Biological processsecretion of lysosomal enzymes
GO_0046835Biological processcarbohydrate phosphorylation
GO_0016256Biological processN-glycan processing to lysosome
GO_0000139Cellular componentGolgi membrane
GO_0005794Cellular componentGolgi apparatus
GO_0005509Molecular functioncalcium ion binding
GO_0005515Molecular functionprotein binding
GO_0003976Molecular functionUDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity

IV. Literature review

[source]
Gene nameGNPTAB
Protein nameN-acetylglucosamine-1-phosphate transferase subunits alpha and beta
GNPTAB protein (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta)
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (EC 2.7.8.17) (GlcNAc-1-phosphotransferase subunits alpha/beta) (Stealth protein GNPTAB) (UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta) [Cleaved into: N-acetylglucosamine-1-phosphotransferase subunit alpha; N-acetylglucosamine-1-phosphotransferase subunit beta]
SynonymsGNPTA
KIAA1208
DescriptionFUNCTION: Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. .

AccessionsENST00000392919.4
Q3T906
H0YIE6
H0YIU2
F8VQW2
ENST00000549940.5 [Q3T906-2]
ENST00000549738.5
H0YIK3
ENST00000550718.1
ENST00000299314.12 [Q3T906-1]
ENST00000552681.1
Q9BUA5
ENST00000549165.1