| Gene Symbol |
GNPTAB
|
| Entrez Gene |
79158
|
| Alt Symbol |
GNPTA, ICD
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
| Other Description |
GlcNAc phosphotransferase|N-acetylglucosamine-1-phosphotransferase subunits alpha/beta|UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine|glcNAc-1-phosphotransferase subunits alpha/beta|glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase|stealth protein GNPTAB
|
| Swissprots |
Q9ULL2 Q96N13 Q86TQ2 A2RRQ9 Q6IPW5 Q3T906 Q3ZQK2
|
| Accessions |
EAW97682 EAW97683 EAW97684 Q3T906 AB033034 BAA86522 AI418963 AI479646 AK001821 BAA91926 AK056137 BAB71102 AL359588 CAB94874 AL832172 AM085438 CAJ30014 AY687932 AAV98624 BC002779 AAH02779 BC042615 AAH42615 BC071687 AAH71687 BC094884 AAH94884 BC131787 AAI31788 BP276948 BU754017 CR749871 CAH18711 XM_006719593 XP_006719656 XM_011538731 XP_011537033 NM_024312 NP_077288
|
| Function |
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. {ECO:0000269|PubMed:19955174, ECO:0000269|PubMed:23733939}.
|
| Subcellular Location |
N-acetylglucosamine-1-phosphotransferase subunit alpha: Golgi apparatus membrane; Single-pass type I membrane protein.
|
| Tissue Specificity |
Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:16120602}.
|
| Top Pathways |
Lysosome
|