| Gene Information | |
|---|---|
| Gene Name | GNPTAB |
| Organism | Homo sapiens (Human) |
| Gene Length | 1256 |
| Protein Names | 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] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1714 ( ENSG00000111670 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q3T906 |
| Gene Card | GNPTAB |
| Uniprot ID | Q3T906 |
| Pfam | PF06464; PF18440; PF00066; PF17101; PF11380; PF17102; PF17103 |
| In ASD | no |
| Allosteric Prediction | no (-0.992985255) |
| Ortholog in Animals | Alpaca_ GNPTAB ( ortholog_one2one ) Dog_ GNPTAB ( ortholog_one2one ) GuineaPig_ GNPTAB ( ortholog_one2one ) Macaque_ GNPTAB ( ortholog_one2one ) Mouse_ Gnptab ( ortholog_one2one ) Pig_ GNPTAB ( ortholog_one2one ) Rat_ Gnptab ( ortholog_one2one ) Rabbit_ GNPTAB ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:16120602}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2N6D (NMR - ) 7S05 (EM 3.10A ) 7S06 (EM 3.30A ) |
| DBSNP | rs34159654 rs281864947 rs281864953 rs281864958 rs34946266 rs281864959 rs281864970 rs281864970 rs7958709 rs137852900 rs281865026 rs281864973 rs137852895 rs281864975 rs137853822 rs281864977 rs281864979 rs281864980 rs143788461 rs149390820 rs137853823 rs386765812 rs142172397 rs281864989 rs144060383 rs281865002 rs281865003 rs138390866 rs281865005 rs281865004 rs769587233 rs281865006 rs281865007 rs281865010 rs281865019 rs137853825 |
| Subcellular location [CC] | [N-acetylglucosamine-1-phosphotransferase subunit alpha]: Golgi apparatus membrane {ECO:0000269|PubMed:16120602, ECO:0000269|PubMed:16200072, ECO:0000269|PubMed:21719679, ECO:0000269|PubMed:23733939, ECO:0000269|PubMed:24375680, ECO:0000269|PubMed:25788519, ECO:0000269|PubMed:28918368}; Single-pass type I membrane protein {ECO:0000305}.; [N-acetylglucosamine-1-phosphotransferase subunit beta]: Golgi apparatus membrane {ECO:0000269|PubMed:16120602, ECO:0000269|PubMed:16200072, ECO:0000269|PubMed:21719679, ECO:0000269|PubMed:23733939, ECO:0000269|PubMed:24375680, ECO:0000269|PubMed:28918368}; Single-pass type II membrane protein {ECO:0000305}. |
| Mouse PG classification | NA |
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