Homo sapiens Protein: GNPTAB | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-53419.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | GNPTAB | ||||||||||||||||||
Protein Name | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000299314 | ||||||||||||||||||
InnateDB Gene | IDBG-53417 (GNPTAB) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
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:0000269PubMed:19955174, ECO:0000269PubMed:23733939}. | ||||||||||||||||||
Subcellular Localization | N-acetylglucosamine-1-phosphotransferase subunit alpha: Golgi apparatus membrane; Single-pass type I membrane protein.N-acetylglucosamine-1-phosphotransferase subunit beta: Golgi apparatus membrane; Single-pass type II membrane protein. | ||||||||||||||||||
Disease Associations | Mucolipidosis type II (MLII) [MIM:252500]: Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. {ECO:0000269PubMed:16200072, ECO:0000269PubMed:16835905, ECO:0000269PubMed:19634183, ECO:0000269PubMed:22495880, ECO:0000269PubMed:23566849, ECO:0000269PubMed:23733939, ECO:0000269PubMed:23773965, ECO:0000269PubMed:24375680}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]: Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation. {ECO:0000269PubMed:16094673, ECO:0000269PubMed:16465621, ECO:0000269PubMed:16630736, ECO:0000269PubMed:19197337, ECO:0000269PubMed:19634183, ECO:0000269PubMed:23566849, ECO:0000269PubMed:24045841, ECO:0000269PubMed:24375680}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:16120602}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000800
Notch domain IPR002048 EF-hand domain IPR010506 DMAP1-binding IPR021520 Protein of unknown function DUF3184 |
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PFAM |
PF00066
PF00036 PF13202 PF13405 PF06464 PF11380 |
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PRINTS |
PR01452
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PIRSF | |||||||||||||||||||
SMART |
SM00004
SM00054 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q3T906 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q3T906 | ||||||||||||||||||
TrEMBL | Q9NV34 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 79158 | ||||||||||||||||||
UniGene | Hs.607533 | ||||||||||||||||||
RefSeq | NP_077288 | ||||||||||||||||||
HUGO | HGNC:29670 | ||||||||||||||||||
OMIM | 607840 | ||||||||||||||||||
CCDS | CCDS9088 | ||||||||||||||||||
HPRD | 11350 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB033034 AC063950 AK001821 AK056137 AM085438 AY687932 BC042615 BC071687 BC131787 CR749871 | ||||||||||||||||||
GenPept | AAH42615 AAH71687 AAI31788 AAV98624 BAA86522 BAA91926 BAB71102 CAH18711 CAJ30014 | ||||||||||||||||||