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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
Summary
- UniProt ID
- Q3T906
- Gene Symbol
-
- GNPTAB
- GNPTA
- KIAA1208
- Organism
- Homo sapiens (human)
External Links
- GlyConnect
- GlyGen
- Q3T906
- PubChem
- Q3T906
- The Human Metabolome Database
- HMDBP09389
- The O-GlcNAc Database
- Q3T906
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium
- Disease variant
- Disulfide bond
- Glycoprotein
- Golgi apparatus
- Metal-binding
- Mucolipidosis
- Reference proteome
- Repeat
- Signal-anchor
- Transferase
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| lysosome organization |
| N-glycan processing to lysosome |
| carbohydrate phosphorylation |
| secretion of lysosomal enzymes |
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| GO Term |
|---|
| calcium ion binding |
| UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity |
Sequence
MLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEWSRDQYHVLFDSYRDNIAGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEEEQKAMREILGKNTTEPTKKSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPSFHSASDIFNVAKPKNPSTNVSVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEVPGLVLMQDLAFLSGFPPTFKETNQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKDFQELNKQTKKNMTIDGKELTISPAYLLWDLSAISQSKQDEDISASRFEDNEELRYSLRSIERHAPWVRNIFIVTNGQIPSWLNLDNPRVTIVTHQDVFRNLSHLPTFSSPAIESHIHRIEGLSQKFIYLNDDVMFGKDVWPDDFYSHSKGQKVYLTWPVPNCAEGCPGSWIKDGYCDKACNNSACDWDGGDCSGNSGGSRYIAGGGGTGSIGVGQPWQFGGGINSVSYCNQGCANSWLADKFCDQACNVLSCGFDAGDCGQDHFHELYKVILLPNQTHYIIPKGECLPYFSFAEVAKRGVEGAYSDNPIIRHASIANKWKTIHLIMHSGMNATTIHFNLTFQNTNDEEFKMQITVEVDTREGPKLNSTAQKGYENLVSPITLLPEAEILFEDIPKEKRFPKFKRHDVNSTRRAQEEVKIPLVNISLLPKDAQLSLNTLDLQLEHGDITLKGYNLSKSALLRSFLMNSQHAKIKNQAIITDETNDSLVAPQEKQVHKSILPNSLGVSERLQRLTFPAVSVKVNGHDQGQNPPLDLETTARFRVETHTQKTIGGNVTKEKPPSLIVPLESQMTKEKKITGKEKENSRMEENAENHIGVTEVLLGRKLQHYTDSYLGFLPWEKKKYFQDLLDEEESLKTQLAYFTDSKNTGRQLKDTFADSLRYVNKILNSKFGFTSRKVPAHMPHMIDRIVMQELQDMFPEEFDKTSFHKVRHSEDMQFAFSYFYYLMSAVQPLNISQVFDEVDTDQSGVLSDREIRTLATRIHELPLSLQDLTGLEHMLINCSKMLPADITQLNNIPPTQESYYDPNLPPVTKSLVTNCKPVTDKIHKAYKDKNKYRFEIMGEEEIAFKMIRTNVSHVVGQLDDIRKNPRKFVCLNDNIDHNHKDAQTVKAVLRDFYESMFPIPSQFELPREYRNRFLHMHELQEWRAYRDKLKFWTHCVLATLIMFTIFSFFAEQLIALKRKIFPRRRIHKEASPNRIRV
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 67 |
|
|
||
| 83 | N-linked (GlcNAc...) asparagine |
|
||
| 114 | N-linked (GlcNAc...) asparagine |
|
||
| 148 | N-linked (GlcNAc...) asparagine | |||
| 179 | N-linked (GlcNAc...) asparagine | |||
| 250 | N-linked (GlcNAc...) asparagine | |||
| 287 |
|
|||
| 376 |
|
|||
| 384 |
|
|||
| 385 |
|
G80920RR
G04657PL
G25451PN
G27058EU
G84452RH
G20210JR
G23294PN
G31852PQ
G45395BF
G82830MN
G57776ZU
G83460ZZ
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0014667 | disease of metabolism | |
| DOID:0050387 | nonpapillary renal cell carcinoma | |
| DOID:0050431 | arrhythmogenic right ventricular cardiomyopathy | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050847 | sleep apnea | |
| DOID:0050848 | obstructive sleep apnea | |
| DOID:0060243 | stuttering | |
| DOID:0060249 | scoliosis | |
| DOID:0060305 | megalocornea | |
| DOID:0060320 | inguinal hernia |
