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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Beta-1,4 N-acetylgalactosaminyltransferase 1
Summary
- UniProt ID
- Q00973
- Gene Symbol
-
- B4GALNT1
- GALGT
- SIAT2
- Organism
- Homo sapiens (human)
External Links
- PubChem
- Q00973
- SwissLipids
- The Human Metabolome Database
- HMDBP00873
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Disulfide bond
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Hereditary spastic paraplegia
- Reference proteome
- Signal-anchor
- Sphingolipid metabolism
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| carbohydrate metabolic process |
| glycosphingolipid metabolic process |
| vacuole organization |
| spermatogenesis |
| motor behavior |
| nerve development |
| limb development |
| lipid glycosylation |
| lipid storage |
| ganglioside biosynthetic process |
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| membrane |
| GO Term |
|---|
| (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity |
| acetylgalactosaminyltransferase activity |
Sequence
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Glycosphingolipid biosynthesis | Homo sapiens |
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:0050387 | nonpapillary renal cell carcinoma | |
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0050886 | Troyer syndrome | |
| DOID:0060245 | Mast syndrome | |
| DOID:0060246 | MASA syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060491 | SPOAN syndrome | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 |
