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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
beta-1,4-N-acetyl-galactosaminyltransferase 1
Summary
- Gene Symbol
-
- B4GALNT1
- Aliases
-
- GD2 synthase, GM2 synthase
- beta1-4GalNAc-T
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Disulfide bond
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Hereditary spastic paraplegia
- Proteomics identification
- Reference proteome
- Signal
- Signal-anchor
- Sphingolipid metabolism
- Transferase
- Transmembrane helix
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| carbohydrate metabolic process | ||
| spermatogenesis | ||
| lipid glycosylation | ||
| determination of adult lifespan | ||
| lipid storage |
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
biosynthetic process [inference]
cellular metabolic process [inference]
primary metabolic process [inference]
organic substance metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| membrane | ||
| Golgi apparatus | ||
| Golgi membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| acetylgalactosaminyltransferase activity | ||
| (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
GlycoGene Database (GGDB)
- GGDB ID
- gg104
- Gene Symbol
-
- B4GALNT1
- Reactions
G84224TW
G90562PB
G91237TK
G79389NT
G01767JJ
G13224CR
G98544DH
G02657AK
G75789AR
G56478LD
G40183QN
G65889KE
G03361KC
G71142DF
G46677TE
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | NP_074051 | NM_022860 |
| Mus musculus | NP_032106 | NM_008080 |
KEGG BRITE Database
- Orthology
- K00725
- Name
- (N-Acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase [EC:2.4.1.92]
- References
- Reactions
G93899SO
G36476BA
Rhea
Disease
- Disease Ontology
| 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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000012 | Urinary urgency |
| HP:0000079 | Abnormality of the urinary system |
| HP:0000518 | Cataract |
| HP:0000639 | Nystagmus |
| HP:0000712 | Emotional lability |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001258 | Spastic paraplegia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:101006 |
|
| OMIM:609195 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002758
- Gene Name
- beta-1,4-N-acetyl-galactosaminyl transferase 1
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 102353417 | LATCH20131 | ||
| 102354362 | LATCH20130 | ||
| 793635 | ZFIN:ZDB-GENE-100728-3 | DANRE39088 | |
| 558684 | ZFIN:ZDB-GENE-070112-1462 | ||
| 103039726 | ASTMX09394 | ||
| 113567787 | ELEEL48873 | ||
| 105017218 | ESOLU50558 | ||
| 115150577 | SALTR31871 | ||
| 115207831 | SALTR36560 | ||
| 115557529 | GADMO08941 |
