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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
beta 3-glucosyltransferase
Summary
- Gene Symbol
-
- B3GLCT
- Aliases
-
- B3GTL
- B3Glc-T
- beta-1,3-glucosyltransferase
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 145173
- GGDB ID
- HGNC
- 20207
- mRNA
- map
-
- 13q12.3
- Protein
- OMIM
- KEGG Gene ID
- hsa:145173
- PubChem
- 145173
- Alliance of Genome Resources
Annotation
- Keyword
-
- Congenital disorder of glycosylation
- Dwarfism
- Endoplasmic reticulum
- Fucose metabolism
- Glycoprotein
- Glycosyltransferase
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q6Y288 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| fucose metabolic process | ||
| protein O-linked fucosylation |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycosyltransferase activity | ||
| acetylglucosaminyltransferase activity |
GlycoGene Database (GGDB)
- GGDB ID
- gg184
- Gene Symbol
-
- B3GLCT
- Reactions
G96881BQ
G36855WW
G61459JW
G70899NZ
G39023AU
G71649FF
G40696TO
G61491DK
G57321FI
G71142DF
G61418DU
G65889KE
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Mus musculus | NP_001074673 | NM_001081204 |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110114 | atrial heart septal defect 9 | |
| DOID:0110213 | isolated cleft palate | |
| DOID:0111140 | IGSF1 deficiency syndrome | |
| DOID:0111414 | trichohepatoenteric syndrome | |
| DOID:0111415 | trichohepatoenteric syndrome 1 | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:10426 | Klippel-Feil syndrome | |
| DOID:10488 | imperforate anus | |
| DOID:1059 | intellectual disability | |
| DOID:10871 | age related macular degeneration |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000013 | Hypoplasia of the uterus |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000060 | Clitoral hypoplasia |
| HP:0000073 | Ureteral duplication |
| HP:0000075 | Renal duplication |
| Disease ID | Disease Name |
|---|---|
| OMIM:261540 |
|
| ORPHA:709 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 178968 | WB:WBGene00022576 | ||
| 33844 | FB:FBgn0031765 | ||
| 103177210 | CALMI12521 | ||
| 102363706 | LATCH04385 | ||
| 799443 | ZFIN:ZDB-GENE-110411-147 | DANRE08282 | |
| 564156 | ZFIN:ZDB-GENE-091204-128 | ||
| 101156344 | ORYLA03194 | ||
| 100690575 | ORENI16755 | ||
| 100127336 | Xenbase:XB-GENE-951588 | ||
| 108709947 | Xenbase:XB-GENE-17337382 |
