Gene
b3gat3
- ID
- ZDB-GENE-020419-3
- Name
- beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
- Symbol
- b3gat3 Nomenclature History
- Previous Names
-
- beta-1,3-glucuronyltransferase 3
- CHUNP6865
- fe01c06
- wu:fe01c06
- zgc:112070
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. Acts upstream of or within cartilage development; extracellular matrix organization; and proteoglycan biosynthetic process. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane. Human ortholog(s) of this gene implicated in Larsen-like syndrome B3GAT3 type. Orthologous to human B3GAT3 (beta-1,3-glucuronyltransferase 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Larsen-like syndrome B3GAT3 type | Alliance | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | 245600 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Glycosyl transferase, family 43 | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|
|
UniProtKB:F8W289
|
330 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
b3gat3-202
(1)
|
Ensembl | 3,739 nt | ||
| mRNA |
b3gat3-203
(1)
|
Ensembl | 1,242 nt | ||
| ncRNA |
b3gat3-002
(1)
|
Ensembl | 879 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-23I12 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-269E10 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-129B4 | ZFIN Curated Data | |
| Encodes | BAC END | zk19k20 | ||
| Encodes | EST | eu280 | Thisse et al., 2005 | |
| Encodes | EST | fe01c06 | ||
| Encodes | cDNA | MGC:112070 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001015059 (1) | 1592 nt | ||
| Genomic | GenBank:AL954715 (1) | 195884 nt | ||
| Polypeptide | UniProtKB:F8W289 (1) | 330 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | B3GAT3 | 11 | Nucleotide sequence comparison (1) |
- Delbaere, S., De Clercq, A., Mizumoto, S., Noborn, F., Bek, J.W., Alluyn, L., Gistelinck, C., Syx, D., Salmon, P.L., Coucke, P.J., Larson, G., Yamada, S., Willaert, A., Malfait, F. (2020) b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region. Frontiers in cell and developmental biology. 8:597857
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Wiweger, M.I., de Andrea, C.E., Scheepstra, K.W., Zhao, Z., Hogendoorn, P.C. (2014) Possible effects of EXT2 on mesenchymal differentiation--lessons from the zebrafish. Orphanet journal of rare diseases. 9:35
- Holmborn, K., Habicher, J., Kasza, Z., Eriksson, A.S., Filipek-Gorniok, B., Gopal, S., Couchman, J.R., Ahlberg, P., Wiweger, M., Spillman, D., Kreuger, J., and Ledin, J. (2012) On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis. The Journal of biological chemistry. 287(40):33905-33916
- Wiweger, M.I., Zhao, Z., van Merkesteyn, R.J., Roehl, H.H., and Hogendoornm, P.C. (2012) HSPG-Deficient Zebrafish Uncovers Dental Aspect of Multiple Osteochondromas. PLoS One. 7(1):e29734
- de Andrea, C.E., Prins, F.A., Wiweger, M.I., and Hogendoorn, P.C. (2011) Growth plate regulation and osteochondroma formation: insights from tracing proteoglycans in zebrafish models and human cartilage. The Journal of pathology. 224(2):160-168
- Wiweger, M.I., Avramut, C.M., de Andrea, C.E., Prins, F.A., Koster, A.J., Ravelli, R.B., and Hogendoorn, P.C. (2011) Cartilage ultrastructure in proteoglycan-deficient zebrafish mutants brings to light new candidate genes for human skeletal disorders. The Journal of pathology. 223(4):531-542
- Nissen, R.M., Amsterdam, A., and Hopkins, N. (2006) A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for Endothelin-1 expression. BMC Developmental Biology. 6:28
- Amsterdam, A., Nissen, R.M., Sun, Z., Swindell, E., Farrington, S., and Hopkins, N. (2004) Identification of 315 genes essential for early zebrafish development. Proceedings of the National Academy of Sciences of the United States of America. 101(35):12792-12797
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