Gene
xylt1
- ID
- ZDB-GENE-111017-2
- Name
- xylosyltransferase I
- Symbol
- xylt1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable protein xylosyltransferase activity. Acts upstream of or within embryonic cranial skeleton morphogenesis and proteoglycan biosynthetic process. Predicted to be located in Golgi membrane. Is expressed in cartilage element; forebrain; and opercle. Human ortholog(s) of this gene implicated in Desbuquois dysplasia; pseudoxanthoma elasticum; and type 1 diabetes mellitus. Orthologous to human XYLT1 (xylosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Eames et al., 2011
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| b1128 | Allele with one point mutation | Donor Splice Site of Exon 9 | Cryptic Donor Splice Site, Frameshift | ENU | |
| b1189 | Allele with one point mutation | Exon 7 | Missense | ENU | |
| sa6892 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33177 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Desbuquois dysplasia | Alliance | Desbuquois dysplasia 2 | 615777 |
| pseudoxanthoma elasticum | Alliance | {Pseudoxanthoma elasticum, modifier of severity of} | 264800 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Glycosyl transferase, family 14 | Xylosyltransferase | Xylosyltransferase, C-terminal |
|---|---|---|---|---|---|
| UniProtKB:D3J0E7 | InterPro | 919 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-156B7 | ZFIN Curated Data | |
| Contained in | BAC | CH211-276P20 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-79G12 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001172397 (1) | 2760 nt | ||
| Genomic | GenBank:CR450821 (1) | 163751 nt | ||
| Polypeptide | UniProtKB:D3J0E7 (1) | 919 aa |
- 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
- 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
- Eames, B.F., Yan, Y.L., Swartz, M.E., Levic, D.S., Knapik, E.W., Postlethwait, J.H., and Kimmel, C.B. (2011) Mutations in fam20b and xylt1 Reveal That Cartilage Matrix Controls Timing of Endochondral Ossification by Inhibiting Chondrocyte Maturation. PLoS Genetics. 7(8):e1002246
- Miller, M.R., Atwood, T.S., Eames, B.F., Eberhart, J.K., Yan, Y.L., Postlethwait, J.H., and Johnson, E.A. (2007) RAD marker microarrays enable rapid mapping of zebrafish mutations. Genome biology. 8(6):R105
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