Gene
ext1a
- ID
- ZDB-GENE-050211-3
- Name
- exostosin glycosyltransferase 1a
- Symbol
- ext1a Nomenclature History
- Previous Names
-
- fd07d06
- wu:fd07d06
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including brain; forebrain neural keel; neural plate; optic vesicle; and tail bud. Human ortholog(s) of this gene implicated in chondrosarcoma and hereditary multiple exostoses. Orthologous to human EXT1 (exostosin glycosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Siekmann et al., 2005
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa2874 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa4684 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa9715 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa22952 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36257 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36258 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| chondrosarcoma | Alliance | Chondrosarcoma | 215300 |
| hereditary multiple exostoses | Alliance | Exostoses, multiple, type 1 | 133700 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Exostosin, GT47 domain | Exostosin-like | Glycosyl transferase 64 domain | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|---|---|---|
| UniProtKB:Q5IGR8 | InterPro | 730 | ||||
| UniProtKB:A3KMS6 | InterPro | 730 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-52D20 | ZFIN Curated Data | |
| Contained in | BAC | CH73-179G5 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-210P14 | ZFIN Curated Data | |
| Encodes | EST | fd07d06 | ||
| Encodes | cDNA | MGC:158551 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001012368 (1) | 3457 nt | ||
| Genomic | GenBank:BX005205 | 164219 nt | ||
| Polypeptide | UniProtKB:A3KMS6 (1) | 730 aa |
- Daakour, S., Hajingabo, L.J., Kerselidou, D., Devresse, A., Kettmann, R., Simonis, N., Dequiedt, F., Twizere, J.C. (2016) Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. BMC cancer. 16:335
- Briolat, V., Jouneau, L., Carvalho, R., Palha, N., Langevin, C., Herbomel, P., Schwartz, O., Spaink, H.P., Levraud, J.P., Boudinot, P. (2014) Contrasted Innate Responses to Two Viruses in Zebrafish: Insights into the Ancestral Repertoire of Vertebrate IFN-Stimulated Genes. Journal of immunology (Baltimore, Md. : 1950). 192:4328-41
- 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
- Siekmann, A.F., and Brand, M. (2005) Distinct tissue-specificity of three zebrafish ext1 genes encoding proteoglycan modifying enzymes and their relationship to somitic Sonic Hedgehog signaling. Developmental Dynamics : an official publication of the American Association of Anatomists. 232(2):498-505
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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