Gene
ext1c
- ID
- ZDB-GENE-050211-5
- Name
- exostoses (multiple) 1c
- Symbol
- ext1c Nomenclature History
- Previous Names
-
- fa93b07
- wu:fa93b07
- zgc:136662
- Type
- protein_coding_gene
- Location
- Chr: 19 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 brain; fin; otic vesicle; retina; and somite. Orthologous to human EXTL1 (exostosin like glycosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7159691 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la020896Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa23603 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
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:Q5IGR6 | InterPro | 737 | ||||
| UniProtKB:Q1RLZ5 | InterPro | 737 |
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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 | CH73-345A19 | ZFIN Curated Data | |
| Encodes | EST | fa93b07 | ||
| Encodes | EST | fz52c11 | ||
| Encodes | EST | IMAGE:7159691 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:136662 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:175009 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001040330 (1) | 2656 nt | ||
| Genomic | GenBank:CU138512 (1) | 100533 nt | ||
| Polypeptide | UniProtKB:Q1RLZ5 (1) | 737 aa |
No data available
- 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
- 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
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- McGrail, M., Hatler, J.M., Kuang, X., Liao, H.K., Nannapaneni, K., Noack Watt, K.E., Uhl, J.D., Largaespada, D.A., Vollbrecht, E., Scheetz, T.E., Dupuy, A.J., Hostetter, J.M., and Essner, J.J. (2011) Somatic mutagenesis with a sleeping beauty transposon system leads to solid tumor formation in zebrafish. PLoS One. 6(4):e18826
- Hart, D.O., Raha, T., Lawson, N.D., and Green, M.R. (2007) Initiation of zebrafish haematopoiesis by the TATA-box-binding protein-related factor Trf3. Nature. 450(7172):1082-1085
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- 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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