Gene
pofut1
- ID
- ZDB-GENE-040303-2
- Name
- protein O-fucosyltransferase 1
- Symbol
- pofut1 Nomenclature History
- Previous Names
-
- zgc:110472
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable peptide-O-fucosyltransferase activity. Predicted to be involved in protein O-linked fucosylation and regulation of Notch signaling pathway. Predicted to act upstream of or within Notch signaling pathway and fucose metabolic process. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Dowling-Degos disease. Orthologous to human POFUT1 (protein O-fucosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6906979 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-pofut1 | N/A | Ohata et al., 2009 |
| MO2-pofut1 | N/A | Li et al., 2013 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Dowling-Degos disease | Alliance | Dowling-Degos disease 2 | 615327 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | GDP-fucose protein O-fucosyltransferase | GDP-fucose protein O-fucosyltransferase 1 |
|---|---|---|---|---|
| UniProtKB:F1R676 | InterPro | 395 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pofut1-201
(1)
|
Ensembl | 1,549 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 | CH211-254L12 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6906979 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7144114 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:110472 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192645 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_205718 (1) | 1994 nt | ||
| Genomic | GenBank:CU914163 (2) | 131057 nt | ||
| Polypeptide | UniProtKB:F1R676 (1) | 395 aa |
- 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
- Li, M., Cheng, R., Liang, J., Yan, H., Zhang, H., Yang, L., Li, C., Jiao, Q., Lu, Z., He, J., Ji, J., Shen, Z., Li, C., Hao, F., Yu, H., and Yao, Z. (2013) Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease. American journal of human genetics. 92(6):895-903
- Dehnert, K.W., Beahm, B.J., Huynh, T.T., Baskin, J.M., Laughlin, S.T., Wang, W., Wu, P., Amacher, S.L., and Bertozzi, C.R. (2011) Metabolic Labeling of Fucosylated Glycans in Developing Zebrafish. ACS Chemical Biology. 6(6):547-52
- Ohata, S., Kinoshita, S., Aoki, R., Tanaka, H., Wada, H., Tsuruoka-Kinoshita, S., Tsuboi, T., Watabe, S., and Okamoto, H. (2009) Neuroepithelial cells require fucosylated glycans to guide the migration of vagus motor neuron progenitors in the developing zebrafish hindbrain. Development (Cambridge, England). 136(10):1653-1663
- 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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