Gene
ugp2a
- ID
- ZDB-GENE-090311-46
- Name
- UDP-glucose pyrophosphorylase 2a
- Symbol
- ugp2a Nomenclature History
- Previous Names
-
- si:ch73-233a22.2
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable UTP:glucose-1-phosphate uridylyltransferase activity. Involved in larval locomotory behavior. Predicted to be active in cytoplasm. Is expressed in liver. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 83. Orthologous to human UGP2 (UDP-glucose pyrophosphorylase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Shao et al., 2022
- 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 |
---|---|---|---|---|---|
la021284Tg | Transgenic insertion | Unknown | Unknown | DNA | |
re08 | Allele with one deletion | Unknown | Unknown | CRISPR | |
sa39690 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
zko987a | Allele with one insertion | Unknown | Unknown | CRISPR | |
zko987b | Allele with one deletion | Unknown | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-ugp2a | (2) | |
CRISPR2-ugp2a | Perenthaler et al., 2019 | |
CRISPR3-ugp2a | (2) | |
CRISPR4-ugp2a | (2) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental and epileptic encephalopathy 83 | Alliance | Developmental and epileptic encephalopathy 83 | 618744 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Nucleotide-diphospho-sugar transferases | UDPGP family | UTP--glucose-1-phosphate uridylyltransferase |
---|---|---|---|---|---|
UniProtKB:B8JMZ1 | InterPro | 507 | |||
UniProtKB:A0A8M2B230 | InterPro | 541 |
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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 | CH73-233A22 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001145557 (1) | |||
Genomic | GenBank:CU651563 (1) | 99177 nt | ||
Polypeptide | UniProtKB:A0A8M2B230 (1) | 541 aa |
- Qian, X., Klatt, S., Bennewitz, K., Wohlfart, D.P., Lou, B., Meng, Y., Buettner, M., Poschet, G., Morgenstern, J., Fleming, T., Sticht, C., Hausser, I., Fleming, I., Szendroedi, J., Nawroth, P.P., Kroll, J. (2023) Impaired Detoxification of Trans, Trans-2,4-Decadienal, an Oxidation Product from Omega-6 Fatty Acids, Alters Insulin Signaling, Gluconeogenesis and Promotes Microvascular Disease. Advanced science (Weinheim, Baden-Wurttemberg, Germany). 11(4):e2302325
- Shao, R., Liao, X., Lan, Y., Zhang, H., Jiao, L., Du, Q., Han, D., Ai, Q., Mai, K., Wan, M. (2022) Vitamin D regulates insulin pathway and glucose metabolism in zebrafish (Danio rerio). FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 36:e22330
- Yang, H., Huang, Y., Li, Z., Guo, Y., Li, S., Huang, H., Yang, X., Li, G., Chen, H. (2022) Effects of Dietary Supplementation with Aurantiochytrium sp. on Zebrafish Growth as Determined by Transcriptomics. Animals : an open access journal from MDPI. 12(20):
- Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W.M., Alsagob, M., Capo, I., van der Linde, H.C., van den Berg, P., Jacobs, E.H., Putar, D., Ghazvini, M., Aronica, E., van IJcken, W.F.J., de Valk, W.G., Medici-van den Herik, E., van Slegtenhorst, M., Brick, L., Kozenko, M., Kohler, J.N., Bernstein, J.A., Monaghan, K.G., Begtrup, A., Torene, R., Al Futaisi, A., Al Murshedi, F., Mani, R., Al Azri, F., Kamsteeg, E.J., Mojarrad, M., Eslahi, A., Khazaei, Z., Darmiyan, F.M., Doosti, M., Karimiani, E.G., Vandrovcova, J., Zafar, F., Rana, N., Kandaswamy, K.K., Hertecant, J., Bauer, P., AlMuhaizea, M.A., Salih, M.A., Aldosary, M., Almass, R., Al-Quait, L., Qubbaj, W., Coskun, S., Alahmadi, K.O., Hamad, M.H.A., Alwadaee, S., Awartani, K., Dababo, A.M., Almohanna, F., Colak, D., Dehghani, M., Mehrjardi, M.Y.V., Gunel, M., Ercan-Sencicek, A.G., Passi, G.R., Cheema, H.A., Efthymiou, S., Houlden, H., Bertoli-Avella, A.M., Brooks, A.S., Retterer, K., Maroofian, R., Kaya, N., van Ham, T.J., Barakat, T.S. (2019) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathologica. 139(3):415-442
- Sun, Y., Zhang, B., Luo, L., Shi, D.L., Wang, H., Cui, Z., Huang, H., Cao, Y., Shu, X., Zhang, W., Zhou, J., Li, Y., Du, J., Zhao, Q., Chen, J., Zhong, H., Zhong, T.P., Li, L., Xiong, J.W., Peng, J., Xiao, W., Zhang, J., Yao, J., Yin, Z., Mo, X., Peng, G., Zhu, J., Chen, Y., Zhou, Y., Liu, D., Pan, W., Zhang, Y., Ruan, H., Liu, F., Zhu, Z., Meng, A., ZAKOC Consortium (2019) Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9. Genome research. 30(1):118-26
- 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
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- 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
- 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
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