Gene
snrpe
- ID
- ZDB-GENE-040426-1112
- Name
- small nuclear ribonucleoprotein polypeptide E
- Symbol
- snrpe Nomenclature History
- Previous Names
-
- zgc:56682
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable RNA binding activity. Predicted to be involved in spliceosomal snRNP assembly. Predicted to act upstream of or within RNA splicing and mRNA processing. Predicted to be located in cytosol and nucleus. Predicted to be part of several cellular components, including U2-type spliceosomal complex; methylosome; and spliceosomal snRNP complex. Is expressed in head. Human ortholog(s) of this gene implicated in hepatocellular carcinoma; hypotrichosis 1; hypotrichosis 11; and lupus nephritis. Orthologous to human SNRPE (small nuclear ribonucleoprotein polypeptide E).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56682 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Chen et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la017894Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa45438 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hypotrichosis 11 | Alliance | Hypotrichosis 11 | 615059 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | LSM domain superfamily | Small nuclear ribonucleoprotein E | Sm domain | Sm domain, eukaryotic/archaea-type |
---|---|---|---|---|---|
UniProtKB:Q7ZUG0
|
92 |
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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 | DKEY-37M22 | ZFIN Curated Data | |
Encodes | cDNA | MGC:56682 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_201004 (1) | 540 nt | ||
Genomic | GenBank:BX005282 (1) | 153270 nt | ||
Polypeptide | UniProtKB:Q7ZUG0 (1) | 92 aa |
- Can, H., Chanumolu, S.K., Gonzalez-Muñoz, E., Prukudom, S., Otu, H.H., Cibelli, J.B. (2020) Comparative analysis of single-cell transcriptomics in human and Zebrafish oocytes. BMC Genomics. 21:471
- Lee, Y.R., Khan, K., Armfield-Uhas, K., Srikanth, S., Thompson, N.A., Pardo, M., Yu, L., Norris, J.W., Peng, Y., Gripp, K.W., Aleck, K.A., Li, C., Spence, E., Choi, T.I., Kwon, S.J., Park, H.M., Yu, D., Do Heo, W., Mooney, M.R., Baig, S.M., Wentzensen, I.M., Telegrafi, A., McWalter, K., Moreland, T., Roadhouse, C., Ramsey, K., Lyons, M.J., Skinner, C., Alexov, E., Katsanis, N., Stevenson, R.E., Choudhary, J.S., Adams, D.J., Kim, C.H., Davis, E.E., Schwartz, C.E. (2020) Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature communications. 11:3698
- Chen, T., Zhang, B., Ziegenhals, T., Prusty, A.B., Fröhler, S., Grimm, C., Hu, Y., Schaefke, B., Fang, L., Zhang, M., Kraemer, N., Kaindl, A.M., Fischer, U., Chen, W. (2019) A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing. PLoS Genetics. 15:e1008460
- Iwanami, N., Sikora, K., Richter, A.S., Mönnich, M., Guerri, L., Soza-Ried, C., Lawir, D.F., Mateos, F., Hess, I., O'Meara, C.P., Schorpp, M., Boehm, T. (2016) Forward Genetic Screens in Zebrafish Identify Pre-mRNA-Processing Pathways Regulating Early T Cell Development. Cell Reports. 17:2259-2270
- 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
- Markmiller, S., Cloonan, N., Lardelli, R.M., Doggett, K., Keightley, M.C., Boglev, Y., Trotter, A.J., Ng, A.Y., Wilkins, S.J., Verkade, H., Ober, E.A., Field, H.A., Grimmond, S.M., Lieschke, G.J., Stainier, D.Y., and Heath, J.K. (2014) Minor class splicing shapes the zebrafish transcriptome during development. Proceedings of the National Academy of Sciences of the United States of America. 111(8):3062-3067
- 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
- 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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