Gene
snrpc
- ID
- ZDB-GENE-020419-26
- Name
- small nuclear ribonucleoprotein polypeptide C
- Symbol
- snrpc Nomenclature History
- Previous Names
-
- chunp6909
- U1C (1)
- zgc:109792
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable pre-mRNA 5'-splice site binding activity. Acts upstream of or within regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be part of U1 snRNP. Human ortholog(s) of this gene implicated in connective tissue disease; mixed connective tissue disease; and systemic lupus erythematosus. Orthologous to human SNRPC (small nuclear ribonucleoprotein polypeptide C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6906904 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
Human Disease
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000690 | Matrin/U1-C, C2H2-type zinc finger |
Domain | IPR003604 | Matrin/U1-C-like, C2H2-type zinc finger |
Domain | IPR013085 | U1-C, C2H2-type zinc finger |
Family | IPR017340 | U1 small nuclear ribonucleoprotein C |
Homologous_superfamily | IPR036236 | Zinc finger C2H2 superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | Matrin/U1-C, C2H2-type zinc finger | Matrin/U1-C-like, C2H2-type zinc finger | U1-C, C2H2-type zinc finger | U1 small nuclear ribonucleoprotein C | Zinc finger C2H2 superfamily |
---|---|---|---|---|---|---|---|
UniProtKB:Q8JGS0 | InterPro | 159 | |||||
UniProtKB:B2GSI1 | InterPro | 159 |
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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 | CH211-233F11 | ZFIN Curated Data | |
Encodes | EST | IMAGE:6906904 | Thisse et al., 2004 | |
Encodes | cDNA | MGC:109792 | ZFIN Curated Data | |
Encodes | cDNA | MGC:192615 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_173251 (1) | 908 nt | ||
Genomic | GenBank:CR847944 (2) | 177870 nt | ||
Polypeptide | UniProtKB:B2GSI1 (1) | 159 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
- Linder, B., Dill, H., Hirmer, A., Brocher, J., Lee, G.P., Mathavan, S., Bolz, H.J., Winkler, C., Laggerbauer, B., and Fischer, U. (2011) Systemic splicing factor deficiency causes tissue-specific defects: A zebrafish model for Retinitis pigmentosa. Human molecular genetics. 20(2):368-377
- Rösel, T.D., Hung, L.H., Medenbach, J., Donde, K., Starke, S., Benes, V., Rätsch, G., and Bindereif, A. (2011) RNA-Seq analysis in mutant zebrafish reveals role of U1C protein in alternative splicing regulation. The EMBO journal. 30(10):1965-1976
- Amsterdam, A., Nissen, R.M., Sun, Z., Swindell, E., Farrington, S., and Hopkins, N. (2004) Identification of 315 genes essential for early zebrafish development. Proceedings of the National Academy of Sciences of the United States of America. 101(35):12792-12797
- Golling, G., Amsterdam, A., Sun, Z., Antonelli, M., Maldonado, E., Chen, W., Burgess, S., Haldi, M., Artzt, K., Farrington, S., Lin, S.Y., Nissen, R.M., and Hopkins, N. (2002) Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate development. Nature Genetics. 31(2):135-140
- 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
- Amsterdam, A., Burgess, S., Golling, G., Chen, W., Sun, Z., Townsend, K., Farrington, S., Haldi, M., and Hopkins, N. (1999) A large-scale insertional mutagenesis screen in zebrafish. Genes & Development. 13(20):2713-2724
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