Gene
cpsf1
- ID
- ZDB-GENE-040709-2
- Name
- cleavage and polyadenylation specific factor 1
- Symbol
- cpsf1 Nomenclature History
- Previous Names
-
- wu:fb24c01
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable NAD+ poly-ADP-ribosyltransferase activity and nucleic acid binding activity. Acts upstream of or within cytosolic mRNA polyadenylation; definitive hemopoiesis; and retinal ganglion cell axon guidance. Predicted to be located in nucleoplasm. Predicted to be part of mRNA cleavage and polyadenylation specificity factor complex. Predicted to be active in nucleus. Is expressed in brain; gut; head; and pectoral fin. Human ortholog(s) of this gene implicated in myopia. Orthologous to human CPSF1 (cleavage and polyadenylation specific factor 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:6894052 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi2675Tg | Transgenic insertion | Exon 2 | Unknown | DNA | |
| sa16124 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23476 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa29173 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36798 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44909 | Allele with one point mutation | Unknown | Unknown | ENU | |
| zdfI8a12 | Allele with one point mutation | Exon 9 | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-cpsf1 | N/A | Bolli et al., 2011 |
| MO2-cpsf1 | N/A | Bolli et al., 2011 |
| MO3-cpsf1 | N/A | Bolli et al., 2011 |
| MO4-cpsf1 | N/A | Bolli et al., 2011 |
| MO5-cpsf1 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Myopia 27 | 618827 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Cleavage/polyadenylation specificity factor, A subunit, C-terminal | RSE1/DDB1/CFT1/CPSF1 | RSE1/DDB1/CPSF1, first beta-propeller domain | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1NHR0 | InterPro | 1449 | ||||
| UniProtKB:F6NXE7 | InterPro | 1448 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-169C1 | ZFIN Curated Data | |
| Encodes | EST | fb24c01 | ||
| Encodes | EST | IMAGE:6894052 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:171224 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001114681 (1) | 4749 nt | ||
| Genomic | GenBank:CU467825 (1) | 119744 nt | ||
| Polypeptide | UniProtKB:A0A8M1NHR0 (1) | 1449 aa |
- Wang, Y., Shen, D., Ullah, N., Diaby, M., Gao, B., Song, C. (2021) Characterization and expression pattern of ZB and PS transposons in zebrafish. Gene expression patterns : GEP. 42:119203
- Ouyang, J., Sun, W., Xiao, X., Li, S., Jia, X., Zhou, L., Wang, P., Zhang, Q. (2019) CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection. Human molecular genetics. 28(12):1959-1970
- Moore, F.E., Garcia, E.G., Lobbardi, R., Jain, E., Tang, Q., Moore, J.C., Cortes, M., Molodtsov, A., Kasheta, M., Luo, C.C., Garcia, A.J., Mylvaganam, R., Yoder, J.A., Blackburn, J.S., Sadreyev, R.I., Ceol, C.J., North, T.E., Langenau, D.M. (2016) Single-cell transcriptional analysis of normal, aberrant, and malignant hematopoiesis in zebrafish. The Journal of experimental medicine. 213(6):979-92
- 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
- Bolli, N., Payne, E.M., Rhodes, J., Gjini, E., Johnston, A.B., Guo, F., Lee, J.S., Stewart, R.A., Kanki, J.P., Chen, A.T., Zhou, Y., Zon, L.I., and Look, A.T. (2011) cpsf1 is required for definitive HSC survival in zebrafish. Blood. 117(15):3996-4007
- 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
- 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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