Gene
usb1
- ID
- ZDB-GENE-040801-197
- Name
- U6 snRNA biogenesis 1
- Symbol
- usb1 Nomenclature History
- Previous Names
-
- zgc:91896 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends. Acts upstream of or within neutrophil differentiation and regulation of RNA splicing. Predicted to be active in nucleus. Is expressed in several structures, including gonad; head; heart; liver; and pectoral fin. Used to study ablepharon macrostomia syndrome and poikiloderma with neutropenia. Human ortholog(s) of this gene implicated in poikiloderma with neutropenia. Orthologous to human USB1 (U6 snRNA biogenesis phosphodiesterase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:91896 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-usb1 | Martínez-Balsalobre et al., 2023 | |
| MO1-usb1 | N/A | Patil et al., 2015 |
| MO2-usb1 | N/A | Patil et al., 2015 |
| MO3-usb1 | N/A | Colombo et al., 2015 |
| MO4-usb1 | N/A | Colombo et al., 2015 |
1 - 5 of 5
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| poikiloderma with neutropenia | Alliance | Poikiloderma with neutropenia | 604173 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR027521 | U6 snRNA phosphodiesterase 1 |
Domain Details Per Protein
| Protein | Additional Resources | Length | U6 snRNA phosphodiesterase 1 |
|---|---|---|---|
| UniProtKB:A0A8M3APM6 | InterPro | 278 | |
| UniProtKB:Q6DEF6 | InterPro | 276 | |
| UniProtKB:A0A8M3AZL1 | InterPro | 214 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-212I17 | ZFIN Curated Data | |
| Contained in | BAC | CH211-172L8 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:91896 | ZFIN Curated Data |
1 - 3 of 3
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001003460 (1) | 1930 nt | ||
| Genomic | GenBank:CR381560 (1) | 145001 nt | ||
| Polypeptide | UniProtKB:A0A8M3APM6 (1) | 278 aa |
- Martínez-Balsalobre, E., García-Castillo, J., García-Moreno, D., Naranjo-Sánchez, E., Fernández-Lajarín, M., Blasco, M.A., Alcaraz-Pérez, F., Mulero, V., Cayuela, M.L. (2023) Telomerase RNA-based aptamers restore defective myelopoiesis in congenital neutropenic syndromes. Nature communications. 14:59125912
- Colombo, E.A., Carra, S., Fontana, L., Bresciani, E., Cotelli, F., Larizza, L. (2015) A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor. Scientific Reports. 5:15814
- 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
- Patil, P., Uechi, T., Kenmochi, N. (2015) Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia. RNA Biology. 12:426-434
- 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
1 - 5 of 5
Show