Gene
sbds
- ID
- ZDB-GENE-040426-1116
- Name
- SBDS ribosome maturation factor
- Symbol
- sbds Nomenclature History
- Previous Names
-
- zgc:56700 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including cytosolic ribosome assembly; exocrine pancreas development; and granulocyte differentiation. Predicted to be located in cytoplasm; nuclear lumen; and spindle. Is expressed in gut; liver; pancreas; and pharyngeal arch 3-7. Used to study Shwachman-Diamond syndrome. Human ortholog(s) of this gene implicated in Shwachman-Diamond syndrome and aplastic anemia. Orthologous to human SBDS (SBDS ribosome maturation factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7141500 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sbds | (3) | |
| CRISPR2-sbds | (3) | |
| MO1-sbds | N/A | Venkatasubramani et al., 2008 |
| MO2-sbds | N/A | Venkatasubramani et al., 2008 |
| MO3-sbds | N/A | Venkatasubramani et al., 2008 |
| MO4-sbds | N/A | Provost et al., 2012 |
| MO5-sbds | N/A | Provost et al., 2012 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| aplastic anemia | Alliance | {Aplastic anemia, susceptibility to} | 609135 |
| Shwachman-Diamond syndrome | Alliance | Shwachman-Diamond syndrome 1 | 260400 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018023 | Ribosome maturation protein SBDS, conserved site |
| Domain | IPR018978 | Ribosome maturation protein SDO1/SBDS, central domain |
| Domain | IPR019783 | Ribosome maturation protein SDO1/SBDS, N-terminal |
| Domain | IPR046928 | Ribosome maturation protein SDO1/SBDS, C-terminal domain |
| Family | IPR002140 | Ribosome maturation protein Sdo1/SBDS |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Ribosome maturation protein SBDS, conserved site | Ribosome maturation protein SBDS, N-terminal domain superfamily | Ribosome maturation protein Sdo1/SBDS | Ribosome maturation protein SDO1/SBDS, central domain | Ribosome maturation protein Sdo1/SBDS, central domain superfamily | Ribosome maturation protein SDO1/SBDS, C-terminal domain | Ribosome maturation protein Sdo1/SBDS-like | Ribosome maturation protein SDO1/SBDS, N-terminal |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7ZW65 | InterPro | 231 | ||||||||
| UniProtKB:A0A8M1PE31 | InterPro | 250 |
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Interactions and Pathways
No data available
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(ubb:LOXP-sbds-LOXP-GFP) |
|
| 1 | Oyarbide et al., 2020 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | Fosmid | ZFOS-2415A2 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7141500 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:56700 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174541 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_201121 (1) | 1419 nt | ||
| Genomic | GenBank:CU914374 (2) | 29670 nt | ||
| Polypeptide | UniProtKB:A0A8M1PE31 (1) | 250 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | SBDS | 7 | Amino acid sequence comparison (1) |
- Oyarbide, U., Bezzerri, V., Staton, M., Boni, C., Shah, A., Cipolli, M., Calo, E., Corey, S.J. (2025) Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome. The Journal of Clinical Investigation. :
- Oyarbide, U., Shah, A.N., Staton, M., Snyderman, M., Sapra, A., Calo, E., Corey, S.J. (2023) SBDSR126T rescues survival of sbds-/- zebrafish in a dose-dependent manner independently of Tp53. Life science alliance. 6(12):
- Oyarbide, U., Shah, A.N., Amaya-Mejia, W., Snyderman, M., Kell, M., Allende, D., Calo, E., Topczewski, J., Corey, S. (2020) Loss of Sbds in zebrafish leads to neutropenia and pancreas and liver atrophy. JCI insight. 5(17)
- 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
- Provost, E., Wehner, K.A., Zhong, X., Ashar, F., Nguyen, E., Green, R., Parsons, M.J., and Leach, S.D. (2012) Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development. Development (Cambridge, England). 139(17):3232-3241
- Delalande, J.M., Guyote, M.E., Smith, C.M., and Shepherd, I.T. (2008) Zebrafish sip1a and sip1b are essential for normal axial and neural patterning. Developmental Dynamics : an official publication of the American Association of Anatomists. 237(4):1060-1069
- Venkatasubramani, N., and Mayer, A.N. (2008) A Zebrafish Model for the Shwachman-Diamond Syndrome (SDS). Pediatric Research. 63(4):348-352
- 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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