Gene
cbsb
- ID
- ZDB-GENE-021030-3
- Name
- cystathionine beta-synthase b
- Symbol
- cbsb Nomenclature History
- Previous Names
-
- cbs
- cb442 (1)
- wu:fb37g05
- wu:fm61c07
- wu:fq06c06
- zgc:113704
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable cystathionine beta-synthase activity. Acts upstream of or within axis elongation and regulation of homocysteine metabolic process. Predicted to be active in cytoplasm. Is expressed in several structures, including digestive system; germ ring; immature eye; musculature system; and nervous system. Human ortholog(s) of this gene implicated in several diseases, including cerebral infarction; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect. Orthologous to human CBS (cystathionine beta-synthase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb442 (20 images)
- IMAGE:7147404 (15 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cbsb | (2) | |
| CRISPR2-cbsb | Jiang et al., 2020 | |
| MO1-cbsb | N/A | (2) |
| MO2-cbsb | N/A | (2) |
| MO3-cbsb | N/A | Prabhudesai et al., 2018 |
| MO4-cbsb | N/A | Prabhudesai et al., 2018 |
| MO5-cbsb | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| homocystinuria | Alliance | Homocystinuria, B6-responsive and nonresponsive types | 236200 |
| homocystinuria | Alliance | Thrombosis, hyperhomocysteinemic | 236200 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR001216 | Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site |
| Domain | IPR000644 | CBS domain |
| Domain | IPR001926 | Tryptophan synthase beta chain-like, PALP domain |
| Domain | IPR046353 | Cystathionine beta-synthase, C-terminal domain |
| Family | IPR005857 | Cystathionine beta-synthase |
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Domain Details Per Protein
| Protein | Additional Resources | Length | CBS domain | CBS domain superfamily | Cystathionine beta-synthase | Cystathionine beta-synthase, C-terminal domain | Cysteine synthase/Cystathionine beta-synthase | Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site | Tryptophan synthase beta chain-like, PALP domain | Tryptophan synthase beta chain-like, PALP domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q5EI65 | InterPro | 597 | ||||||||
| UniProtKB:A0A8M1N4Z7 | InterPro | 597 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-214P13 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-392N17 | ZFIN Curated Data | |
| Encodes | EST | cb442 | Thisse et al., 2001 | |
| Encodes | EST | fb37g05 | ||
| Encodes | EST | fb83h03 | Rauch et al., 2003 | |
| Encodes | EST | fm61c07 | ZFIN Curated Data | |
| Encodes | EST | fq06c06 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7147404 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:113704 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001014345 (1) | 2857 nt | ||
| Genomic | GenBank:AL954142 (2) | 238837 nt | ||
| Polypeptide | UniProtKB:A0A8M1N4Z7 (1) | 597 aa |
- Chatterjee, B., Fatima, F., Seth, S., Sinha Roy, S. (2024) Moderate Elevation of Homocysteine Induces Endothelial Dysfunction through Adaptive UPR Activation and Metabolic Rewiring. Cells. 13(3):
- Freeburg, S.H., Shwartz, A., Kemény, L.V., Smith, C.J., Weeks, O., Miller, B.M., PenkoffLidbeck, N., Fisher, D.E., Evason, K.J., Goessling, W. (2024) Hepatocyte vitamin D receptor functions as a nutrient sensor that regulates energy storage and tissue growth in zebrafish. Cell Reports. 43:114393114393
- Koslow, M., Zhu, P., McCabe, C., Xu, X., Lin, X. (2023) Kidney transcriptome and cystic kidney disease genes in zebrafish. Frontiers in Physiology. 14:11840251184025
- Dey, A., Prabhudesai, S., Zhang, Y., Rao, G., Thirugnanam, K., Hossen, M.N., Dwivedi, S.K.D., Ramchandran, R., Mukherjee, P., Bhattacharya, R. (2020) Cystathione β-synthase regulates HIF-1α stability through persulfidation of PHD2. Science advances. 6(27):
- Jiang, W., Liu, C., Deng, M., Wang, F., Ren, X., Fan, Y., Du, J., Wang, Y. (2020) H2S promotes developmental brain angiogenesis via the NOS/NO pathway in zebrafish. Stroke and vascular neurology. 6(2):244-251
- Adam, A.C., Skjærven, K.H., Whatmore, P., Moren, M., Lie, K.K. (2018) Parental high dietary arachidonic acid levels modulated the hepatic transcriptome of adult zebrafish (Danio rerio) progeny. PLoS One. 13:e0201278
- Perna, A.F., Anishchenko, E., Vigorito, C., Zacchia, M., Trepiccione, F., D'Aniello, S., Ingrosso, D. (2018) Zebrafish, a Novel Model System to Study Uremic Toxins: The Case for the Sulfur Amino Acid Lanthionine. International Journal of Molecular Sciences. 19(5)
- Prabhudesai, S., Koceja, C., Dey, A., Eisa-Beygi, S., Leigh, N.R., Bhattacharya, R., Mukherjee, P., Ramchandran, R. (2018) Cystathionine β-Synthase Is Necessary for Axis Development in Vivo.. Frontiers in cell and developmental biology. 6:14
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
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