Gene
cbsa
- ID
- ZDB-GENE-050417-367
- Name
- cystathionine beta-synthase a
- Symbol
- cbsa Nomenclature History
- Previous Names
-
- zgc:110199 (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable cystathionine beta-synthase activity. Predicted to be involved in cysteine biosynthetic process from serine; cysteine biosynthetic process via cystathionine; and homocysteine metabolic process. Predicted to act upstream of or within amino acid biosynthetic process. Predicted to be located in cytoplasm and nucleus. Is expressed in several structures, including alar plate midbrain region; digestive system; mesoderm; 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
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110199 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa10945 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cbsa | Prabhudesai et al., 2018 | |
| CRISPR2-cbsa | Sun et al., 2019 | |
| MO1-cbsa | N/A | Chatterjee et al., 2024 |
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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:A9JT04 | InterPro | 571 |
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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 | CH211-237A6 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:110199 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174292 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191566 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:198204 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001111232 (1) | 2874 nt | ||
| Genomic | GenBank:BX950201 (1) | 167099 nt | ||
| Polypeptide | UniProtKB:A9JT04 (1) | 571 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):
- Olsvik, P.A., Whatmore, P., Penglase, S.J., Skjærven, K.H., Anglès d'Auriac, M., Ellingsen, S. (2019) Associations Between Behavioral Effects of Bisphenol A and DNA Methylation in Zebrafish Embryos. Frontiers in genetics. 10:184
- Park, K.H., Kim, S.H. (2019) Low dose of chronic ethanol exposure in adult zebrafish induces hepatic steatosis and injury. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 117:109179
- Sun, Y., Zhang, B., Luo, L., Shi, D.L., Wang, H., Cui, Z., Huang, H., Cao, Y., Shu, X., Zhang, W., Zhou, J., Li, Y., Du, J., Zhao, Q., Chen, J., Zhong, H., Zhong, T.P., Li, L., Xiong, J.W., Peng, J., Xiao, W., Zhang, J., Yao, J., Yin, Z., Mo, X., Peng, G., Zhu, J., Chen, Y., Zhou, Y., Liu, D., Pan, W., Zhang, Y., Ruan, H., Liu, F., Zhu, Z., Meng, A., ZAKOC Consortium (2019) Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9. Genome research. 30(1):118-26
- 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
- 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
- Ellis, L.D., Soo, E.C., Achenbach, J.C., Morash, M.G., Soanes, K.H. (2014) Use of the Zebrafish Larvae as a Model to Study Cigarette Smoke Condensate Toxicity. PLoS One. 9:e115305
- Timme-Laragy, A.R., Goldstone, J.V., Imhoff, B.R., Stegeman, J.J., Hahn, M.E., and Hansen, J.M. (2013) Glutathione redox dynamics and expression of glutathione-related genes in the developing embryo. Free radical biology & medicine. 65:89-101
- 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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