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 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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