Gene
cps1
- ID
- ZDB-GENE-081105-17
- Name
- carbamoyl-phosphate synthase 1, mitochondrial
- Symbol
- cps1 Nomenclature History
- Previous Names
-
- CPSIII (1)
- si:dkey-225d17.3
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Exhibits carbamoyl-phosphate synthase (ammonia) activity. Predicted to contribute to carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity. Involved in ammonia homeostasis and urea cycle. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in carbamoyl phosphate synthetase I deficiency disease; persistent fetal circulation syndrome; and vascular disease. Is expressed in ball; brain; liver; and muscle. Orthologous to human CPS1 (carbamoyl-phosphate synthase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Lemoine et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la026976Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa7635 | Allele with one point mutation | Unknown | Missense | ENU | |
sa10807 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa18960 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa34714 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa41493 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa44709 | Allele with one point mutation | Unknown | Unknown | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
carbamoyl phosphate synthetase I deficiency disease | Alliance | Carbamoylphosphate synthetase I deficiency | 237300 |
{Pulmonary hypertension, neonatal, susceptibility to} | 615371 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR002474 | Carbamoyl-phosphate synthase small subunit, N-terminal domain |
Domain | IPR005479 | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain |
Domain | IPR005480 | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain |
Domain | IPR005483 | Carbamoyl-phosphate synthase large subunit, CPSase domain |
Domain | IPR011607 | Methylglyoxal synthase-like domain |
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Domain Details Per Protein
Protein | Length | ATP-grasp fold | ATP-grasp fold, subdomain 1 | Carbamoyl-phosphate synthase, large subunit | Carbamoyl-phosphate synthase large subunit, CPSase domain | Carbamoyl-phosphate synthase, small subunit | Carbamoyl-phosphate synthase small subunit, GATase1 domain | Carbamoyl-phosphate synthase small subunit, N-terminal domain | Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily | Class I glutamine amidotransferase-like | Glutamine amidotransferase | Methylglyoxal synthase-like domain | Methylglyoxal synthase-like domain superfamily | Pre-ATP-grasp domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8N7TAJ3
|
1508 | ||||||||||||||||
UniProtKB:A0A8M6Z2T2
|
1069 |
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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 | DKEY-225D17 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_678190 (1) | 4764 nt | ||
Genomic | GenBank:CR812481 (1) | 233576 nt | ||
Polypeptide | UniProtKB:A0A8N7TAJ3 (1) | 1508 aa |
- Caldovic, L., Haskins, N., Mumo, A., Majumdar, H., Pinter, M., Tuchman, M., and Krufka, A. (2014) Expression pattern and biochemical properties of zebrafish N-acetylglutamate synthase. PLoS One. 9(1):e85597-e85597
- Amemiya, C.T., Alfoldi, J., Lee, A.P., Fan, S., Philippe, H., MacCallum, I., Braasch, I., Manousaki, T., Schneider, I., Rohner, N., Organ, C., Chalopin, D., Smith, J.J., Robinson, M., Dorrington, R.A., Gerdol, M., Aken, B., Biscotti, M.A., Barucca, M., Baurain, D., Berlin, A.M., Blatch, G.L., Buonocore, F., Burmester, T., Campbell, M.S., Canapa, A., Cannon, J.P., Christoffels, A., de Moro, G., Edkins, A.L., Fan, L., Fausto, A.M., Feiner, N., Forconi, M., Gamieldien, J., Gnerre, S., Gnirke, A., Goldstone, J.V., Haerty, W., Hahn, M.E., Hesse, U., Hoffmann, S., Johnson, J., Karchner, S.I., Karaku, S., Lara, M., Levin, J.Z., Litman, G.W., Mauceli, E., Miyake, T., Mueller, M.G., Nelson, D.R., Nitsche, A., Olmo, E., Ota, T., Pallavicini, A., Panji, S., Picone, B., Ponting, C.P., Prohaska, S.J., Przybylski, D., Saha, N.R., Ravi, V., Ribeiro, F.J., Sauka-Spengler, T., Scapigliati, G., Searle, S.M.J., Sharpe, T., Simakov, O., Stadler, P.F., Stegeman, J.J., Sumiyama, K., Tabbaa, D., Tafer, H., Turner-Maier, J., van Heusden, P., White, S., Williams, L., Yandell, M., Brinkmann, H., Volff, J.N., Tabin, C.J., Shubin, N., Schartl, M., Jaffe, D.B., Postlethwait, J.H., Venkatesh, B., Palma, F.D., Lander, E.S., Meyer, A., and Lindblad-Toh, K. (2013) The African coelacanth genome provides insights into tetrapod evolution. Nature. 496:311-316
- Lemoine, C.M., and Walsh, P.J. (2013) Ontogeny of ornithine-urea cycle gene expression in zebrafish (Danio rerio). American journal of physiology. Regulatory, integrative and comparative physiology. 304(11):R991-R1000
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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