Gene
cad
- ID
- ZDB-GENE-021030-4
- Name
- carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
- Symbol
- cad Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable aspartate carbamoyltransferase activity and dihydroorotase activity. Predicted to contribute to carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity. Acts upstream of or within several processes, including 'de novo' pyrimidine nucleobase biosynthetic process; cranial nerve morphogenesis; and regulation of signal transduction. Predicted to be located in nucleus. Predicted to be active in cytosol. Is expressed in several structures, including digestive system; immature eye; nervous system; neural tube; and pectoral fin. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 50. Orthologous to human CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb456 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
a52 | Allele with one point mutation | Unknown | Missense | not specified | |
hi2694Tg | Transgenic insertion | Exon 1 | Unknown | DNA | |
hu10125 | Allele with one point mutation | Unknown | Missense | ENU | |
la013884Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la028268Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa9368 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa11882 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa23778 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa37121 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa37122 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-cad | N/A | Willer et al., 2005 |
MO2-cad | N/A | Willer et al., 2005 |
MO3-cad | N/A | (2) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental and epileptic encephalopathy 50 | Alliance | Developmental and epileptic encephalopathy 50 | 616457 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR002195 | Dihydroorotase, conserved site |
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 |
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Domain Details Per Protein
Protein | Additional Resources | Length | Amidohydrolase-related | Aspartate carbamoyltransferase | Aspartate/ornithine carbamoyltransferase | Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain | Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding | Aspartate/ornithine carbamoyltransferase superfamily | 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 | Dihydroorotase, conserved site | Glutamine amidotransferase | Metal-dependent hydrolase | Metal-dependent hydrolase, composite domain superfamily | Methylglyoxal synthase-like domain | Methylglyoxal synthase-like domain superfamily | Pre-ATP-grasp domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3AL15 | InterPro | 2256 | |||||||||||||||||||||||||
UniProtKB:A0A8M3B4B1 | InterPro | 2243 | |||||||||||||||||||||||||
UniProtKB:U3JAV8 | InterPro | 2230 | |||||||||||||||||||||||||
UniProtKB:A0A8M2B804 | InterPro | 2243 |
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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-221H15 | ZFIN Curated Data | |
Contains | SNP | rs3729043 | ZFIN Curated Data | |
Encodes | EST | cb456 | Thisse et al., 2001 | |
Encodes | EST | fc30c12 | Woods et al., 2000 | |
Encodes | EST | fc67g02 | ||
Has Artifact | cDNA | MGC:63627 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001308825 (1) | 7501 nt | ||
Genomic | GenBank:BX511178 (1) | 187362 nt | ||
Polypeptide | UniProtKB:A0A8M3AL15 (1) | 2256 aa |
- Kim, D., Lee, Y.R., Choi, T.I., Kim, S.H., Kang, H.C., Kim, C.H., Lee, S. (2021) Comparative Proteome Research in a Zebrafish Model for Vanishing White Matter Disease. International Journal of Molecular Sciences. 22(5):
- 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
- Aceto, J., Nourizadeh-Lillabadi, R., Marée, R., Dardenne, N., Jeanray, N., Wehenkel, L., Aleström, P., van Loon, J.J., Muller, M. (2015) Zebrafish Bone and General Physiology Are Differently Affected by Hormones or Changes in Gravity. PLoS One. 10:e0126928
- Coxam, B., Neyt, C., Grassini, D.R., Le Guen, L., Smith, K.A., Schulte-Merker, S., Hogan, B.M. (2015) carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (cad) regulates Notch signaling and vascular development in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 244(1):1-9
- 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
- Blackburn, J.S., Liu, S., Wilder, J.L., Dobrinski, K.P., Lobbardi, R., Moore, F.E., Martinez, S.A., Chen, E.Y., Lee, C., Langenau, D.M. (2014) Clonal evolution enhances leukemia-propagating cell frequency in T cell acute lymphoblastic leukemia through Akt/mTORC1 pathway activation. Cancer Cell. 25:366-78
- Cox, J.A., Lamora, A., Johnson, S.L., and Voigt, M.M. (2014) Novel role for carbamoyl phosphate synthetase 2 in cranial sensory circuit formation. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 33C:41-48
- Danilova, N., Bibikova, E., Covey, T.M., Nathanson, D., Dimitrova, E., Konto, Y., Lindgren, A., Glader, B., Radu, C.G., Sakamoto, K.M., Lin, S. (2014) The role of DNA damage response in zebrafish and cellular models of Diamond Blackfan Anemia. Disease models & mechanisms. 7(7):895-905
- French, C.R., Stach, T.R., March, L.D., Lehmann, O.J., and Waskiewicz, A.J. (2013) Apoptotic and proliferative defects characterize ocular development in a microphthalmic BMP model. Investigative ophthalmology & visual science. 54(7):4636-4647
- Lin, H.J., Lee, S.H., Wu, J.L., Duann, Y.F., and Chen, J.Y. (2013) Development of Cre-loxP technology in zebrafish to study the regulation of fish reproduction. Fish physiology and biochemistry. 39(6):1525-39
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