Gene
ebp
- ID
- ZDB-GENE-040718-12
- Name
- EBP cholestenol delta-isomerase
- Symbol
- ebp Nomenclature History
- Previous Names
-
- zgc:91895 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable C-8 sterol isomerase activity and steroid Delta-isomerase activity. Predicted to be involved in cholesterol biosynthetic process. Predicted to act upstream of or within sterol biosynthetic process. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in MEND syndrome; X-linked chondrodysplasia punctata 2; and chondrodysplasia punctata. Orthologous to human EBP (EBP cholestenol delta-isomerase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Takada et al., 2017
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
MEND syndrome | Alliance | MEND syndrome | 300960 |
X-linked chondrodysplasia punctata 2 | Alliance | Chondrodysplasia punctata, X-linked dominant | 302960 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Emopamil-binding protein | EXPERA domain |
---|---|---|---|---|
UniProtKB:Q6DG98 | InterPro | 232 |
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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 | CH73-381F5 | ZFIN Curated Data | |
Encodes | cDNA | MGC:91895 | ZFIN Curated Data | |
Encodes | cDNA | MGC:191162 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001002328 (1) | 1395 nt | ||
Genomic | GenBank:CT573332 (2) | 86213 nt | ||
Polypeptide | UniProtKB:Q6DG98 (1) | 232 aa |
- Chen, P., Zhu, Z., Geng, H., Cui, X., Han, Y., Wang, L., Zhang, Y., Lu, H., Wang, X., Zhang, Y., Sun, C. (2024) Integrated spatial metabolomics and transcriptomics decipher the hepatoprotection mechanisms of wedelolactone and demethylwedelolactone on non-alcoholic fatty liver disease. Journal of pharmaceutical analysis. 14:100910100910
- Zhang, Z., Yang, C., Wang, Z., Guo, L., Xu, Y., Gao, C., Sun, Y., Zhang, Z., Peng, J., Hu, M., Jan Lo, L., Ma, Z., Chen, J. (2023) Wdr5-mediated H3K4me3 coordinately regulates cell differentiation, proliferation termination, and survival in digestive organogenesis. Cell death discovery. 9:227227
- Castillo-Castellanos, F., Ramírez, L., Lomelí, H. (2021) zmiz1a zebrafish mutants have defective erythropoiesis, altered expression of autophagy genes, and a deficient response to vitamin D. Life sciences. 284:119900
- Huang, S.S., Benskin, J.P., Veldhoen, N., Chandramouli, B., Butler, H., Helbing, C.C., Cosgrove, J.R. (2017) A multi-omic approach to elucidate low-dose effects of xenobiotics in zebrafish (Danio rerio) larvae. Aquatic toxicology (Amsterdam, Netherlands). 182:102-112
- Takada, N., Omae, M., Sagawa, F., Chi, N.C., Endo, S., Kozawa, S., Sato, T.N. (2017) Re-evaluating functional landscape of the cardiovascular system during development. Biology Open. 6(11):1756-1770
- 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
- 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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