Gene
sgce
- ID
- ZDB-GENE-030724-1
- Name
- sarcoglycan, epsilon
- Symbol
- sgce Nomenclature History
- Previous Names
-
- zgc:92318
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Predicted to be located in several cellular components, including Golgi apparatus; dendrite; and sarcolemma. Predicted to be part of sarcoglycan complex. Is expressed in central nervous system; retina; retinal ganglion cell layer; and retinal inner nuclear layer. Human ortholog(s) of this gene implicated in myoclonic dystonia 11. Orthologous to human SGCE (sarcoglycan epsilon).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7150624 (11 images)
- IMAGE:6900114 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
myoclonic dystonia 11 | Alliance | Dystonia-11, myoclonic | 159900 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR006644 | Dystroglycan-type cadherin-like |
Domain | IPR048346 | Sarcoglycan alpha/epsilon, N-terminal domain |
Domain | IPR048347 | Sarcoglycan alpha/epsilon second domain |
Family | IPR008908 | Sarcoglycan alpha/epsilon |
Homologous_superfamily | IPR015919 | Cadherin-like superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | Cadherin-like superfamily | Dystroglycan-type cadherin-like | Sarcoglycan alpha/epsilon | Sarcoglycan alpha/epsilon, N-terminal domain | Sarcoglycan alpha/epsilon second domain |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9PAU2 | InterPro | 443 | |||||
UniProtKB:Q6DHH1 | InterPro | 414 | |||||
UniProtKB:A0A8M2B6H2 | InterPro | 438 | |||||
UniProtKB:A0A8M9P1Q4 | InterPro | 467 | |||||
UniProtKB:A0A8M6Z2W7 | InterPro | 458 |
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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-104M9 | ZFIN Curated Data | |
Contained in | BAC | RP71-57J15 | ZFIN Curated Data | |
Encodes | EST | IMAGE:6900114 | Thisse et al., 2004 | |
Encodes | EST | IMAGE:7150624 | Thisse et al., 2004 | |
Encodes | cDNA | MGC:92318 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001002594 (1) | 1671 nt | ||
Genomic | GenBank:BX510640 (2) | 139917 nt | ||
Polypeptide | UniProtKB:A0A8M9P1Q4 (1) | 467 aa |
- Giffen, K.P., Liu, H., Kramer, K.L., He, D.Z. (2019) Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. Frontiers in neuroscience. 13:1117
- 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
- Gistelinck, C., Gioia, R., Gagliardi, A., Tonelli, F., Marchese, L., Bianchi, L., Landi, C., Bini, L., Huysseune, A., Witten, P.E., Staes, A., Gevaert, K., De Rocker, N., Menten, B., Malfait, F., Leikin, S., Carra, S., Tenni, R., Rossi, A., De Paepe, A., Coucke, P., Willaert, A., Forlino, A. (2016) Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin. Scientific Reports. 6:21540
- 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
- Rodius, S., Nazarov, P.V., Nepomuceno-Chamorro, I.A., Jeanty, C., González-Rosa, J.M., Ibberson, M., da Costa, R.M., Xenarios, I., Mercader, N., Azuaje, F. (2014) Transcriptional response to cardiac injury in the zebrafish: systematic identification of genes with highly concordant activity across in vivo models. BMC Genomics. 15:852
- Steffen, L.S., Guyon, J.R., Vogel, E.D., Beltre, R., Pusack, T.J., Zhou, Y., Zon, L.I., and Kunkel, L.M. (2007) Zebrafish orthologs of human muscular dystrophy genes. BMC Genomics. 8(1):79
- Harden, M.V., Newton, L.A., Lloyd, R.C., Whitlock, K.E. (2006) Olfactory imprinting is correlated with changes in gene expression in the olfactory epithelia of the zebrafish. Journal of neurobiology. 66(13):1452-1466
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
- Chambers, S.P., Anderson, L.V., Maguire, G.M., Dodd, A., and Love, D.R. (2003) Sarcoglycans of the zebrafish: orthology and localization to the sarcolemma and myosepta of muscle. Biochemical and Biophysical Research Communications. 303(2):488-495
- 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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