Gene
sec23a
- ID
- ZDB-GENE-040426-2823
- Name
- Sec23 homolog A, coat complex II component
- Symbol
- sec23a Nomenclature History
- Previous Names
-
- cru
- crusher
- wu:fc10f08
- wu:fi15g03
- zgc:55534
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activator activity and zinc ion binding activity. Acts upstream of or within pectoral fin morphogenesis; protein targeting; and skeletal system development. Predicted to be located in cytosol. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site. Is expressed in several structures, including cartilage element; hatching gland; notochord; polster; and tail bud. Used to study craniolenticulosutural dysplasia. Human ortholog(s) of this gene implicated in craniolenticulosutural dysplasia. Orthologous to human SEC23A (SEC23 homolog A, COPII coat complex component).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7159902 (19 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la019891Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la019892Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| m299 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa6460 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| uq22bh | Allele with one point mutation | Unknown | Unknown | ENU | |
| uq23bh | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sec23a | Chaudhury et al., 2020 | |
| MO1-sec23a | N/A | Boyadjiev et al., 2006 |
| MO2-sec23a | N/A | Boyadjiev et al., 2006 |
| MO3-sec23a | N/A | Lang et al., 2006 |
| MO4-sec23a | N/A | Lang et al., 2006 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| craniolenticulosutural dysplasia | Alliance | Craniolenticulosutural dysplasia | 607812 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| craniolenticulosutural dysplasia | sec23am299/m299 (AB) | standard conditions | Cox et al., 2017 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | ADF-H/Gelsolin-like domain superfamily | Gelsolin-like domain | Gelsolin-like domain superfamily | Protein transport protein Sec23 | Sec23, C-terminal | Sec23/Sec24 beta-sandwich | Sec23/Sec24, helical domain | Sec23/Sec24 helical domain superfamily | Sec23/Sec24, trunk domain | von Willebrand factor A-like domain superfamily | Zinc finger, Sec23/Sec24-type | Zinc finger, Sec23/Sec24-type superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:B2GSV7 | InterPro | 765 | ||||||||||||
| UniProtKB:Q7SZE5 | InterPro | 765 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sec23a-201
(1)
|
Ensembl | 5,564 nt | ||
| mRNA |
sec23a-202
(1)
|
Ensembl | 2,304 nt | ||
| mRNA |
sec23a-203
(1)
|
Ensembl | 3,150 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(-1.7col2a1a:sec23a-2A-EGFP) |
| 1 | Cox et al., 2017 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-71B9 | ZFIN Curated Data | |
| Encodes | EST | fc10f08 | ZFIN Curated Data | |
| Encodes | EST | fi15g03 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7159902 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:55534 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:113987 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192750 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213465 (1) | 5556 nt | ||
| Genomic | GenBank:BX088587 (2) | 154682 nt | ||
| Polypeptide | UniProtKB:B2GSV7 (1) | 765 aa |
- Guillemyn, B., De Saffel, H., Bek, J.W., Tapaneeyaphan, P., De Clercq, A., Jarayseh, T., Debaenst, S., Willaert, A., De Rycke, R., Byers, P.H., Rosseel, T., Coucke, P., Blaumeiser, B., Syx, D., Malfait, F., Symoens, S. (2023) Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 38(11):1718-1730
- Chaudhury, S., Okuda, K.S., Koltowska, K., Lagendijk, A.K., Paterson, S., Baillie, G.J., Simons, C., Smith, K.A., Hogan, B.M., Bower, N.I. (2020) Localised Collagen2a1 secretion supports lymphatic endothelial cell migration in the zebrafish embryo. Development (Cambridge, England). 147(18):
- Jia, S., Wu, X., Wu, Y., Cui, X., Tao, B., Zhu, Z., Hu, W. (2020) Multiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome. International journal of biological sciences. 16:3039-3049
- 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
- Cox, N.J., Unlu, G., Bisnett, B.J., Meister, T.R., Condon, B., Luo, P.M., Smith, T.J., Hanna, M., Chhetri, A., Soderblom, E.J., Audhya, A., Knapik, E.W., Boyce, M. (2017) Dynamic glycosylation governs the vertebrate COPII protein trafficking pathway. Biochemistry. 57(1):91-107
- Le Corre, S., Eyre, D., Drummond, I.A. (2014) Modulation of the Secretory Pathway Rescues Zebrafish Polycystic Kidney Disease Pathology. Journal of the American Society of Nephrology : JASN. 25(8):1749-59
- 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
- Melville, D.B., Montero-Balaguer, M., Levic, D.S., Bradley, K., Smith, J.R., Hatzopoulos, A.K., and Knapik, E.W. (2011) The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis. Disease models & mechanisms. 4(6):763-76
- Maddison, L.A., Lu, J., Victoroff, T., Scott, E., Baier, H., and Chen, W. (2009) A gain-of-function screen in zebrafish identifies a guanylate cyclase with a role in neuronal degeneration. Molecular genetics and genomics : MGG. 281(5):551-563
- 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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