Gene
stil
- ID
- ZDB-GENE-020419-39
- Name
- STIL centriolar assembly protein
- Symbol
- stil Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including neuron cellular homeostasis; smoothened signaling pathway; and spindle organization. Predicted to be located in centriole. Predicted to be active in microtubule organizing center. Is expressed in several structures, including gut; heart; nervous system; optic cup; and pronephros. Used to study microcephaly. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 7. Orthologous to human STIL (STIL centriolar assembly protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| cz65 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| cz299 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| da15 | Allele with one point mutation | Donor Splice Site | Splice Site | ENU | |
| hi1262Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| sa14967 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24122 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa29746 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-stil | N/A | Pfaff et al., 2007 |
| MO2-stil | N/A | Pfaff et al., 2007 |
| MO3-stil | N/A | Li et al., 2013 |
| MO4-stil | N/A | Novorol et al., 2013 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary autosomal recessive microcephaly 7 | Alliance | Microcephaly 7, primary, autosomal recessive | 612703 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| microcephaly | WT + MO4-stil | standard conditions | Novorol et al., 2013 |
| microcephaly | stilhi1262Tg/hi1262Tg | standard conditions | Novorol et al., 2013 |
| microcephaly | stilcz65/cz65 | standard conditions | Novorol et al., 2013 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR026123 | SCL-interrupting locus protein |
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Domain Details Per Protein
| Protein | Additional Resources | Length | SCL-interrupting locus protein |
|---|---|---|---|
| UniProtKB:A0A8M6Z3C1 | InterPro | 1016 | |
| UniProtKB:Q8JGS1 | InterPro PDB | 1263 |
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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-192M14 | ZFIN Curated Data | |
| Encodes | STS | chunp6907 | ||
| Encodes | cDNA | MGC:110502 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191758 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_173244 (1) | 4911 nt | ||
| Genomic | GenBank:BX908392 (1) | 179577 nt | ||
| Polypeptide | UniProtKB:Q8JGS1 (1) | 1263 aa |
- Li, X., Yang, S., Zhang, X., Zhang, Y., Zhang, Y., Li, H. (2024) Bioinformatic Analysis of Roquin Family Reveals Their Potential Role in Immune System. International Journal of Molecular Sciences. 25(11):
- Mikdache, A., Boueid, M.J., Lesport, E., Delespierre, B., Loisel-Duwattez, J., Degerny, C., Tawk, M. (2022) Timely Schwann cell division drives peripheral myelination in vivo via Laminin/cAMP pathway. Development (Cambridge, England). 149(17)
- Hu, M., Liu, P., Lu, S., Wang, Z., Lyu, Z., Liu, H., Sun, Y., Liu, F., Tian, J. (2021) Myocardial protective effect and transcriptome profiling of Naoxintong on cardiomyopathy in zebrafish. Chinese Medicine. 16:119
- Xia, J., Kang, Z., Xue, Y., Ding, Y., Gao, S., Zhang, Y., Lv, P., Wang, X., Ma, D., Wang, L., Han, J.J., Liu, F. (2021) A single-cell resolution developmental atlas of hematopoietic stem and progenitor cell expansion in zebrafish. Proceedings of the National Academy of Sciences of the United States of America. 118(14):
- Lu, S., Hu, M., Wang, Z., Liu, H., Kou, Y., Lyu, Z., Tian, J. (2020) Generation and Application of the Zebrafish heg1 Mutant as a Cardiovascular Disease Model. Biomolecules. 10(11):
- Li, L., Wojtowicz, J.L., Malin, J.H., Huang, T., Lee, E.B., Chen, Z. (2017) GnRH-mediated olfactory and visual inputs promote mating-like behaviors in male zebrafish. PLoS One. 12:e0174143
- Xue, Y., Lv, J., Zhang, C., Wang, L., Ma, D., Liu, F. (2017) The Vascular Niche Regulates Hematopoietic Stem and Progenitor Cell Lodgment and Expansion via klf6a-ccl25b. Developmental Cell. 42(4):349-362.e4
- Sun, L., Li, P., Carr, A.L., Gorsuch, R., Yarka, C., Li, J., Bartlett, M., Pfister, D., Hyde, D.R., and Li, L. (2014) Transcription of the SCL/TAL1 interrupting locus (Stil) is required for cell proliferation in adult zebrafish retinas. The Journal of biological chemistry. 289(10):6934-40
- Cottee, M.A., Muschalik, N., Wong, Y.L., Johnson, C.M., Johnson, S., Andreeva, A., Oegema, K., Lea, S.M., Raff, J.W., and van Breugel, M. (2013) Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly. eLIFE. 2:e01071
- Hatzopoulos, G.N., Erat, M.C., Cutts, E., Rogala, K.B., Slater, L.M., Stansfeld, P.J., Vakonakis, I. (2013) Structural analysis of the G-box domain of the microcephaly protein CPAP suggests a role in centriole architecture. Structure (London, England : 1993). 21:2069-77
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