Gene
sass6
- ID
- ZDB-GENE-040426-2784
- Name
- SAS-6 centriolar assembly protein
- Symbol
- sass6 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including embryonic cleavage; microtubule cytoskeleton organization; and spermatogenesis. Located in centrosome. Is expressed in blastomere and unfertilized egg. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 14. Orthologous to human SASS6 (SAS-6 centriolar assembly protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| p37mfa | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa5967 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa43780 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45755 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary autosomal recessive microcephaly 14 | Alliance | Microcephaly 14, primary, autosomal recessive | 616402 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | SAS-6 coiled-coil domain | SAS-6, N-terminal domain superfamily | Spindle assembly abnormal protein 6, N-terminal |
|---|---|---|---|---|---|
| UniProtKB:A0A8M3AM46 | InterPro | 593 | |||
| UniProtKB:A0A8M2BL83 | InterPro | 639 | |||
| UniProtKB:B2GRL0 | InterPro | 627 | |||
| UniProtKB:Q7ZVT3 | InterPro PDB | 627 | |||
| UniProtKB:A0AB32T904 | InterPro | 638 |
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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 | CH211-231A1 | ZFIN Curated Data | |
| Encodes | EST | fb98c12 | ||
| Encodes | cDNA | MGC:55668 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193029 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213438 (1) | 3169 nt | ||
| Genomic | GenBank:BX908398 (1) | 118923 nt | ||
| Polypeptide | UniProtKB:A0A8M2BL83 (1) | 639 aa |
- Lv, Y., Li, J., Yu, S., Zhang, Y., Hu, H., Sun, K., Jia, D., Han, Y., Tu, J., Huang, Y., Liu, X., Zhang, X., Gao, P., Chen, X., Shaw Williams, M.T., Tang, Z., Shu, X., Liu, M., Ren, X. (2024) The splicing factor Prpf31 is required for hematopoietic stem and progenitor cell expansion during zebrafish embryogenesis. The Journal of biological chemistry. 300(3):105772
- 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
- Swartz, M.E., Wells, M.B., Griffin, M., McCarthy, N., Lovely, C.B., McGurk, P., Rozacky, J., and Eberhart, J.K. (2014) A Screen of Zebrafish Mutants Identifies Ethanol-Sensitive Genetic Loci. Alcoholism, clinical and experimental research. 38(3):694-703
- Nair, S., Lindeman, R.E., and Pelegri, F. (2013) In vitro oocyte culture-based manipulation of zebrafish maternal genes. Developmental Dynamics : an official publication of the American Association of Anatomists. 242(1):44-52
- Chu, L.T., Fong, S.H., Kondrychyn, I., Loh, S.L., Ye, Z., and Korzh, V. (2012) Yolk syncytial layer formation is a failure of cytokinesis mediated by Rock1 function in the early zebrafish embryo. Biology Open. 1(8):747-753
- Ramachandran, R., Zhao, X.F., and Goldman, D. (2012) Insm1a-mediated gene repression is essential for the formation and differentiation of Müller glia-derived progenitors in the injured retina. Nature cell biology. 14(10):1013-1023
- van Breugel, M., Hirono, M., Andreeva, A., Yanagisawa, H.A., Yamaguchi, S., Nakazawa, Y., Morgner, N., Petrovich, M., Ebong, I.O., Robinson, C.V., Johnson, C.M., Veprintsev, D., and Zuber, B. (2011) Structures of SAS-6 Suggest Its Organization in Centrioles. Science (New York, N.Y.). 331(6021):1196-1199
- Pfaff, K.L., Straub, C.T., Chiang, K., Bear, D.M., Zhou, Y., and Zon, L.I. (2007) The Zebra fish cassiopeia Mutant Reveals that SIL Is Required for Mitotic Spindle Organization. Molecular and cellular biology. 27(16):5887-5897
- Yabe, T., Ge, X., and Pelegri, F. (2007) The zebrafish maternal-effect gene cellular atoll encodes the centriolar component sas-6 and defects in its paternal function promote whole genome duplication. Developmental Biology. 312(1):44-60
- 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
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