Gene
aspm
- ID
- ZDB-GENE-050208-620
- Name
- assembly factor for spindle microtubules
- Symbol
- aspm Nomenclature History
- Previous Names
-
- fc13b04
- si:dkey-114d20.4
- wu:fc13b04
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable calmodulin binding activity. Acts upstream of or within mitotic cell cycle. Predicted to be located in cytoplasm and nucleus. Predicted to be active in spindle pole. Is expressed in digestive system; nervous system; optic cup; otic vesicle; and pectoral fin bud. Used to study microcephaly. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly and primary autosomal recessive microcephaly 5. Orthologous to human ASPM (assembly factor for spindle microtubules).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 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 |
|---|---|---|---|---|---|
| la014203Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa447 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa1008 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa5003 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa6712 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9075 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa11648 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12763 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13529 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17838 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 10 of 22
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-aspm | N/A | Kim et al., 2011 |
| MO2-aspm | N/A | Novorol et al., 2013 |
| TALEN1-aspm | Duerinckx et al., 2019 |
1 - 3 of 3
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary autosomal recessive microcephaly 5 | Alliance | Microcephaly 5, primary, autosomal recessive | 608716 |
1 - 1 of 1
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| microcephaly | WT + MO2-aspm | standard conditions | Novorol et al., 2013 |
1 - 1 of 1
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR000048 | IQ motif, EF-hand binding site |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR031549 | Abnormal spindle-like microcephaly-associated protein, ASH domain |
| Family | IPR051185 | Abnormal Spindle-like Microcephaly-associated |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
1 - 5 of 8 Show all
Domain Details Per Protein
| Protein | Length | Abnormal Spindle-like Microcephaly-associated | Abnormal spindle-like microcephaly-associated protein, ASH domain | Armadillo-type fold | Calponin homology domain | CH domain superfamily | Immunoglobulin-like fold | IQ motif, EF-hand binding site | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4INR1
|
3391 | ||||||||
|
UniProtKB:A0A8M2B8W4
|
3411 |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-114D20 | ZFIN Curated Data | |
| Encodes | EST | fc13b04 |
1 - 2 of 2
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001123373 (1) | 10507 nt | ||
| Genomic | GenBank:CR628370 (1) | 190967 nt | ||
| Polypeptide | UniProtKB:A0A8M2B8W4 (1) | 3411 aa |
- Xu, B., Tang, X., Jin, M., Zhang, H., Du, L., Yu, S., He, J. (2020) Unifying Developmental Programs for Embryonic and Post-Embryonic Neurogenesis in the Zebrafish Retina. Development (Cambridge, England). 147(12):
- Duerinckx, S., Jacquemin, V., Drunat, S., Vial, Y., Passemard, S., Perazzolo, C., Massart, A., Soblet, J., Racapé, J., Desmyter, L., Badoer, C., Papadimitriou, S., Borgne, Y.L., Lefort, A., Libert, F., Maertelaer, V., Rooman, M., Costagliola, S., Verloes, A., Lenaerts, T., Pirson, I., Abramowicz, M. (2019) Digenic inheritance of human primary microcephaly delineates centrosomal and non centrosomal pathways. Human Mutation. 41(2):512-524
- Yao, L., Chen, J., Wu, X., Jia, S., Meng, A. (2017) Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype. Human molecular genetics. 26(21):4168-4180
- Novorol, C., Burkhardt, J., Wood, K.J., Iqbal, A., Roque, C., Coutts, N., Almeida, A.D., He, J., Wilkinson, C.J., and Harris, W.A. (2013) Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression. Open Biology. 3(10):130065
- 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
- Kim, H.T., Lee, M.S., Choi, J.H., Jung, J.Y., Ahn, D.G., Yeo, S.Y., Choi, D.K., and Kim, C.H. (2011) The microcephaly gene aspm is involved in brain development in zebrafish. Biochemical and Biophysical Research Communications. 409(4):640-4
- Kleinschmidt, M.A., Wagner, T.U., Liedtke, D., Spahr, S., Samans, B., and Gaubatz, S. (2009) Lin9 is required for mitosis and cell survival during early zebrafish development. The Journal of biological chemistry. 284(19):13119-13127
- 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
- Eckfeldt, C.E., Mendenhall, E.M., Flynn, C.M., Wang, T.F., Pickart, M.A., Grindle, S.M., Ekker, S.C., and Verfaillie, C.M. (2005) Functional analysis of human hematopoietic stem cell gene expression using zebrafish. PLoS Biology. 3(8):e254
1 - 9 of 9
Show