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 microcephaly; primary autosomal recessive microcephaly; primary autosomal recessive microcephaly 5; and visual epilepsy. 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
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| microcephaly | WT + MO2-aspm | standard conditions | Novorol et al., 2013 |
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 |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
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 |
Interactions and Pathways
No data available
Plasmids
No data available