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
- Involved in mitotic cell cycle. 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. Is expressed in digestive system; nervous system; optic cup; otic vesicle; and pectoral fin bud. 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