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

Expression

All Expression Data

4 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With aspm Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
primary autosomal recessive microcephaly 5	Alliance	Microcephaly 5, primary, autosomal recessive	608716

Associated With aspm Via Experimental Models

Human Disease	Fish	Conditions	Citations
microcephaly	WT + MO2-aspm	standard conditions	Novorol et al., 2013

Gene Ontology

Protein Domains

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
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