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. Predicted to localize to cytoplasm and nucleus. 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
Expression
All Expression Data
4 figures from 4 publications
Cross-Species Comparison
High Throughput 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
Family IPR029955 Abnormal spindle-like microcephaly-associated protein
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 protein 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:Q4V9N6 573
UniProtKB:Q4VDA9 186
UniProtKB:Q4U2W0 174
UniProtKB:Q4U2W1 115
UniProtKB:A0A0R4INR1 3391
UniProtKB:Q1JQ46 573
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations