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
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
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:Q1JQ46 573
UniProtKB:Q4U2W0 174
UniProtKB:Q4VDA9 186
UniProtKB:A0A0R4INR1 3391
UniProtKB:Q4V9N6 573
UniProtKB:Q4U2W1 115
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations