ASPM Gene Summary [Human]
This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
Details
| Type | Retained Intron |
| Official Symbol | ASPM |
| Official Name | assembly factor for spindle microtubules [Source:HGNC Symbol;Acc:HGNC:19048] |
| Ensembl ID | ENSG00000066279 |
| Bio databases IDs | |
| Aliases | assembly factor for spindle microtubules |
| Synonyms | abnormal spindle microtubule assembly, ASP, assembly factor for spindle microtubules, CALMBP1, D330028K02Rik, FLJ10517, FLJ10517 FIS, FLJ12505 FIS, MCPH5, Sha1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ASPM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Transmembrane protein 131-like N-terminal
- IQ (isoleucine-glutamine) motif containing G and D (IQCG and IQCD)
- Calponin homology domain
- calmodulin binding
- calponin homology (CH) domain superfamily
- Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- liver cancer
- epithelial cancer
- epithelial neoplasia
- non-small cell lung carcinoma
- diffuse large B-cell lymphoma
- autosomal recessive primary microcephaly type 5
- non-small cell lung cancer
- hepatocellular carcinoma
- gastric adenocarcinoma
role in cell
- number
- replication in
- phosphorylation in
- cell division
- quantity
- migration
- proliferation
- invasion by
- differentiation
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- centrosome
- microtubules
- midbody
- apical membrane
- spindle pole
- meiotic spindles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASPM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- spindle organization
- male gonad development
- spermatogenesis
- negative regulation of neuron differentiation
- positive regulation of canonical Wnt receptor signaling pathway
- positive regulation of neuroblast proliferation
- asymmetric cell division
- cerebral cortex development
- developmental growth
- negative regulation of asymmetric cell division
- neuronal stem cell maintenance
- forebrain neuroblast division
- spindle localization
- regulation of meiotic cell cycle
- neuron migration
- maintenance of centrosome location
- oogenesis
- spindle assembly involved in meiosis
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- cytoplasm
- meiotic spindle
- midbody
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- calmodulin binding