ASPM (gene)

ASPM
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5LB7
Identifiers
Aliases	ASPM, ASP, Calmbp1, MCPH5, abnormal spindle microtubule assembly, assembly factor for spindle microtubules
External IDs	OMIM: 605481; MGI: 1334448; HomoloGene: 7650; GeneCards: ASPM; OMA:ASPM - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	197,146,694 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	139,421,829 bp
RNA expression pattern
	Top expressed in
	oocyte; ; ventricular zone; ; secondary oocyte; ; trabecular bone; ; gonad; ; buccal mucosa cell; ; embryo; ; testicle; ; ganglionic eminence; ; bone marrow;
	Top expressed in
	primary oocyte; ; zygote; ; secondary oocyte; ; genital tubercle; ; maxillary prominence; ; mandibular prominence; ; medial ganglionic eminence; ; vas deferens; ; atrium; ; condyle;
	More reference expression data
	n/a
Gene ontology
Molecular function	calmodulin binding; protein kinase binding; protein binding;
Cellular component	cytoplasm; mitotic spindle pole; spindle pole; meiotic spindle; spindle; midbody; microtubule; cytoskeleton; nucleus; microtubule minus-end; centrosome; apical plasma membrane;
Biological process	positive regulation of neuroblast proliferation; maintenance of centrosome location; male gonad development; negative regulation of neuron differentiation; forebrain neuroblast division; positive regulation of canonical Wnt signaling pathway; regulation of meiotic cell cycle; neuron migration; oogenesis; neuronal stem cell population maintenance; cell division; brain development; spindle organization; developmental growth; spermatogenesis; negative regulation of asymmetric cell division; cerebral cortex development; cell cycle; spindle localization; meiotic spindle assembly;
	Sources:Amigo / QuickGO
Orthologs
	259266
	12316
	ENSG00000066279
	ENSMUSG00000033952
	Q8IZT6
	Q8CJ27
	NM_018136; NM_001206846
	NM_009791
	NP_001193775; NP_060606
	NP_033921
	Wikidata
View/Edit Human	View/Edit Mouse

Abnormal spindle-like microcephaly-associated protein, also known as abnormal spindle protein homolog or Asp homolog, is a protein that in humans is encoded by the ASPM gene. ASPM is located on chromosome 1, band q31 (1q31). The ASPM gene contains 28 exons and codes for a 3477 amino-acid-long protein. The ASPM protein is conserved across species including human, mouse, Drosophila, and C. elegans. Defective forms of the ASPM gene are associated with autosomal recessive primary microcephaly.

"ASPM" is an acronym for "Abnormal Spindle-like, Microcephaly-associated", which reflects its being an ortholog to the Drosophila melanogaster "abnormal spindle" (asp) gene. The expressed protein product of the asp gene is essential for normal mitotic spindle function in embryonic neuroblasts and regulation of neurogenesis.

A new allele of ASPM arose sometime in the past 14,000 years (mean estimate 5,800 years), during the Holocene, it seems to have swept through much of the European and Middle-Eastern population. Although the new allele is evidently beneficial, researchers do not know what it does.