Homo sapiens Gene: ASPM
Summary
InnateDB Gene IDBG-105543.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASPM
Gene Name asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000066279
Encoded Proteins
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:197084128-197146694
Strand Reverse strand
Band q31.3
Transcripts
ENST00000367409 ENSP00000356379
ENST00000367408 ENSP00000356378
ENST00000294732 ENSP00000294732
ENST00000612785 ENSP00000479244
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
Biological Process
GO:0001764 neuron migration
GO:0002052 positive regulation of neuroblast proliferation
GO:0007067 mitotic nuclear division
GO:0007283 spermatogenesis
GO:0007420 brain development
GO:0021873 forebrain neuroblast division
GO:0045665 negative regulation of neuron differentiation
GO:0045769 negative regulation of asymmetric cell division
GO:0048477 oogenesis
GO:0048589 developmental growth
GO:0051661 maintenance of centrosome location
GO:0090263 positive regulation of canonical Wnt signaling pathway
Cellular Component
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030496 midbody
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001206846 NM_018136
HUGO
OMIM
CCDS CCDS1389 CCDS55672
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas