InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ASPM

Summary

InnateDB Protein

IDBP-105551.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ASPM

Protein Name

asp (abnormal spindle) homolog, microcephaly associated (Drosophila)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000294732

InnateDB Gene

IDBG-105543 (ASPM)

Protein Structure

UniProt Annotation

Function

Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis. {ECO:0000269PubMed:12355089, ECO:0000269PubMed:15972725}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000269PubMed:15972725}. Nucleus {ECO:0000250}. Note=The nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin (By similarity). Localizes to spindle poles during mitosis. {ECO:0000250}.

Disease Associations

Microcephaly 5, primary, autosomal recessive (MCPH5) [MIM:608716]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269PubMed:12355089, ECO:0000269PubMed:14574646}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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:0007067

mitotic nuclear division

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR000048 IQ motif, EF-hand binding site
IPR001715 Calponin homology domain
IPR016024 Armadillo-type fold
IPR022613 Calmodulin-regulated spectrin-associated protein, CH domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00612
PF00307
PF11971

PRINTS

PIRSF

SMART

SM00015
SM00033

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8IZT6