InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DOCK3

Summary

InnateDB Protein

IDBP-37294.6

Last Modified

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

Gene Symbol

DOCK3

Protein Name

dedicator of cytokinesis 3

Synonyms

MOCA; PBP;

Species

Homo sapiens

Ensembl Protein

ENSP00000266037

InnateDB Gene

IDBG-37292 (DOCK3)

Protein Structure

UniProt Annotation

Function

Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of beta-amyloid APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm {ECO:0000250}.

Disease Associations

Note=A chromosomal aberration involving DOCK3 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9.

Tissue Specificity

In normal brains, it is localized in the neuropil, and occasionally in the pyramidal cells, while in Alzheimer disease brains, it is associated with neurofibrillary tangles. {ECO:0000269PubMed:11696419}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.