Version 5.4
Homo sapiens Protein: DOCK6
Summary
InnateDB Protein IDBP-99366.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DOCK6
Protein Name dedicator of cytokinesis 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000294618
InnateDB Gene IDBG-28987 (DOCK6)
Protein Structure
UniProt Annotation
Function Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:17196961}. Cytoplasm, perinuclear region {ECO:0000269PubMed:17196961}. Note=Mainly located near the cell surface.
Disease Associations Adams-Oliver syndrome 2 (AOS2) [MIM:614219]: A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269PubMed:21820096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Expressed at low level in spleen, cerebellum, hippocampus and in substantia nigra. {ECO:0000269PubMed:10718198}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated
Total 23 [view]
Protein-Protein 23 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005085 guanyl-nucleotide exchange factor activity
Biological Process
GO:0007264 small GTPase mediated signal transduction
GO:0007596 blood coagulation
GO:0043547 positive regulation of GTPase activity
Cellular Component
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR010703 Dedicator of cytokinesis C-terminal
IPR021816 Dedicator of cytokinesis C/D, N-terminal
PFAM PF06920
PF11878
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96HP0
PhosphoSite PhosphoSite-Q96HP0
TrEMBL
UniProt Splice Variant
Entrez Gene 57572
UniGene Hs.591002
RefSeq NP_065863
HUGO HGNC:19189
OMIM 614194
CCDS CCDS45975
HPRD 13243
IMGT
EMBL AB037816 AC009000 AC011472 BC008335 BC051330 BC146786
GenPept AAH08335 AAH51330 AAI46787 BAA92633

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca