dedicator of cytokinesis protein 6 (DOCK6, KIAA1395)

Function

• acts as guanine nucleotide exchange factor (GEF) for CDC42 & RAC1 small GTPases
• may regulate neurite outgrowth via activation of CDC42 & RAC1

Structure

• the DHR-2 domain may mediate some GEF activity
• belongs to the DOCK family
• contains 1 DHR-1 domain
• contains 1 DHR-2 domain

Compartment

• cytoplasm, perinuclear region
• mainly located near the cell surface

Expression

• widely expressed
• expressed at low level in spleen, cerebellum, hippocampus, substantia nigra

Pathology

• defects in DOCK6 are the cause of Adams-Oliver syndrome type 2

More general terms

• dedicator of cytokinesis protein (DOCK)
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=57572
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:57572
• OMIM: https://mirror.omim.org/entry/614194
• OMIM: https://mirror.omim.org/entry/614219
• UniProt: http://www.uniprot.org/uniprot/Q96HP0.html