dedicator of cytokinesis protein 8 (DOCK8)

Function: - guanine nucleotide exchange factor (GEF) (putative) Structure: - the DHR-2 domain may mediate some GEF activity - belongs to the DOCK family - contains 1 DHR-1 (CZH-1) domain - contains 1 DHR-2 (CZH-2) domain Alternative splicing: named isoforms=3 Pathology: - defects in DOCK8 are the cause - hyper IgE recurrent infection syndrome autosomal recessive (AR-HIES) - mental retardation autosomal dominant type 2 - chromosomal translocation t(X;9) (q13.1;p24) disrupting DOCK8 has been found in a patient with mental retardation & ectodermal dysplasia

General

dedicator of cytokinesis protein (DOCK) human longevity protein phosphoprotein

Properties

SIZE: entity length = 2099 aa MW = 239 kD COMPARTMENT: cytoplasm MOTIF: DHR-1 {328-570} MOTIF: Ser phosphorylation site {S451} DHR-2 {1302-1823}

Database Correlations

OMIM correlations MORBIDMAP 611432 UniProt Q8NF50 PFAM correlations Entrez Gene 81704 Kegg hsa:81704

References

UniProt :accession Q8NF50