DCC-interacting protein 13 beta; Dip13 beta; adapter protein containing PH domain; PTB domain & leucine zipper motif 2 (DIP13B, APPL2)

Function: 1) regulation of cell proliferation a) response to extracellular signals b) mediated by an early endosomal compartment 2) links Rab5 to nuclear signal transduction 3) binds RAB5A leading to recruitment to endosomal membranes & role in cell proliferation 4) binds subunits of the NuRD/MeCP1 complex Structure: - contains 1 PH domain - contains 1 PID domain Compartment: - early endosomal membrane, peripheral membrane, nucleus - translocation into the nucleus upon release from endosomal membranes following internalization of EGF Expression: - expressed in high levels in brain, heart, kidney, skeletal muscle Pathology: 1) chromosomal aberration involving DIP13B is associated with chromosome 22q13.3 deletion syndrome - translocation t(12;22)(q24.1;q13.3) with SHANK3

General

membrane protein nuclear protein

Properties

SIZE: MW = 75 kD entity length = 664 aa COMPARTMENT: cell nucleus endosome MOTIF: binding site SITE: 1-428 FOR-BINDING-OF: rab5a proto-oncogene protein MOTIF: breakpoint {234-235} PH domain {277-375} phosphotyrosine interaction domain NAME: phosphotyrosine interaction domain SITE: 488-637

Database Correlations

OMIM 606231 UniProt Q8NEU8 PFAM correlations Entrez Gene 55198 Kegg hsa:55198

References

UniProt :accession Q8NEU8