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

Function

• regulation of cell proliferation
  • response to extracellular signals
  • mediated by an early endosomal compartment
• links Rab5 to nuclear signal transduction
• binds RAB5A leading to recruitment to endosomal membranes & role in cell proliferation
• 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

• chromosomal aberration involving DIP13B is associated with chromosome 22q13.3 deletion syndrome
  • translocation t(12;22)(q24.1;q13.3) with SHANK3

More general terms

• membrane protein
• nuclear protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55198
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:55198
• OMIM: https://mirror.omim.org/entry/606231
• UniProt: http://www.uniprot.org/uniprot/Q8NEU8.html