background:
The APPL family of proteins are involved in linking, trafficking and signaling downstream of tyrosine kinase receptors. APPL1, also designated adaptor protein containing pH domain, PTB domain and leucine zipper motif 1; APPL; or DCC interacting protein 13å (DIP13å), and APPL2, also designated adaptor protein containing pH domain, PTB domain and leucine zipper motif 2 or DCC interacting protein 13∫ (DIP13∫), are involved in the coupling of epidermal growth factor (EGF) signaling and chromatin remodeling in the nucleus. They associate with GTPase Rab 5 and are released from the plasma membrane and translocated to the nucleus. In the nucleus, APPL1 and APPL2 associate with NuRD/MeCP1 and are essential for cell growth and proliferation. APPL2 also associates with follicle stimulating hormone receptor (FSHR). APPL2 is highly expressed in heart, brain, skeletal muscle, and kidney. APPL2 shares 54% homology with APPL1
Function:
Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction.
Subcellular Location:
Early endosome membrane. Nucleus. Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF.
Tissue Specificity:
High levels in brain, heart, kidney and skeletal muscle.
DISEASE:
Note=A chromosomal aberration involving APPL2/DIP13B is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2.
Similarity:
Contains 1 PH domain.
Contains 1 PID domain.
Database links:
Entrez Gene: 55198 Human
Entrez Gene: 216190 Mouse
Entrez Gene: 362860 Rat
Omim: 606231 Human
SwissProt: Q8NEU8 Human
SwissProt: Q8K3G9 Mouse
Unigene: 506603 Human
Unigene: 282985 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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