Homo sapiens Protein: APPL2
Summary
InnateDB Protein IDBP-54654.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APPL2
Protein Name adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000258530
InnateDB Gene IDBG-54652 (APPL2)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:15016378}.
Subcellular Localization Early endosome membrane {ECO:0000269PubMed:15016378}; Peripheral membrane protein {ECO:0000269PubMed:15016378}. Nucleus {ECO:0000269PubMed:15016378}. Note=Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF.
Disease Associations 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.
Tissue Specificity High levels in brain, heart, kidney and skeletal muscle. {ECO:0000269PubMed:11431708}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007049 cell cycle
GO:0007165 signal transduction
GO:0008283 cell proliferation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0010008 endosome membrane
GO:0016581 NuRD complex
GO:0031901 early endosome membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001849 Pleckstrin homology domain
IPR006020 PTB/PI domain
IPR013625 Tensin phosphotyrosine-binding domain
PFAM PF00169
PF00640
PF14719
PF08416
PRINTS
PIRSF
SMART SM00233
SM00462
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8NEU8
PhosphoSite PhosphoSite-Q8NEU8
TrEMBL F8W124
UniProt Splice Variant
Entrez Gene 55198
UniGene
RefSeq NP_060641
HUGO HGNC:18242
OMIM 606231
CCDS CCDS9101
HPRD 06945
IMGT
EMBL AC016257 AC078874 AK001521 AK296610 AK297100 AY113704 BC033731
GenPept AAH33731 AAM55530 BAH12397 BAH12496