APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1)

2003-02-01  

Identity

HGNC
LOCATION
3p14.3
LOCUSID
ALIAS
APPL,DIP13alpha,MODY14
FUSION GENES

Other Information

Locus ID:

NCBI: 26060
MIM: 604299
HGNC: 24035
Ensembl: ENSG00000157500

Variants:

dbSNP: 26060
ClinVar: 26060
TCGA: ENSG00000157500
COSMIC: APPL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157500ENST00000288266Q9UKG1
ENSG00000157500ENST00000444459C9JAB0
ENSG00000157500ENST00000495803C9K0C4
ENSG00000157500ENST00000650354Q9UKG1

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Colorectal cancerKEGGko05210
Pathways in cancerKEGGhsa05200
Colorectal cancerKEGGhsa05210
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Caspase activation via extrinsic apoptotic signalling pathwayREACTOMER-HSA-5357769
Ligand-independent caspase activation via DCCREACTOMER-HSA-418889
Longevity regulating pathwayKEGGhsa04211

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150163782004APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment.202
166224162006APPL1 binds to adiponectin receptors and mediates adiponectin signalling and function.202
172874642007Adiponectin-induced endothelial nitric oxide synthase activation and nitric oxide production are mediated by APPL1 in endothelial cells.90
195208432009Adiponectin activates AMP-activated protein kinase in muscle cells via APPL1/LKB1-dependent and phospholipase C/Ca2+/Ca2+/calmodulin-dependent protein kinase kinase-dependent pathways.68
175816282007Structure of the APPL1 BAR-PH domain and characterization of its interaction with Rab5.61
178485692007The interaction of Akt with APPL1 is required for insulin-stimulated Glut4 translocation.55
261941812016Evidence that the rab5 effector APPL1 mediates APP-βCTF-induced dysfunction of endosomes in Down syndrome and Alzheimer's disease.55
186326602008Adiponectin blocks interleukin-18-mediated endothelial cell death via APPL1-dependent AMP-activated protein kinase (AMPK) activation and IKK/NF-kappaB/PTEN suppression.46
150708272004Human follicle-stimulating hormone (FSH) receptor interacts with the adaptor protein APPL1 in HEK 293 cells: potential involvement of the PI3K pathway in FSH signaling.35
248138962014APPL1 potentiates insulin sensitivity by facilitating the binding of IRS1/2 to the insulin receptor.35

Citation

Dessen P

APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/680/appl1