Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
26060 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
APPL1 |
SynonymsGene synonyms aliases
|
APPL, DIP13alpha, MODY14 |
ChromosomeChromosome number
|
3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3p14.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs796065047 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs869320673 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001726 |
Component |
Ruffle |
ISS |
|
GO:0001786 |
Function |
Phosphatidylserine binding |
IDA |
18034774 |
GO:0005515 |
Function |
Protein binding |
IPI |
10490823, 12011067, 15016378, 16189514, 16273093, 16622416, 17030088, 17581628, 18034774, 19433865, 19661063, 21233288, 21291857, 21645192, 23414517, 23752268, 24879834, 25241761, 25416956, 25814554, 26583432, 28514442, 29568061, 31515488, 32296183 |
GO:0005634 |
Component |
Nucleus |
IDA |
15016378, 18034774, 19433865, 26583432 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
19433865, 19661063, 21291857 |
GO:0005768 |
Component |
Endosome |
IDA |
26583432 |
GO:0005769 |
Component |
Early endosome |
IDA |
21645192 |
GO:0005769 |
Component |
Early endosome |
ISS |
|
GO:0005829 |
Component |
Cytosol |
IDA |
17848569 |
GO:0005886 |
Component |
Plasma membrane |
IDA |
18034774 |
GO:0006606 |
Process |
Protein import into nucleus |
IDA |
26583432 |
GO:0007049 |
Process |
Cell cycle |
IEA |
|
GO:0007165 |
Process |
Signal transduction |
TAS |
10490823 |
GO:0007179 |
Process |
Transforming growth factor beta receptor signaling pathway |
IMP |
26583432 |
GO:0008286 |
Process |
Insulin receptor signaling pathway |
IBA |
21873635 |
GO:0008286 |
Process |
Insulin receptor signaling pathway |
IMP |
26073777 |
GO:0008286 |
Process |
Insulin receptor signaling pathway |
TAS |
17848569 |
GO:0010008 |
Component |
Endosome membrane |
IBA |
21873635 |
GO:0010008 |
Component |
Endosome membrane |
IDA |
15016378 |
GO:0010008 |
Component |
Endosome membrane |
TAS |
|
GO:0010762 |
Process |
Regulation of fibroblast migration |
ISS |
|
GO:0012506 |
Component |
Vesicle membrane |
IDA |
17848569 |
GO:0016020 |
Component |
Membrane |
IDA |
18034774 |
GO:0023052 |
Process |
Signaling |
IBA |
21873635 |
GO:0031410 |
Component |
Cytoplasmic vesicle |
IDA |
18034774 |
GO:0031901 |
Component |
Early endosome membrane |
IEA |
|
GO:0032009 |
Component |
Early phagosome |
ISS |
|
GO:0033211 |
Process |
Adiponectin-activated signaling pathway |
IMP |
19661063 |
GO:0034143 |
Process |
Regulation of toll-like receptor 4 signaling pathway |
ISS |
|
GO:0035091 |
Function |
Phosphatidylinositol binding |
IDA |
18034774 |
GO:0035729 |
Process |
Cellular response to hepatocyte growth factor stimulus |
ISS |
|
GO:0042802 |
Function |
Identical protein binding |
IPI |
17502098, 17581628, 18034774, 25416956, 31515488, 32296183 |
GO:0042803 |
Function |
Protein homodimerization activity |
IDA |
18034774 |
GO:0043422 |
Function |
Protein kinase B binding |
IBA |
21873635 |
GO:0043422 |
Function |
Protein kinase B binding |
IPI |
17848569 |
GO:0044354 |
Component |
Macropinosome |
ISS |
|
GO:0044877 |
Function |
Protein-containing complex binding |
IPI |
15016378 |
GO:0045088 |
Process |
Regulation of innate immune response |
ISS |
|
GO:0046324 |
Process |
Regulation of glucose import |
IMP |
17848569 |
GO:0046326 |
Process |
Positive regulation of glucose import |
IMP |
24879834 |
GO:0048023 |
Process |
Positive regulation of melanin biosynthetic process |
IMP |
21291857 |
GO:0048487 |
Function |
Beta-tubulin binding |
IDA |
26583432 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
18570454, 19056867 |
GO:0097192 |
Process |
Extrinsic apoptotic signaling pathway in absence of ligand |
TAS |
|
GO:0097708 |
Component |
Intracellular vesicle |
IDA |
21291857 |
GO:1900017 |
Process |
Positive regulation of cytokine production involved in inflammatory response |
ISS |
|
GO:1903076 |
Process |
Regulation of protein localization to plasma membrane |
IMP |
17848569 |
GO:1905303 |
Process |
Positive regulation of macropinocytosis |
ISS |
|
GO:1905450 |
Process |
Negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis |
ISS |
|
GO:2000045 |
Process |
Regulation of G1/S transition of mitotic cell cycle |
IDA |
15016378 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q9UKG1 |
Protein name |
DCC-interacting protein 13-alpha (Dip13-alpha) (Adapter protein containing PH domain, PTB domain and leucine zipper motif 1) |
Protein function |
Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:10490823, |
PDB |
2EJ8
,
2ELA
,
2ELB
,
2Q12
,
2Q13
,
2Z0N
,
2Z0O
,
5C5B
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF16746 |
BAR_3 |
7 → 247 |
|
Domain |
PF00169 |
PH |
278 → 375 |
PH domain |
Domain |
PF00640 |
PID |
502 → 633 |
Phosphotyrosine interaction domain (PTB/PID) |
Domain |
|
Sequence |
|
Sequence length |
709 |
Interactions |
View interactions |