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APPL1
HPA
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  • APPL1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

APPL1
Synonyms APPL
Gene descriptioni

Full gene name according to HGNC.

Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 3
Cytoband p14.3
Chromosome location (bp) 57227726 - 57278105
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

3
Ensembl ENSG00000157500 (version 109)
Entrez gene 26060
HGNC HGNC:24035
UniProt Q9UKG1 (UniProt - Evidence at protein level)
neXtProt NX_Q9UKG1
GeneCards APPL1
Antibodypedia APPL1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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 1, 2, 3, 4, 5. Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex 6. Functions as a positive regulator of innate immune response via activation of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Inhibits Fc-gamma receptor-mediated phagocytosis through PI3K/Akt signaling in macrophages (By similarity). Regulates TLR4 signaling in activated macrophages (By similarity). Involved in trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner 7. Plays a role in cell metabolism by regulating adiponecting and insulin signaling pathways 8, 9, 10. Required for fibroblast migration through HGF cell signaling (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex 11.... show less
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Cell cycle
Gene summary (Entrez)i

Useful information about the gene from Entrez

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, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
APPL1-201
ENSP00000288266
ENST00000288266
Q9UKG1
[Direct mapping] DCC-interacting protein 13-alpha
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0001786 [phosphatidylserine binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006606 [protein import into nucleus]
GO:0007049 [cell cycle]
GO:0007165 [signal transduction]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
GO:0008286 [insulin receptor signaling pathway]
GO:0010008 [endosome membrane]
GO:0010762 [regulation of fibroblast migration]
GO:0012506 [vesicle membrane]
GO:0016020 [membrane]
GO:0023052 [signaling]
GO:0031410 [cytoplasmic vesicle]
GO:0031901 [early endosome membrane]
GO:0032009 [early phagosome]
GO:0033211 [adiponectin-activated signaling pathway]
GO:0034143 [regulation of toll-like receptor 4 signaling pathway]
GO:0035091 [phosphatidylinositol binding]
GO:0035729 [cellular response to hepatocyte growth factor stimulus]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042995 [cell projection]
GO:0043422 [protein kinase B binding]
GO:0044354 [macropinosome]
GO:0044877 [protein-containing complex binding]
GO:0045088 [regulation of innate immune response]
GO:0045335 [phagocytic vesicle]
GO:0046324 [regulation of glucose import]
GO:0046326 [positive regulation of glucose import]
GO:0048023 [positive regulation of melanin biosynthetic process]
GO:0048487 [beta-tubulin binding]
GO:0070062 [extracellular exosome]
GO:0097708 [intracellular vesicle]
GO:0098793 [presynapse]
GO:0098794 [postsynapse]
GO:0098978 [glutamatergic synapse]
GO:0099558 [maintenance of synapse structure]
GO:1900017 [positive regulation of cytokine production involved in inflammatory response]
GO:1903076 [regulation of protein localization to plasma membrane]
GO:1905303 [positive regulation of macropinocytosis]
GO:1905450 [negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis]
GO:2000045 [regulation of G1/S transition of mitotic cell cycle]
Show all
709 aa
79.7 kDa
No 0
APPL1-202
ENSP00000406095
ENST00000444459
C9JAB0
[Direct mapping] DCC-interacting protein 13-alpha
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
Protein evidence (Ezkurdia et al 2014)
Show all
133 aa
15.2 kDa
No 0
APPL1-208
ENSP00000419644
ENST00000495803
C9K0C4
[Direct mapping] DCC-interacting protein 13-alpha
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
Protein evidence (Ezkurdia et al 2014)
Show all
114 aa
13 kDa
No 0

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