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Aliases for APPL1 Gene

Aliases for APPL1 Gene

  • Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper Containing 1 2 3
  • APPL 3 4 6
  • Adapter Protein Containing PH Domain, PTB Domain And Leucine Zipper Motif 1 3 4
  • Dip13-Alpha 3 4
  • Adaptor Protein Containing PH Domain, PTB Domain And Leucine Zipper Motif 1 3
  • Signaling Adaptor Protein DIP13alpha 3
  • DCC-Interacting Protein 13-Alpha 3
  • AKT2 Interactor 3
  • DIP13alpha 3
  • KIAA1428 4
  • DIP13A 4

External Ids for APPL1 Gene

Summaries for APPL1 Gene

Entrez Gene Summary for APPL1 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, 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]

GeneCards Summary for APPL1 Gene

APPL1 (Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper Containing 1) is a Protein Coding gene. Diseases associated with APPL1 include exophthalmos. Among its related pathways are Pathways in cancer and Cytoskeletal Signaling. GO annotations related to this gene include identical protein binding and protein kinase B binding. An important paralog of this gene is APPL2.

UniProtKB/Swiss-Prot for APPL1 Gene

  • Required for the regulation of cell proliferation in response to extracellular signals from an early endosomal compartment. Links Rab5 to nuclear signal transduction.

Gene Wiki entry for APPL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APPL1 Gene

Genomics for APPL1 Gene

Genomic Location for APPL1 Gene

Start:
57,227,737 bp from pter
End:
57,273,471 bp from pter
Size:
45,735 bases
Orientation:
Plus strand

Genomic View for APPL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APPL1 Gene

Regulatory Elements for APPL1 Gene

Proteins for APPL1 Gene

  • Protein details for APPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKG1-DP13A_HUMAN
    Recommended name:
    DCC-interacting protein 13-alpha
    Protein Accession:
    Q9UKG1
    Secondary Accessions:
    • Q9P2B9

    Protein attributes for APPL1 Gene

    Size:
    709 amino acids
    Molecular mass:
    79663 Da
    Quaternary structure:
    • Binds RAB5A/Rab5 through an N-terminal domain. This interaction is essential for its recruitment to endosomal membranes as well as its role in cell proliferation. Binds DCC and the catalytic domain of the inactive form of AKT2 through its PID domain. Binds PIK3CA and subunits of the NuRD/MeCP1 complex. Interacts with OCRL and INPP5B.

    Three dimensional structures from OCA and Proteopedia for APPL1 Gene

neXtProt entry for APPL1 Gene

Proteomics data for APPL1 Gene at MOPED

Post-translational modifications for APPL1 Gene

  • Phosophorylation at Ser-410 by PKA severely impairs binding to OCRL
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys63, Lys66, and Lys581

Other Protein References for APPL1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for APPL1 Gene

Domains for APPL1 Gene

Gene Families for APPL1 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

Protein Domains for APPL1 Gene

UniProtKB/Swiss-Prot:

DP13A_HUMAN
Domain:
  • Overexpression of an N-terminal domain (residues 1-319) or a C-terminal region (residues 273-709) has a proapoptotic effect.:
    • Q9UKG1
  • The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.:
    • Q9UKG1
  • Contains 1 PH domain.:
    • Q9UKG1
  • Contains 1 PID domain.:
    • Q9UKG1
genes like me logo Genes that share domains with APPL1: view

Function for APPL1 Gene

Molecular function for APPL1 Gene

GENATLAS Biochemistry: amyloid beta (A4) precursor protein-like 1
UniProtKB/Swiss-Prot Function: Required for the regulation of cell proliferation in response to extracellular signals from an early endosomal compartment. Links Rab5 to nuclear signal transduction.

Gene Ontology (GO) - Molecular Function for APPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10490823
GO:0042802 identical protein binding IPI 17581628
GO:0043422 protein kinase B binding IPI 17848569
genes like me logo Genes that share ontologies with APPL1: view
genes like me logo Genes that share phenotypes with APPL1: view

Animal Models for APPL1 Gene

MGI Knock Outs for APPL1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for APPL1 Gene

Localization for APPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APPL1 Gene

Early endosome membrane; Peripheral membrane protein. Nucleus. Note=Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APPL1 Gene COMPARTMENTS Subcellular localization image for APPL1 gene
Compartment Confidence
endosome 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for APPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15016378
GO:0005737 cytoplasm IC 10490823
GO:0005829 cytosol IDA 17848569
GO:0010008 endosome membrane TAS --
GO:0012506 vesicle membrane IDA 17848569
genes like me logo Genes that share ontologies with APPL1: view

Pathways for APPL1 Gene

genes like me logo Genes that share pathways with APPL1: view

Pathways by source for APPL1 Gene

1 Qiagen pathway for APPL1 Gene
1 Cell Signaling Technology pathway for APPL1 Gene

Gene Ontology (GO) - Biological Process for APPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS --
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction TAS 10490823
GO:0008283 cell proliferation IDA 15016378
GO:0008286 insulin receptor signaling pathway TAS 17848569
genes like me logo Genes that share ontologies with APPL1: view

Compounds for APPL1 Gene

(4) Novoseek inferred chemical compound relationships for APPL1 Gene

Compound -log(P) Hits PubMed IDs
phosphotyrosine 60.2 2
leucine 57.1 3
phosphatidylinositol 34.3 2
lipid 0 2
genes like me logo Genes that share compounds with APPL1: view

Transcripts for APPL1 Gene

Unigene Clusters for APPL1 Gene

Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for APPL1 Gene

No ASD Table

Relevant External Links for APPL1 Gene

GeneLoc Exon Structure for
APPL1
ECgene alternative splicing isoforms for
APPL1

Expression for APPL1 Gene

mRNA expression in normal human tissues for APPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APPL1 Gene

SOURCE GeneReport for Unigene cluster for APPL1 Gene Hs.476415

mRNA Expression by UniProt/SwissProt for APPL1 Gene

Q9UKG1-DP13A_HUMAN
Tissue specificity: High levels in heart, ovary, pancreas and skeletal muscle.
genes like me logo Genes that share expressions with APPL1: view

Orthologs for APPL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APPL1 36
  • 99.91 (n)
  • 100 (a)
APPL1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APPL1 36
  • 94.44 (n)
  • 97.88 (a)
APPL1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APPL1 36
  • 94.26 (n)
  • 98.45 (a)
APPL1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Appl1 36
  • 92.36 (n)
  • 98.3 (a)
Appl1 16
Appl1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APPL1 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 85 (a)
OneToMany
-- 37
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Appl1 36
  • 91.98 (n)
  • 97.83 (a)
chicken
(Gallus gallus)
Aves APPL1 36
  • 81.92 (n)
  • 91.36 (a)
APPL1 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APPL1 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68986 36
tropical clawed frog
(Silurana tropicalis)
Amphibia appl1 36
  • 73.39 (n)
  • 86.08 (a)
zebrafish
(Danio rerio)
Actinopterygii appl1 36
  • 71.95 (n)
  • 80.59 (a)
appl1 37
  • 80 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 43 (a)
OneToMany
Species with no ortholog for APPL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APPL1 Gene

ENSEMBL:
Gene Tree for APPL1 (if available)
TreeFam:
Gene Tree for APPL1 (if available)

Paralogs for APPL1 Gene

Paralogs for APPL1 Gene

Selected SIMAP similar genes for APPL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with APPL1: view

Variants for APPL1 Gene

Sequence variations from dbSNP and Humsavar for APPL1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs925566 -- 57,259,269(-) TTTGT(A/G)TGAAT intron-variant
rs1513469 -- 57,243,039(-) GGAAA(A/G)AATAA intron-variant
rs1513470 -- 57,242,662(-) GTTTT(A/C/T)AAAAA intron-variant
rs1533272 -- 57,260,267(-) GACCA(A/G)TCATA intron-variant
rs1553987 -- 57,241,117(-) TCCTT(C/T)GCTCA intron-variant

Relevant External Links for APPL1 Gene

HapMap Linkage Disequilibrium report
APPL1

No data available for Structural Variations from Database of Genomic Variants (DGV) for APPL1 Gene

Disorders for APPL1 Gene

(1) MalaCards Diseases for APPL1 Gene

Search for APPL1 Gene in MalaCards »

(1) Novoseek inferred disease relationships for APPL1 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 31.5 1

Relevant External Links for APPL1

Genetic Association Database (GAD)
APPL1
Human Genome Epidemiology (HuGE) Navigator
APPL1
genes like me logo Genes that share disorders with APPL1: view

No data available for UniProtKB/Swiss-Prot for APPL1 Gene

Publications for APPL1 Gene

  1. Identification of a chromosome 3p14.3-21.1 gene, APPL, encoding an adaptor molecule that interacts with the oncoprotein-serine/threonine kinase AKT2. (PMID: 10490823) Mitsuuchi Y. … Testa J.R. (Oncogene 1999) 2 3 4 23
  2. APPL1, APPL2, Akt2 and FOXO1a interact with FSHR in a potential signaling complex. (PMID: 17030088) Nechamen C.A. … Dias J.A. (Mol. Cell. Endocrinol. 2007) 2 3 23
  3. Genetic variation within the APPL locus is not associated with metabolic or inflammatory traits in a healthy White population. (PMID: 17490420) Staiger H. … HAoring H.U. (Diabet. Med. 2007) 3 23 49
  4. APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment. (PMID: 15016378) Miaczynska M. … Zerial M. (Cell 2004) 3 4 23
  5. Membrane targeting by APPL1 and APPL2: dynamic scaffolds that oligomerize and bind phosphoinositides. (PMID: 18034774) Chial H.J. … Chen Y.Q. (Traffic 2008) 3 23

Products for APPL1 Gene

  • Addgene plasmids for APPL1

Sources for APPL1 Gene

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