• Gene id: 26060

Gene Summary

• Gene Symbol: APPL1   Gene   UCSC   Ensembl
• Aliases: APPL, DIP13alpha, MODY14
• Gene name: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
• Alternate names: DCC-interacting protein 13-alpha, AKT2 interactor, adapter protein containing PH domain, PTB domain and leucine zipper motif 1, adaptor protein containing pH domain, PTB domain and leucine zipper motif 1, adaptor protein, phosphotyrosine interaction, PH domai,
• Gene location: 3p14.3 (57227728: 57273470)     Exons: 23     NC_000003.12
• Gene summary(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
• OMIM: 611085

Protein Summary

• Protein general information: Q9UKG1  
  • Name: DCC interacting protein 13 alpha (Dip13 alpha) (Adapter protein containing PH domain, PTB domain and leucine zipper motif 1)
  • Length: 709  
  • Mass: 79663
  • Tissue specificity: High levels in heart, ovary, pancreas and skeletal muscle. {ECO
• Sequence:

  MPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAMHRIYDAQNELSAATHLTSKLLKEYEKQRFPL
  GGDDEVMSSTLQQFSKVIDELSSCHAVLSTQLADAMMFPITQFKERDLKEILTLKEVFQIASNDHDAAINRYSRL
  SKKRENDKVKYEVTEDVYTSRKKQHQTMMHYFCALNTLQYKKKIALLEPLLGYMQAQISFFKMGSENLNEQLEEF
  LANIGTSVQNVRREMDSDIETMQQTIEDLEVASDPLYVPDPDPTKFPVNRNLTRKAGYLNARNKTGLVSSTWDRQ
  FYFTQGGNLMSQARGDVAGGLAMDIDNCSVMAVDCEDRRYCFQITSFDGKKSSILQAESKKDHEEWICTINNISK
  QIYLSENPEETAARVNQSALEAVTPSPSFQQRHESLRPAAGQSRPPTARTSSSGSLGSESTNLAALSLDSLVAPD
  TPIQFDIISPVCEDQPGQAKAFGQGGRRTNPFGESGGSTKSETEDSILHQLFIVRFLGSMEVKSDDHPDVVYETM
  RQILAARAIHNIFRMTESHLLVTCDCLKLIDPQTQVTRLTFPLPCVVLYATHQENKRLFGFVLRTSSGRSESNLS
  SVCYIFESNNEGEKICDSVGLAKQIALHAELDRRASEKQKEIERVKEKQQKELNKQKQIEKDLEEQSRLIAASSR
  PNQASSEGQFVVLSSSQSEESDLGEGGKKRESEA

• Structural information:
  • Protein Domains: (3..26-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (277..37-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (496..65-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148"-)
  • Interpro: IPR027267  IPR037929  IPR011993  IPR001849  IPR006020  
  • Prosite: PS50003 PS01179
  • CDD: cd07631
  • PDB: 2EJ8 2ELA 2ELB 2Q12 2Q13 2Z0N 2Z0O 5C5B
  • PDBsum: 2EJ8 2ELA 2ELB 2Q12 2Q13 2Z0N 2Z0O 5C5B
  • DIP: 29322
  • STRING: ENSP00000288266
• Other Databases: GeneCards:  APPL1  Malacards:  APPL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008286	insulin receptor signaling pathway	IBA	biological process
GO:0043422	protein kinase B binding	IBA	molecular function
GO:0010008	endosome membrane	IBA	cellular component
GO:0023052	signaling	IBA	biological process
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0097708	intracellular vesicle	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006606	protein import into nucleus	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048023	positive regulation of melanin biosynthetic process	IMP	biological process
GO:1900017	positive regulation of cytokine production involved in inflammatory response	ISS	biological process
GO:0044354	macropinosome	ISS	cellular component
GO:0034143	regulation of toll-like receptor 4 signaling pathway	ISS	biological process
GO:0032009	early phagosome	ISS	cellular component
GO:0001726	ruffle	ISS	cellular component
GO:0035729	cellular response to hepatocyte growth factor stimulus	ISS	biological process
GO:0005769	early endosome	ISS	cellular component
GO:0046326	positive regulation of glucose import	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033211	adiponectin-activated signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905450	negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	ISS	biological process
GO:0010762	regulation of fibroblast migration	ISS	biological process
GO:1905303	positive regulation of macropinocytosis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045088	regulation of innate immune response	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900017	positive regulation of cytokine production involved in inflammatory response	IEA	biological process
GO:0044354	macropinosome	IEA	cellular component
GO:0035729	cellular response to hepatocyte growth factor stimulus	IEA	biological process
GO:0034143	regulation of toll-like receptor 4 signaling pathway	IEA	biological process
GO:0032009	early phagosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:1905450	negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	IEA	biological process
GO:1905303	positive regulation of macropinocytosis	IEA	biological process
GO:0045088	regulation of innate immune response	IEA	biological process
GO:0010762	regulation of fibroblast migration	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0043422	protein kinase B binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0012506	vesicle membrane	IDA	cellular component
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0046324	regulation of glucose import	IMP	biological process
GO:1903076	regulation of protein localization to plasma membrane	IMP	biological process
GO:0005768	endosome	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04211	Longevity regulating pathway
hsa05210	Colorectal cancer

Diseases

Associated diseases	References
Maturity onset diabetes of the young	KEGG:H00410
Maturity onset diabetes of the young	KEGG:H00410
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881