APPL1
entrez
26060
canonical
uniprot
Q9UKG1
canonical
ensembl
ENSG00000157500
resolver
ensp
ENSP00000288266
resolver
ensp
ENSP00000498115
resolver
ensp
ENSP00000525579
resolver
enst
ENST00000288266
resolver
enst
ENST00000650354
resolver
enst
ENST00000855520
resolver
genesymbol
APPL1
resolver
genesymbol_syn
APPL
resolver
genesymbol_syn
DIP13A
resolver
genesymbol_syn
KIAA1428
resolver
hgnc
HGNC:24035
resolver
uniprot
Q9P2B9
resolver
uniprot_entry
DP13A_HUMAN
resolver
uniprot_sec
Q9P2B9
resolver
amino_acid_sequence
MPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAMHRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDEVMSSTLQQFSKVIDELSSCHAVLSTQLADAMMFPITQFKERDLKEILTLKEVFQIASNDHDAAINRYSRLSKKRENDKVKYEVTEDVYTSRKKQHQTMMHYFCALNTLQYKKKIALLEPLLGYMQAQISFFKMGSENLNEQLEEFLANIGTSVQNVRREMDSDIETMQQTIEDLEVASDPLYVPDPDPTKFPVNRNLTRKAGYLNARNKTGLVSSTWDRQFYFTQGGNLMSQARGDVAGGLAMDIDNCSVMAVDCEDRRYCFQITSFDGKKSSILQAESKKDHEEWICTINNISKQIYLSENPEETAARVNQSALEAVTPSPSFQQRHESLRPAAGQSRPPTARTSSSGSLGSESTNLAALSLDSLVAPDTPIQFDIISPVCEDQPGQAKAFGQGGRRTNPFGESGGSTKSETEDSILHQLFIVRFLGSMEVKSDDHPDVVYETMRQILAARAIHNIFRMTESHLLVTCDCLKLIDPQTQVTRLTFPLPCVVLYATHQENKRLFGFVLRTSSGRSESNLSSVCYIFESNNEGEKICDSVGLAKQIALHAELDRRASEKQKEIERVKEKQQKELNKQKQIEKDLEEQSRLIAASSRPNQASSEGQFVVLSSSQSEESDLGEGGKKRESEA
uniprot
proteins
disease_involvement
DISEASE: Maturity-onset diabetes of the young 14 (MODY14) [MIM:616511]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:26073777}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, PubMed:15016378, PubMed:19661063, PubMed:26073777, PubMed:26583432). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). 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 (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting and insulin signaling pathways (PubMed:19661063, PubMed:24879834, PubMed:26073777). 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 (PubMed:19433865). {ECO:0000250|UniProtKB:Q8K3H0, ECO:0000269|PubMed:10490823, ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:19433865, ECO:0000269|PubMed:19661063, ECO:0000269|PubMed:24879834, ECO:0000269|PubMed:26073777, ECO:0000269|PubMed:26583432}.
uniprot
proteins
mass_dalton
79663
uniprot
proteins
mutagenesis
MUTAGEN 410; /note="S->D: Decreased interaction with OCRL."; /evidence="ECO:0000269|PubMed:17765681
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-410 by PKA severely impairs binding to OCRL. {ECO:0000269|PubMed:17765681}.
uniprot
proteins
pubmed
10490823
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
12011067
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15016378
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17030088
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17765681
uniprot
proteins
pubmed
18034774
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19433865
uniprot
proteins
pubmed
19661063
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20133602
uniprot
proteins
pubmed
21233288
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21645192
uniprot
proteins
pubmed
21666675
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24879834
uniprot
proteins
pubmed
26073777
uniprot
proteins
pubmed
26583432
uniprot
proteins
sequence_length
709
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:20133602, ECO:0000269|PubMed:21645192}; Peripheral membrane protein {ECO:0000269|PubMed:15016378}. Nucleus {ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:19433865, ECO:0000269|PubMed:26583432}. Cytoplasm {ECO:0000269|PubMed:19433865, ECO:0000269|PubMed:19661063}. Endosome {ECO:0000269|PubMed:26583432}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q8K3H0}. Cytoplasmic vesicle, phagosome {ECO:0000250|UniProtKB:Q8K3H0}. Note=Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF. {ECO:0000269|PubMed:15016378}.
uniprot
proteins