Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26060
Gene name Gene Name - the full gene name approved by the HGNC.
Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APPL1
Synonyms (NCBI Gene) Gene synonyms aliases
APPL, DIP13alpha, MODY14
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MODY14
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.3
Summary Summary 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
SNPs SNP 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019612 hsa-miR-340-5p Sequencing 20371350
MIRT024351 hsa-miR-215-5p Microarray 19074876
MIRT026723 hsa-miR-192-5p Microarray 19074876
MIRT027894 hsa-miR-96-5p Sequencing 20371350
MIRT028333 hsa-miR-32-5p Sequencing 20371350
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604299 24035 ENSG00000157500
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
Tissue specificity TISSUE SPECIFICITY: High levels in heart, ovary, pancreas and skeletal muscle. {ECO:0000269|PubMed:10490823}.
Sequence
Sequence length 709
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Diabetes maturity-onset diabetes of the young type 14, maturity-onset diabetes of the young GenCC
Monogenic Diabetes monogenic diabetes GenCC
Associations from Text Mining
Disease Name Relationship Type References
Atherosclerosis Associate 27771154
Breast Neoplasms Associate 26583432
Carcinoma Renal Cell Associate 36846720
Colorectal Neoplasms Stimulate 27511117
Dent Disease Associate 20133602
Diabetes Mellitus Associate 26073777, 36208030
Diabetes Mellitus Type 2 Stimulate 21562756
Diabetes Mellitus Type 2 Associate 26073777, 27771154, 36208030
Fatty Liver Associate 23977033
Inflammation Associate 36846720