Gene Gene information from NCBI Gene database.
Entrez ID 26060
Gene name Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
Gene symbol APPL1
Synonyms (NCBI Gene)
APPLDIP13alphaMODY14
Chromosome 3
Chromosome location 3p14.3
Summary 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.
2
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.
828
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
78
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0001726 Component Ruffle ISS
GO:0001786 Function Phosphatidylserine binding IDA 18034774
GO:0001786 Function Phosphatidylserine binding IEA
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, 33961781, 35271311, 35384245
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604299 24035 ENSG00000157500
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
51
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Maturity-onset diabetes of the young type 14 Pathogenic rs869320673 RCV000190336
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs9811405 RCV005922000
APPL1-related disorder Benign; Likely benign; Uncertain significance rs35776173, rs141978531, rs571175742, rs142229340, rs548416830, rs201500452, rs34321969, rs778141780, rs752690932, rs746468995, rs149863724, rs147166062 RCV003911025
RCV003956395
RCV003923789
RCV004725514
RCV004744613
RCV004744399
RCV004744516
RCV003417081
RCV003397312
RCV003907137
RCV003913843
RCV003930664
Cervical cancer Benign; Likely benign rs9811405, rs60627410 RCV005922002
RCV005920920
Cholangiocarcinoma Benign rs9811405 RCV005922005
Associations from Text MiningDisease associations identified through Pubtator
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