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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Maturity-onset diabetes of the young type 14 Pathogenic rs869320673 RCV000190336
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APPL1-related disorder Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 20559435 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 22227293
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 22227293
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 27771154 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26583432
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26583432 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36846720 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 27511117
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 27511117 Stimulate
★☆☆☆☆
Found in Text Mining only
Congenital Hyperinsulinism Hyperinsulinemic hypoglycemia HPO_DG
★☆☆☆☆
Found in Text Mining only