APPL1 Chromosome 3
Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
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What This Gene Does
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, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
BAR-PH domain containing
Locus Type
gene with protein product
Location
3p14.3
Ensembl
ENSG00000157500
Associated Conditions (1)
Maturity-onset diabetes of the young type 14
Key Variants
RS138485817
Conflicting classifications of pathogenicity
Health Risk
RS142166154
Conflicting classifications of pathogenicity
Health Risk
RS144769112
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 14, Maturity-onset diabetes of the young type 14
Health Risk
RS757479184
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 14, Maturity-onset diabetes of the young type 14
Health Risk
RS767956335
Conflicting classifications of pathogenicity
Health Risk
RS1344931712
Likely pathogenic
Health Risk
RS869320673
Pathogenic
Maturity-onset diabetes of the young type 14, Maturity-onset diabetes of the young type 14
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138485817 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142166154 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144769112 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 14, Maturity-onset diabetes of the young type 14 |
| RS757479184 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 14, Maturity-onset diabetes of the young type 14 |
| RS767956335 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1344931712 | Health Risk | Likely pathogenic | — |
| RS869320673 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 14, Maturity-onset diabetes of the young type 14 |