AP1S1 Chromosome 7
Adaptor related protein complex 1 subunit sigma 1
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What This Gene Does
The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Adaptor related protein complex 1|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000106367
Associated Conditions (3)
Inborn genetic diseases
AP1S1-related disorder
MEDNIK syndrome
Key Variants
RS200310743
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS371572977
Conflicting classifications of pathogenicity
Inborn genetic diseases, AP1S1-related disorder, Inborn genetic diseases
Health Risk
RS767358930
Likely pathogenic
MEDNIK syndrome, MEDNIK syndrome, MEDNIK syndrome
Health Risk
RS370460433
Pathogenic
Health Risk
RS751430853
Pathogenic
MEDNIK syndrome, AP1S1-related disorder, MEDNIK syndrome
Health Risk
RS780629485
Pathogenic
Health Risk
RS1310110289
Pathogenic/Likely pathogenic
Inborn genetic diseases, MEDNIK syndrome, Inborn genetic diseases
Health Risk
RS1584203922
Pathogenic/Likely pathogenic
MEDNIK syndrome, MEDNIK syndrome
Health Risk
RS754496700
Pathogenic/Likely pathogenic
MEDNIK syndrome, MEDNIK syndrome
Health Risk
RS981747624
Pathogenic/Likely pathogenic
MEDNIK syndrome, MEDNIK syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200310743 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371572977 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, AP1S1-related disorder, Inborn genetic diseases |
| RS767358930 | Health Risk | Likely pathogenic | MEDNIK syndrome, MEDNIK syndrome, MEDNIK syndrome |
| RS370460433 | Health Risk | Pathogenic | — |
| RS751430853 | Health Risk | Pathogenic | MEDNIK syndrome, AP1S1-related disorder, MEDNIK syndrome |
| RS780629485 | Health Risk | Pathogenic | — |
| RS1310110289 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, MEDNIK syndrome, Inborn genetic diseases |
| RS1584203922 | Health Risk | Pathogenic/Likely pathogenic | MEDNIK syndrome, MEDNIK syndrome |
| RS754496700 | Health Risk | Pathogenic/Likely pathogenic | MEDNIK syndrome, MEDNIK syndrome |
| RS981747624 | Health Risk | Pathogenic/Likely pathogenic | MEDNIK syndrome, MEDNIK syndrome |