GPAA1 Chromosome 8
Glycosylphosphatidylinositol anchor attachment 1
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What This Gene Does
Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glycosylphosphatidylinositol transamidase complex
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000197858
Associated Conditions (4)
GPAA1-related disorder
Glycosylphosphatidylinositol biosynthesis defect 15
Inborn genetic diseases
See cases
Key Variants
RS13255101
Conflicting classifications of pathogenicity
GPAA1-related disorder, Glycosylphosphatidylinositol biosynthesis defect 15, GPAA1-related disorder
Health Risk
RS146686863
Conflicting classifications of pathogenicity
Glycosylphosphatidylinositol biosynthesis defect 15, Inborn genetic diseases, Glycosylphosphatidylinositol biosynthesis defect 15
Health Risk
RS1554764058
Conflicting classifications of pathogenicity
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
Health Risk
RS199578024
Conflicting classifications of pathogenicity
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
Health Risk
RS200581623
Conflicting classifications of pathogenicity
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
Health Risk
RS200999813
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782195029
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782339984
Conflicting classifications of pathogenicity
Glycosylphosphatidylinositol biosynthesis defect 15, See cases, Inborn genetic diseases
Health Risk
RS922800309
Conflicting classifications of pathogenicity
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
Health Risk
RS1010907740
Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
Health Risk
RS113583033
Likely pathogenic
Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
Health Risk
RS1256250558
Likely pathogenic
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS13255101 | Health Risk | Conflicting classifications of pathogenicity | GPAA1-related disorder, Glycosylphosphatidylinositol biosynthesis defect 15, GPAA1-related disorder |
| RS146686863 | Health Risk | Conflicting classifications of pathogenicity | Glycosylphosphatidylinositol biosynthesis defect 15, Inborn genetic diseases, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1554764058 | Health Risk | Conflicting classifications of pathogenicity | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS199578024 | Health Risk | Conflicting classifications of pathogenicity | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS200581623 | Health Risk | Conflicting classifications of pathogenicity | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS200999813 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782195029 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782339984 | Health Risk | Conflicting classifications of pathogenicity | Glycosylphosphatidylinositol biosynthesis defect 15, See cases, Inborn genetic diseases |
| RS922800309 | Health Risk | Conflicting classifications of pathogenicity | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1010907740 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS113583033 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1256250558 | Health Risk | Likely pathogenic | — |
| RS1314042787 | Health Risk | Likely pathogenic | — |
| RS1554763770 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1554763955 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1564304413 | Health Risk | Likely pathogenic | — |
| RS187027021 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS2129946524 | Health Risk | Likely pathogenic | — |
| RS2537313097 | Health Risk | Likely pathogenic | — |
| RS2537316101 | Health Risk | Likely pathogenic | — |
| RS773061439 | Health Risk | Likely pathogenic | — |
| RS781822297 | Health Risk | Likely pathogenic | — |
| RS781908018 | Health Risk | Likely pathogenic | GPAA1-related disorder, GPAA1-related disorder |
| RS782140153 | Health Risk | Likely pathogenic | — |
| RS782220208 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS782689725 | Health Risk | Likely pathogenic | — |
| RS782768127 | Health Risk | Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1372329126 | Health Risk | Pathogenic | — |
| RS1554764067 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1554764080 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1554764151 | Health Risk | Pathogenic | — |
| RS1835941699 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS1835951888 | Health Risk | Pathogenic | — |
| RS2129944173 | Health Risk | Pathogenic | — |
| RS2537314001 | Health Risk | Pathogenic | — |
| RS2537316091 | Health Risk | Pathogenic | — |
| RS2537316260 | Health Risk | Pathogenic | — |
| RS368192144 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS368478276 | Health Risk | Pathogenic | — |
| RS374893682 | Health Risk | Pathogenic | — |
| RS782232273 | Health Risk | Pathogenic | — |
| RS782615259 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, GPAA1-related disorder, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS782795832 | Health Risk | Pathogenic | — |
| RS868951923 | Health Risk | Pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS2129936761 | Health Risk | Pathogenic/Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15 |
| RS2537315172 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS372939605 | Health Risk | Pathogenic/Likely pathogenic | GPAA1-related disorder, GPAA1-related disorder |
| RS782498857 | Health Risk | Pathogenic/Likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 15, Inborn genetic diseases, Glycosylphosphatidylinositol biosynthesis defect 15 |