SEC61A1 Chromosome 3
SEC61 translocon subunit alpha 1
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What This Gene Does
The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sec61 complex subunits
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000058262
Associated Conditions (13)
SEC61A1-related disorder
Inborn genetic diseases
Hyperuricemic nephropathy
familial juvenile type 4
Decreased circulating immunoglobulin concentration
Immunodeficiency
common variable
15
Neutropenia
severe congenital
11
autosomal dominant
Familial prostate cancer
Key Variants
RS189545025
Conflicting classifications of pathogenicity
SEC61A1-related disorder, SEC61A1-related disorder
Health Risk
RS202044086
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS775477059
Conflicting classifications of pathogenicity
Hyperuricemic nephropathy, familial juvenile type 4, Hyperuricemic nephropathy
Health Risk
RS775662884
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553721236
Likely pathogenic
Decreased circulating immunoglobulin concentration, Immunodeficiency, common variable
Health Risk
RS2473020544
Likely pathogenic
Hyperuricemic nephropathy, familial juvenile type 4, Hyperuricemic nephropathy
Health Risk
RS2107641650
Pathogenic
Hyperuricemic nephropathy, familial juvenile type 4, Hyperuricemic nephropathy
Health Risk
RS2473020552
Pathogenic
Neutropenia, severe congenital, 11
Health Risk
RS2473045892
Pathogenic
Immunodeficiency, common variable, 15
Health Risk
RS752745051
Pathogenic
Hyperuricemic nephropathy, familial juvenile type 4, Hyperuricemic nephropathy
Health Risk
RS879255648
Pathogenic
Hyperuricemic nephropathy, familial juvenile type 4, Familial prostate cancer
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS189545025 | Health Risk | Conflicting classifications of pathogenicity | SEC61A1-related disorder, SEC61A1-related disorder |
| RS202044086 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775477059 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemic nephropathy, familial juvenile type 4, Hyperuricemic nephropathy |
| RS775662884 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1553721236 | Health Risk | Likely pathogenic | Decreased circulating immunoglobulin concentration, Immunodeficiency, common variable |
| RS2473020544 | Health Risk | Likely pathogenic | Hyperuricemic nephropathy, familial juvenile type 4, Hyperuricemic nephropathy |
| RS2107641650 | Health Risk | Pathogenic | Hyperuricemic nephropathy, familial juvenile type 4, Hyperuricemic nephropathy |
| RS2473020552 | Health Risk | Pathogenic | Neutropenia, severe congenital, 11 |
| RS2473045892 | Health Risk | Pathogenic | Immunodeficiency, common variable, 15 |
| RS752745051 | Health Risk | Pathogenic | Hyperuricemic nephropathy, familial juvenile type 4, Hyperuricemic nephropathy |
| RS879255648 | Health Risk | Pathogenic | Hyperuricemic nephropathy, familial juvenile type 4, Familial prostate cancer |