ATP6V1A Chromosome 3
ATPase H+ transporting V1 subunit A
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What This Gene Does
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"V-type ATPase subunits|ATPase F1/V1 alpha/A and beta/B subunit family"
Locus Type
gene with protein product
Location
3q13.31
Ensembl
ENSG00000114573
Associated Conditions (7)
Inborn genetic diseases
Developmental and epileptic encephalopathy 93
Autosomal recessive cutis laxa type 2D
ATP6V1A-related disorder
Vascular disorder
Encephalopathy
Cerebral visual impairment and intellectual disability
Key Variants
RS571817807
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754805158
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS758392307
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 93, Autosomal recessive cutis laxa type 2D, Developmental and epileptic encephalopathy 93
Health Risk
RS768704096
Conflicting classifications of pathogenicity
ATP6V1A-related disorder, Vascular disorder, ATP6V1A-related disorder
Health Risk
RS1559759089
Likely pathogenic
Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
Health Risk
RS1709263798
Likely pathogenic
Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
Health Risk
RS2108033397
Likely pathogenic
Encephalopathy, Developmental and epileptic encephalopathy 93, Encephalopathy
Health Risk
RS2549719217
Likely pathogenic
Developmental and epileptic encephalopathy 93, Autosomal recessive cutis laxa type 2D, Developmental and epileptic encephalopathy 93
Health Risk
RS2549720448
Likely pathogenic
Health Risk
RS1060505037
Pathogenic
Autosomal recessive cutis laxa type 2D, Autosomal recessive cutis laxa type 2D
Health Risk
RS1553709855
Pathogenic
Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
Health Risk
RS1553710664
Pathogenic
Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS571817807 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754805158 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758392307 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy 93, Autosomal recessive cutis laxa type 2D, Developmental and epileptic encephalopathy 93 |
| RS768704096 | Health Risk | Conflicting classifications of pathogenicity | ATP6V1A-related disorder, Vascular disorder, ATP6V1A-related disorder |
| RS1559759089 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS1709263798 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS2108033397 | Health Risk | Likely pathogenic | Encephalopathy, Developmental and epileptic encephalopathy 93, Encephalopathy |
| RS2549719217 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 93, Autosomal recessive cutis laxa type 2D, Developmental and epileptic encephalopathy 93 |
| RS2549720448 | Health Risk | Likely pathogenic | — |
| RS1060505037 | Health Risk | Pathogenic | Autosomal recessive cutis laxa type 2D, Autosomal recessive cutis laxa type 2D |
| RS1553709855 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS1553710664 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS1553710694 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS2108034196 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS2549722082 | Health Risk | Pathogenic | — |
| RS2549723925 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS2549723939 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS2549725080 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93 |
| RS1553709380 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy 93, Inborn genetic diseases |
| RS1709072898 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 93, Inborn genetic diseases, Developmental and epileptic encephalopathy 93 |
| RS869312870 | Health Risk | Pathogenic/Likely pathogenic | Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |