ATPase H+ transporting accessory protein 1
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Diagnostic Grade (Green)
Congenital disorders of glycosylation
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesCOVID-19 research
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesLikely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesPrimary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesUndiagnosed metabolic disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesChildhood onset dystonia, chorea or related movement disorder
immunodeficiency 47
neurodegenerative disease
congenital disorder of glycosylation type II
hereditary disease
ALG2-congenital disorder of glycosylation
breast cancer
breast carcinoma
colorectal carcinoma
reading
neoplasm
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
V-type proton ATPase subunit S1
Accessory subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:28296633, PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (PubMed:28296633, PubMed:33065002). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050). Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity (PubMed:27231034). Involved in membrane trafficking and Ca(2+)-dependent membrane fusion (PubMed:27231034). May play a role in the assembly of the V-type ATPase complex (Probable). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). In islets of Langerhans cells, may regulate the acidification of dense-core secretory granules (By similarity)
ATP6AP1 · Q15904
Mean pLDDT
78.8/ 100
Confident
470 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
