ATP6AP1
entrez
537
canonical
uniprot
Q15904
canonical
ensembl
ENSG00000071553
resolver
ensp
ENSP00000358777
resolver
enst
ENST00000369762
resolver
genesymbol
ATP6AP1
resolver
genesymbol_syn
ATP6IP1
resolver
genesymbol_syn
ATP6S1
resolver
genesymbol_syn
VATPS1
resolver
genesymbol_syn
XAP3
resolver
hgnc
HGNC:868
resolver
uniprot
A0A384MQW4
resolver
uniprot
A6ZKI4
resolver
uniprot
Q8NBT4
resolver
uniprot
Q9H0C7
resolver
uniprot_entry
A0A384MQW4_HUMAN
resolver
uniprot_entry
VAS1_HUMAN
resolver
uniprot_sec
A6ZKI4
resolver
uniprot_sec
Q8NBT4
resolver
uniprot_sec
Q9H0C7
resolver
activity_regulation
ACTIVITY REGULATION: In response to calorie restriction, associates with metformin-bound PSENEN, leading to the inactivation of the V-ATPase complex and activation of AMPK via the AXIN1-STK11/LKB1 axis. {ECO:0000250|UniProtKB:Q9R1Q9}.
uniprot
proteins
amino_acid_sequence
MMAAMATARVRMGPRCAQALWRMPWLPVFLSLAAAAAAAAAEQQVPLVLWSSDRDLWAPAADTHEGHITSDLQLSTYLDPALELGPRNVLLFLQDKLSIEDFTAYGGVFGNKQDSAFSNLENALDLAPSSLVLPAVDWYAVSTLTTYLQEKLGASPLHVDLATLRELKLNASLPALLLIRLPYTASSGLMAPREVLTGNDEVIGQVLSTLKSEDVPYTAALTAVRPSRVARDVAVVAGGLGRQLLQKQPVSPVIHPPVSYNDTAPRILFWAQNFSVAYKDQWEDLTPLTFGVQELNLTGSFWNDSFARLSLTYERLFGTTVTFKFILANRLYPVSARHWFTMERLEVHSNGSVAYFNASQVTGPSIYSFHCEYVSSLSKKGSLLVARTQPSPWQMMLQDFQIQAFNVMGEQFSYASDCASFFSPGIWMGLLTSLFMLFIFTYGLHMILSLKTMDRFDDHKGPTISLTQIV
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 47 (IMD47) [MIM:300972]: A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive. {ECO:0000269|PubMed:27231034}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:Q9R1Q9, ECO:0000269|PubMed:22053050, ECO:0000269|PubMed:28296633, ECO:0000269|PubMed:33065002, ECO:0000303|PubMed:27231034, ECO:0000305|PubMed:33065002}.
uniprot
proteins
mass_dalton
52026
uniprot
proteins
mutagenesis
MUTAGEN 470; /note="V->VKKNN: Retained in the endoplasmic reticulum when transfected into yeast cells. Restores V-ATPase-dependent growth in Voa1 mutant yeast."; /evidence="ECO:0000269|PubMed:27231034
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:27231034}.
uniprot
proteins
protein_family
Vacuolar ATPase subunit S1 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22053050
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26212330
uniprot
proteins
pubmed
27231034
uniprot
proteins
pubmed
28296633
uniprot
proteins
pubmed
28728022
uniprot
proteins
pubmed
29127204
uniprot
proteins
pubmed
33065002
uniprot
proteins
pubmed
8034313
uniprot
proteins
pubmed
8733135
uniprot
proteins
sequence_length
470
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:27231034}; Single-pass type I membrane protein {ECO:0000305}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:27231034}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:O54715}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:O54715}; Single-pass type I membrane protein {ECO:0000305}. Note=Not detected in trans-Golgi network. {ECO:0000269|PubMed:27231034}.
uniprot
proteins
transmembrane_region
TRANSMEM 420..440; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins