ATP6AP2
entrez
10159
canonical
uniprot
O75787
canonical
ensembl
ENSG00000182220
resolver
ensp
ENSP00000490083
resolver
genesymbol
ATP6AP2
resolver
genesymbol_syn
ATP6IP2
resolver
genesymbol_syn
CAPER
resolver
genesymbol_syn
ELDF10
resolver
hgnc
HGNC:18305
resolver
uniprot
B7Z9I3
resolver
uniprot
Q5QTQ7
resolver
uniprot
Q6T7F5
resolver
uniprot
Q8NBP3
resolver
uniprot
Q8NG15
resolver
uniprot
Q96FV6
resolver
uniprot
Q96LB5
resolver
uniprot
Q9H2P8
resolver
uniprot
Q9UG89
resolver
uniprot_entry
RENR_HUMAN
resolver
uniprot_sec
B7Z9I3
resolver
uniprot_sec
Q5QTQ7
resolver
uniprot_sec
Q6T7F5
resolver
uniprot_sec
Q8NBP3
resolver
uniprot_sec
Q8NG15
resolver
uniprot_sec
Q96FV6
resolver
uniprot_sec
Q96LB5
resolver
uniprot_sec
Q9H2P8
resolver
uniprot_sec
Q9UG89
resolver
amino_acid_sequence
MAVFVVLLALVAGVLGNEFSILKSPGSVVFRNGNWPIPGERIPDVAALSMGFSVKEDLSWPGLAVGNLFHRPRATVMVMVKGVNKLALPPGSVISYPLENAVPFSLDSVANSIHSLFSEETPVVLQLAPSEERVYMVGKANSVFEDLSVTLRQLRNRLFQENSVLSSLPLNSLSRNNEVDLLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAGLDEIGKRYGEDSEQFRDASKILVDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRKTRTILEAKQAKNPASPYNLAYKYNFEYSVVFNMVLWIMIALALAVIITSYNIWNMDPGYDSIIYRMTNQKIRMD
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Hedera type (MRXSH) [MIM:300423]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSH patients manifest mild to moderate intellectual disability associated with epilepsy, delays in motor milestones and speech acquisition in infancy. {ECO:0000269|PubMed:15746149, ECO:0000269|PubMed:30985297}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Parkinsonism with spasticity, X-linked (XPDS) [MIM:300911]: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. {ECO:0000269|PubMed:23595882}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital disorder of glycosylation 2R (CDG2R) [MIM:301045]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2R is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. {ECO:0000269|PubMed:29127204}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in ATP6AP2 may be involved in a glycosylation disorder with autophagic defects characterized by serum protein hypoglycosylation, immunodeficiency, liver disease, psychomotor impairment, and cutis laxa. {ECO:0000269|PubMed:25944712}.
uniprot
proteins
function
FUNCTION: Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system (PubMed:12045255, PubMed:29127204, PubMed:30374053, PubMed:32276428). May mediate renin-dependent cellular responses by activating ERK1 and ERK2 (PubMed:12045255). By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, may also play a role in the renin-angiotensin system (RAS) (PubMed:12045255). Through its function in V-type ATPase (v-ATPase) assembly and acidification of the lysosome it regulates protein degradation and may control different signaling pathways important for proper brain development, synapse morphology and synaptic transmission (By similarity). {ECO:0000250|UniProtKB:Q9CYN9, ECO:0000269|PubMed:12045255, ECO:0000269|PubMed:29127204, ECO:0000269|PubMed:30374053, ECO:0000269|PubMed:32276428}.
uniprot
proteins
mass_dalton
39008
uniprot
proteins
mutagenesis
MUTAGEN 346; /note="K->Q: Increases cleavage and stability enhancing localization to the Golgi; when associated with Q-348."; /evidence="ECO:0000269|PubMed:29127204"; MUTAGEN 348; /note="R->Q: Increases cleavage and stability and enhancing localization to the Golgi; when associated with Q-346."; /evidence="ECO:0000269|PubMed:29127204
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000269|PubMed:12045255}.; PTM: Proteolytically cleaved by a furin-like convertase in the trans-Golgi network to generate N- and C-terminal fragments. {ECO:0000269|PubMed:29127204}.
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
12045255
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15746149
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21420935
uniprot
proteins
pubmed
23595882
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29127204
uniprot
proteins
pubmed
30374053
uniprot
proteins
pubmed
30985297
uniprot
proteins
pubmed
32276428
uniprot
proteins
pubmed
33065002
uniprot
proteins
pubmed
9556572
uniprot
proteins
sequence_length
350
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:29127204}; Single-pass type I membrane protein {ECO:0000305}. Lysosome membrane {ECO:0000269|PubMed:29127204}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000250|UniProtKB:Q9CYN9}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, dendritic spine membrane {ECO:0000250|UniProtKB:Q9CYN9}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:Q9CYN9}. Endosome membrane {ECO:0000250|UniProtKB:Q9CYN9}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:Q6AXS4}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q6AXS4}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 303..323; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins