ATP6V0A2
entrez
23545
canonical
uniprot
Q9Y487
canonical
ensembl
ENSG00000185344
resolver
ensp
ENSP00000332247
resolver
ensp
ENSP00000528705
resolver
enst
ENST00000330342
resolver
genesymbol
ATP6V0A2
resolver
hgnc
HGNC:18481
resolver
uniprot
A8K026
resolver
uniprot
Q6NUM0
resolver
uniprot_entry
VPP2_HUMAN
resolver
uniprot_sec
A8K026
resolver
uniprot_sec
Q6NUM0
resolver
amino_acid_sequence
MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPPLKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLINQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRIQDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSRESGATIPSFMNIIPTKETPPTRIRTNKFTEGFQNIVDAYGVGSYREVNPALFTIITFPFLFAVMFGDFGHGFVMFLFALLLVLNENHPRLNQSQEIMRMFFNGRYILLLMGLFSVYTGLIYNDCFSKSVNLFGSGWNVSAMYSSSHPPAEHKKMVLWNDSVVRHNSILQLDPSIPGVFRGPYPLGIDPIWNLATNRLTFLNSFKMKMSVILGIIHMTFGVILGIFNHLHFRKKFNIYLVSIPELLFMLCIFGYLIFMIFYKWLVFSAETSRVAPSILIEFINMFLFPASKTSGLYTGQEYVQRVLLVVTALSVPVLFLGKPLFLLWLHNGRSCFGVNRSGYTLIRKDSEEEVSLLGSQDIEEGNHQVEDGCREMACEEFNFGEILMTQVIHSIEYCLGCISNTASYLRLWALSLAHAQLSDVLWAMLMRVGLRVDTTYGVLLLLPVIALFAVLTIFILLIMEGLSAFLHAIRLHWVEFQNKFYVGAGTKFVPFSFSLLSSKFNNDDSVA
uniprot
proteins
disease_involvement
DISEASE: Cutis laxa, autosomal recessive, 2A (ARCL2A) [MIM:219200]: A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. {ECO:0000269|PubMed:18157129}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Wrinkly skin syndrome (WSS) [MIM:278250]: A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. {ECO:0000269|PubMed:18157129}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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 (By similarity). 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 is responsible for acidifying the extracellular environment (By similarity). Essential component of the endosomal pH-sensing machinery (PubMed:16415858). May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH (PubMed:18157129). 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). {ECO:0000250|UniProtKB:Q29466, ECO:0000250|UniProtKB:Q93050, ECO:0000269|PubMed:16415858, ECO:0000269|PubMed:18157129, ECO:0000269|PubMed:28296633}.
uniprot
proteins
mass_dalton
98082
uniprot
proteins
protein_family
V-ATPase 116 kDa subunit family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16415858
uniprot
proteins
pubmed
17295899
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18157129
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28024296
uniprot
proteins
pubmed
28296633
uniprot
proteins
sequence_length
856
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal tubules, also detected in subapical vesicles. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 394..412; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 415..431; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 446..475; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 550..569; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 588..608; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 652..671; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 740..764; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 786..824; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins