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vacuolar proton translocating ATPase 116 kD subunit a, isoform 2; V-ATPase 116 kD isoform a2 (TJ6, ATP6V0A2)
Function:
- component of the proton channel of V-ATPases
- component of the endosomal pH-sensing machinery
- role in maintaining the Golgi functions, including glycosylation maturation, by controlling the Golgi pH (putative)
- directly interacts with PSCD2 through its N-terminal cytosolic tail (intra-endosomal acidification-dependent); disruption of this interaction results in the inhibition of endocytosis
- phosphorylated upon DNA damage, probably by ATM or ATR
Structure: belongs to the V-ATPase 116 kD subunit family
Compartment:
- cell membrane
- endosome membrane
- in kidney proximal tubules, also detected in subapical vesicles (putative)
Pathology:
- defects in ATP6V0A2 are the cause of
a) cutis laxa type 2
b) wrinkly skin syndrome
Properties
GENERAL: vacuolar ATP synthase 116 kD subunit a
RELATED: osteopetrosis
SIZE: MW = 98 kD
entity length = 856 aa
COMPARTMENT: cellular membrane
FORM: vacuolar ATP synthase 116 kD subunit a, isoform 2
MOTIF: cytoplasmic domain {1-405}
MOTIF: Ser phosphorylation site {S177}
cytoplasmic domain {N-TERMINAL}
exoplasmic loop
LOOP#: 1
exoplasmic loop
LOOP#: 2
exoplasmic loop
LOOP#: 3
exoplasmic loop
LOOP#: 4
glycosylation site
transmembrane domain {406-426}
exoplasmic loop {427-451}
exoplasmic loop {576-591}
exoplasmic loop {644-650}
exoplasmic loop {775-786}
active site
MOTIF: adenine nucleotide-binding site
transmembrane domain {452-472}
cytoplasmic loop {473-554}
transmembrane domain {555-575}
transmembrane domain {592-612}
cytoplasmic loop {613-622}
transmembrane domain {623-643}
cytoplasmic loop {672-753}
MOTIF: Ser phosphorylation site {S695}
Ser phosphorylation site {S700}
Ser phosphorylation site {S704}
cytoplasmic domain {C-TERMINAL}
transmembrane domain {651-671}
transmembrane domain {754-774}
transmembrane domain {787-807}
cytoplasmic domain {808-856}
COMPONENT-OF: vacuolar ATP synthase
Database Correlations
OMIM correlations
MORBIDMAP 611716
UniProt Q9Y487
Pfam PF01496
Entrez Gene 23545
Kegg hsa:2354
References
UniProt :accession Q9Y487