ATP6V0A2 Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. Defects in ATP6V0A2 are the cause of cutis laxa autosomal recessive type 2A (ARCL2A). An autosomal recessive 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. Defects in ATP6V0A2 are a cause of wrinkly skin syndrome (WSS). WSS is 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. Belongs to the V-ATPase 116 kDa subunit family. Note: This description may include information from UniProtKB.
Protein type: Energy Metabolism - oxidative phosphorylation; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel; Transporter, iron
Chromosomal Location of Human Ortholog: 5|5 F
Cellular Component:  acrosomal vesicle; endosome; integral component of membrane; intracellular organelle; membrane; perinuclear region of cytoplasm; plasma membrane; proton-transporting V-type ATPase, V0 domain; vacuolar proton-transporting V-type ATPase complex; vacuolar proton-transporting V-type ATPase, V0 domain
Molecular Function:  ATPase binding; protein binding; proton transmembrane transporter activity; proton-transporting ATPase activity, rotational mechanism
Biological Process:  ATP hydrolysis coupled proton transport; cellular iron ion homeostasis; cellular response to increased oxygen levels; ion transport; vacuolar acidification
Reference #:  P15920 (UniProtKB)
Alt. Names/Synonyms: 8430408C20Rik; AI385560; ATP6a2; Atp6n1b; Atp6n1d; Atp6n2; Atp6v0a2; ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD); ATPase, H+ transporting, lysosomal V0 subunit a; ATPase, H+ transporting, lysosomal V0 subunit A2; AW489264; C76904; Immune suppressor factor J6B7; ISF; Lysosomal H(+)-transporting ATPase V0 subunit a2; MGC124341; MGC124342; ShIF; Stv1; T-cell expressing clone j6; Tj6; TJ6M; TJ6s; V-ATPase 116 kDa; V-ATPase 116 kDa isoform a2; V-ATPase a2; V-type proton ATPase 116 kDa subunit a; V-type proton ATPase 116 kDa subunit a isoform 2; vacuolar proton translocating ATPase 116 kDa subunit a; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2; VPP2
Gene Symbols: Atp6v0a2
Molecular weight: 98,145 Da
Basal Isoelectric point: 6.2  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene