InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATP6V0A2

Summary

InnateDB Protein

IDBP-63690.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATP6V0A2

Protein Name

ATPase, H+ transporting, lysosomal V0 subunit a2

Synonyms

A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7; RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS;

Species

Homo sapiens

Ensembl Protein

ENSP00000332247

InnateDB Gene

IDBG-63688 (ATP6V0A2)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:16415858, ECO:0000269PubMed:18157129}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal tubules, also detected in subapical vesicles. {ECO:0000250}.

Disease Associations

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:0000269PubMed:18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0015078	hydrogen ion transmembrane transporter activity

Biological Process

GO:0006879	cellular iron ion homeostasis
GO:0006955	immune response
GO:0008286	insulin receptor signaling pathway
GO:0015991	ATP hydrolysis coupled proton transport
GO:0033572	transferrin transport
GO:0051701	interaction with host
GO:0055085	transmembrane transport
GO:0090382	phagosome maturation

Cellular Component

GO:0000220	vacuolar proton-transporting V-type ATPase, V0 domain
GO:0001669	acrosomal vesicle
GO:0005737	cytoplasm
GO:0005765	lysosomal membrane
GO:0005886	plasma membrane
GO:0010008	endosome membrane
GO:0016021	integral component of membrane
GO:0030670	phagocytic vesicle membrane
GO:0033179	proton-transporting V-type ATPase, V0 domain