InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATP6AP2

Summary

InnateDB Protein

IDBP-56838.6

Last Modified

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

Gene Symbol

ATP6AP2

Protein Name

ATPase, H+ transporting, lysosomal accessory protein 2

Synonyms

APT6M8-9; ATP6IP2; ATP6M8-9; ELDF10; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR; XMRE; XPDS;

Species

Homo sapiens

Ensembl Protein

ENSP00000367697

InnateDB Gene

IDBG-56836 (ATP6AP2)

Protein Structure

UniProt Annotation

Function

Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS). {ECO:0000269PubMed:12045255}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Mental retardation, X-linked, with epilepsy (MRXE) [MIM:300423]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy. {ECO:0000269PubMed:15746149}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:23595882}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. {ECO:0000269PubMed:12045255, ECO:0000269PubMed:15746149}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004190	aspartic-type endopeptidase activity
GO:0004872	receptor activity
GO:0005515	protein binding
GO:0019899	enzyme binding

Biological Process

GO:0002003	angiotensin maturation
GO:0006508	proteolysis
GO:0008219	cell death
GO:0021903	rostrocaudal neural tube patterning
GO:0030177	positive regulation of Wnt signaling pathway
GO:0032914	positive regulation of transforming growth factor beta1 production
GO:0043408	regulation of MAPK cascade
GO:0044267	cellular protein metabolic process
GO:0048069	eye pigmentation
GO:0060323	head morphogenesis

Cellular Component

GO:0005886	plasma membrane
GO:0009897	external side of plasma membrane
GO:0016021	integral component of membrane
GO:0043005	neuron projection
GO:0044297	cell body
GO:0070062	extracellular vesicular exosome