InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATP8A2

Summary

InnateDB Protein

IDBP-17059.6

Last Modified

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

Gene Symbol

ATP8A2

Protein Name

ATPase, aminophospholipid transporter, class I, type 8A, member 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000371070

InnateDB Gene

IDBG-17053 (ATP8A2)

Protein Structure

UniProt Annotation

Function

Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Involved in regulation of neurite outgrowth; acting in synergy with TMEM30A. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus {ECO:0000269PubMed:20947505}. Endosome {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Cell membrane {ECO:0000269PubMed:20947505}. Note=Localizes to the Golgi and endosomes in photoreceptor cells. Localizes to disk membranes of rod photoreceptor outer segments (ROS) (By similarity). {ECO:0000250}.

Disease Associations

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4) [MIM:615268]: A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. {ECO:0000269PubMed:22892528}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration disrupting ATP8A2 has been found in a patient with severe mental retardation and major hypotonia. Translocation t(10;13)(p12.1;q12.13) (PubMed:20683487). {ECO:0000269PubMed:20683487}.

Tissue Specificity

Strongly expressed in the brain, cerebellum, retina and testis. {ECO:0000269PubMed:20683487, ECO:0000269PubMed:22892528}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0000287	magnesium ion binding
GO:0004012	phospholipid-translocating ATPase activity
GO:0005524	ATP binding
GO:0019829	cation-transporting ATPase activity
GO:0046872	metal ion binding

Biological Process

GO:0003011	involuntary skeletal muscle contraction
GO:0006812	cation transport
GO:0007409	axonogenesis
GO:0007568	aging
GO:0008152	metabolic process
GO:0008285	negative regulation of cell proliferation
GO:0010842	retina layer formation
GO:0010976	positive regulation of neuron projection development
GO:0010996	response to auditory stimulus
GO:0015914	phospholipid transport
GO:0031175	neuron projection development
GO:0040018	positive regulation of multicellular organism growth
GO:0042472	inner ear morphogenesis
GO:0042755	eating behavior
GO:0043588	skin development
GO:0045332	phospholipid translocation
GO:0048666	neuron development
GO:0050884	neuromuscular process controlling posture
GO:0050908	detection of light stimulus involved in visual perception
GO:0060052	neurofilament cytoskeleton organization
GO:0061092	positive regulation of phospholipid translocation

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005768	endosome
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001757 Cation-transporting P-type ATPase
IPR006539 Cation-transporting P-type ATPase, subfamily IV
IPR008250 P-type ATPase, A domain
IPR023214 HAD-like domain
IPR023299 P-type ATPase, cytoplasmic domain N

PFAM

PF00122
PF00702
PF08282
PF13419

PRINTS

PR00119
PR00120

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NTI2