Names & Taxonomy
- Uniprot ID:
- Q9NTI2
- Entry Name:
- AT8A2_HUMAN
- Status:
- reviewed
- Protein Names:
- Phospholipid-transporting ATPase IB (EC 3.6.3.1) (ATPase class I type 8A member 2) (ML-1) (P4-ATPase flippase complex alpha subunit ATP8A2)
- Gene Names:
- ATP8A2 ATPIB
- Gene Names Primary:
- ATP8A2
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 1148
- Sequence:
- MSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYEQIRRAANAFFLFIALLQQIPDVSPTGRYTTLVPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVNGQYLPADVVLLSSSEPQAMCYVETANLDGETNLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVALGPDQILLRGTQLRNTQWVFGIVVYTGHDTKLMQNSTKAPLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFGYNLLTFIILYNNLIPISLLVTLEVVKYTQALFINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTYGHFPELAREPSSDDFCRMPPPCSDSCDFDDPRLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAALVKGAKKLGFVFTARTPFSVIIEAMGQEQTFGILNVLEFSSDRKRMSVIVRTPSGRLRLYCKGADNVIFERLSKDSKYMEETLCHLEYFATEGLRTLCVAYADLSENEYEEWLKVYQEASTILKDRAQRLEECYEIIEKNLLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLVSQNMALILLKEDSLDATRAAITQHCTDLGNLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIELWFAFVNGFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGFNTKVFWGHCINALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYSTIWPTIPIAPDMRGQATMVLSSAHFWLGLFLVPTACLIEDVAWRAAKHTCKKTLLEEVQELETKSRVLGKAVLRDSNGKRLNERDRLIKRLGRKTPPTLFRGSSLQQGVPHGYAFSQEEHGAVSQEEVIRAYDTTKKKSRKK
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Membrane
Function
- 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.
- Catalytic Activity:
- ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).
- Enzyme Regulation:
- ENZYME REGULATION: ATPase activity is stimulated by phosphatidylserine (PS) and minimally by phosphatidylethanolamine (PE). ATPase activity is inhibited by N-ethylmaleimide (NEM) and vanadate. Flippase activity is inhibited by NEM and 1,2-dioleoyl-sn-glycero-3-phospho-L-serine (DOPS) (By similarity).
- Active Site:
- ACT_SITE 388 388 4-aspartylphosphate intermediate.
- Gene Ontology Go:
- endosome
Golgi apparatus
Golgi membrane
integral component of membrane
photoreceptor outer segment
plasma membrane
trans-Golgi network
ATP binding
magnesium ion binding
phospholipid-translocating ATPase activity
aging
axonogenesis
detection of light stimulus involved in visual perception
eating behavior
Golgi vesicle budding
inner ear morphogenesis
involuntary skeletal muscle contraction
negative regulation of cell proliferation
neurofilament cytoskeleton organization
neuromuscular process controlling posture
neuron development
positive regulation of multicellular organism growth
positive regulation of neuron projection development
positive regulation of phospholipid translocation
response to auditory stimulus
retina layer formation
skin development - Gene Ontology Biological Process:
- aging
axonogenesis
detection of light stimulus involved in visual perception
eating behavior
Golgi vesicle budding
inner ear morphogenesis
involuntary skeletal muscle contraction
negative regulation of cell proliferation
neurofilament cytoskeleton organization
neuromuscular process controlling posture
neuron development
positive regulation of multicellular organism growth
positive regulation of neuron projection development
positive regulation of phospholipid translocation
response to auditory stimulus
retina layer formation
skin development - Gene Ontology Molecular Function:
- ATP binding
magnesium ion binding
phospholipid-translocating ATPase activity - Gene Ontology Cellular Component:
- endosome
Golgi apparatus
Golgi membrane
integral component of membrane
photoreceptor outer segment
plasma membrane
trans-Golgi network - Keywords:
- ATP-binding
Alternative splicing
Cell membrane
Cell projection
Chromosomal rearrangement
Complete proteome
Disease mutation
Endosome
Golgi apparatus
Hydrolase
Lipid transport
Magnesium
Membrane
Mental retardation
Metal-binding
Nucleotide-binding
Phosphoprotein
Polymorphism
Reference proteome
Transmembrane
Transmembrane helix
Transport