ATP8A2
entrez
51761
canonical
uniprot
Q9NTI2
canonical
ensembl
ENSG00000132932
resolver
ensp
ENSP00000371070
resolver
ensp
ENSP00000506846
resolver
ensp
ENSP00000507489
resolver
ensp
ENSP00000508103
resolver
ensp
ENSP00000783634
resolver
enst
ENST00000682472
resolver
enst
ENST00000683960
resolver
genesymbol
ATP8A2
resolver
genesymbol_syn
ATPIB
resolver
hgnc
HGNC:13533
resolver
uniprot
A0A804HI09
resolver
uniprot
A0A804HKW9
resolver
uniprot
B7Z880
resolver
uniprot
Q6ZSP3
resolver
uniprot
Q6ZU25
resolver
uniprot
Q9H527
resolver
uniprot
Q9NPU6
resolver
uniprot
Q9NTL2
resolver
uniprot
Q9NYM3
resolver
uniprot_entry
A0A804HI09_HUMAN
resolver
uniprot_entry
A0A804HKW9_HUMAN
resolver
uniprot_entry
AT8A2_HUMAN
resolver
uniprot_entry
B7Z880_HUMAN
resolver
uniprot_entry
Q6ZU25_HUMAN
resolver
uniprot_sec
Q6ZSP3
resolver
uniprot_sec
Q9H527
resolver
uniprot_sec
Q9NPU6
resolver
uniprot_sec
Q9NTL2
resolver
uniprot_sec
Q9NYM3
resolver
amino_acid_sequence
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYEQIRRAANAFFLFIALLQQIPDVSPTGRYTTLVPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVNGQYLPADVVLLSSSEPQAMCYVETANLDGETNLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVALGPDQILLRGTQLRNTQWVFGIVVYTGHDTKLMQNSTKAPLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFGYNLLTFIILYNNLIPISLLVTLEVVKYTQALFINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTYGHFPELAREPSSDDFCRMPPPCSDSCDFDDPRLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAALVKGAKKLGFVFTARTPFSVIIEAMGQEQTFGILNVLEFSSDRKRMSVIVRTPSGRLRLYCKGADNVIFERLSKDSKYMEETLCHLEYFATEGLRTLCVAYADLSENEYEEWLKVYQEASTILKDRAQRLEECYEIIEKNLLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLVSQNMALILLKEDSLDATRAAITQHCTDLGNLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIELWFAFVNGFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGFNTKVFWGHCINALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYSTIWPTIPIAPDMRGQATMVLSSAHFWLGLFLVPTACLIEDVAWRAAKHTCKKTLLEEVQELETKSRVLGKAVLRDSNGKRLNERDRLIKRLGRKTPPTLFRGSSLQQGVPHGYAFSQEEHGAVSQEEVIRAYDTTKKKSRKK
uniprot
proteins
disease_involvement
DISEASE: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (CAMRQ4) [MIM:615268]: An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. {ECO:0000269|PubMed:22892528, ECO:0000269|PubMed:27679995, ECO:0000269|PubMed:29531481, ECO:0000269|PubMed:30012219, ECO:0000269|PubMed:31397519}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration disrupting ATP8A2 has been found in a patient with severe intellectual disability and major hypotonia. Translocation t(10;13)(p12.1;q12.13) (PubMed:20683487). {ECO:0000269|PubMed:20683487}.
uniprot
proteins
ec_number
7.6.2.1
uniprot
proteins
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 (By similarity). Able to translocate phosphatidylserine, but not phosphatidylcholine (PubMed:34403372). Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signaling molecules (By similarity). Reconstituted to liposomes, the ATP8A2:CDC50A flippase complex predominantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE) (By similarity). Phospholipid translocation is not associated with a countertransport of an inorganic ion or other charged substrate from the cytoplasmic side toward the exoplasm in connection with the phosphorylation from ATP (By similarity). ATP8A2:CDC50A may be involved in regulation of neurite outgrowth (By similarity). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes (By similarity). May be involved in vesicle trafficking in neuronal cells (By similarity). Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival (By similarity). {ECO:0000250|UniProtKB:C7EXK4, ECO:0000269|PubMed:34403372, ECO:0000305|PubMed:31397519}.
uniprot
proteins
mass_dalton
133599
uniprot
proteins
mutagenesis
MUTAGEN 107; /note="Q->A: No effect on flippase activity toward phosphatidylserine. Like the wild type, it is unable to translocate phosphatidylcholine."; /evidence="ECO:0000269|PubMed:34403372"; MUTAGEN 107; /note="Q->E: Reduced flippase activity toward phosphatidylserine. Like the wild type, it is unable to translocate phosphatidylcholine."; /evidence="ECO:0000269|PubMed:34403372"; MUTAGEN 429; /note="K->A: Abolishes ATPase activity."; /evidence="ECO:0000269|PubMed:31397519"; MUTAGEN 429; /note="K->L: Abolishes ATPase activity."; /evidence="ECO:0000269|PubMed:31397519"; MUTAGEN 429; /note="K->R: Abolishes ATPase activity."; /evidence="ECO:0000269|PubMed:31397519
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IV subfamily
uniprot
proteins
pubmed
10551800
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20683487
uniprot
proteins
pubmed
20947505
uniprot
proteins
pubmed
21454556
uniprot
proteins
pubmed
22892528
uniprot
proteins
pubmed
27679995
uniprot
proteins
pubmed
29531481
uniprot
proteins
pubmed
30012219
uniprot
proteins
pubmed
31397519
uniprot
proteins
pubmed
34403372
uniprot
proteins
sequence_length
1188
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305|PubMed:20947505}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:20947505}. Endosome membrane {ECO:0000250|UniProtKB:P98200}. Cell membrane {ECO:0000269|PubMed:20947505}. Photoreceptor outer segment membrane {ECO:0000250|UniProtKB:P98200}. Photoreceptor inner segment membrane {ECO:0000250|UniProtKB:C7EXK4}. Note=Localizes to the Golgi and endosomes in photoreceptor cells (By similarity). Localizes to disk membranes of rod photoreceptor outer segments (ROS) (By similarity). {ECO:0000250|UniProtKB:C7EXK4, ECO:0000250|UniProtKB:P98200}.
uniprot
proteins
transmembrane_region
TRANSMEM 95..115; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 120..140; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 317..337; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 365..385; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 888..908; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 911..931; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 960..980; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 998..1018; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1029..1049; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1064..1084; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins