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Entry version 160 (13 Feb 2019)
Sequence version 3 (12 Sep 2018)
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Protein

Phospholipid-transporting ATPase IB

Gene

ATP8A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

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).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei4284-aspartylphosphate intermediateBy similarity1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi821MagnesiumBy similarity1
Metal bindingi825MagnesiumBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • magnesium ion binding Source: InterPro
  • phospholipid-translocating ATPase activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTranslocase
Biological processLipid transport, Transport
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.6.3.1 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-936837 Ion transport by P-type ATPases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Phospholipid-transporting ATPase IB (EC:7.6.2.1)
Alternative name(s):
ATPase class I type 8A member 2
ML-1
P4-ATPase flippase complex alpha subunit ATP8A2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ATP8A2
Synonyms:ATPIB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000132932.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13533 ATP8A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605870 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NTI2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 94CytoplasmicCuratedAdd BLAST94
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei95 – 115HelicalSequence analysisAdd BLAST21
Topological domaini116 – 119ExtracellularCurated4
Transmembranei120 – 140HelicalSequence analysisAdd BLAST21
Topological domaini141 – 316CytoplasmicCuratedAdd BLAST176
Transmembranei317 – 337HelicalSequence analysisAdd BLAST21
Topological domaini338 – 364ExtracellularCuratedAdd BLAST27
Transmembranei365 – 385HelicalSequence analysisAdd BLAST21
Topological domaini386 – 887CytoplasmicCuratedAdd BLAST502
Transmembranei888 – 908HelicalSequence analysisAdd BLAST21
Topological domaini909 – 910ExtracellularCurated2
Transmembranei911 – 931HelicalSequence analysisAdd BLAST21
Topological domaini932 – 959CytoplasmicCuratedAdd BLAST28
Transmembranei960 – 980HelicalSequence analysisAdd BLAST21
Topological domaini981 – 997ExtracellularCuratedAdd BLAST17
Transmembranei998 – 1018HelicalSequence analysisAdd BLAST21
Topological domaini1019 – 1028CytoplasmicCurated10
Transmembranei1029 – 1049HelicalSequence analysisAdd BLAST21
Topological domaini1050 – 1063ExtracellularCuratedAdd BLAST14
Transmembranei1064 – 1084HelicalSequence analysisAdd BLAST21
Topological domaini1085 – 1188CytoplasmicCuratedAdd BLAST104

Keywords - Cellular componenti

Cell membrane, Cell projection, Endosome, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation.
See also OMIM:615268
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069928376I → M in CMARQ4. 1 PublicationCorresponds to variant dbSNP:rs546968533EnsemblClinVar.1
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).1 Publication

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
51761

MalaCards human disease database

More...
MalaCardsi
ATP8A2
MIMi615268 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000132932

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1766 Dysequilibrium syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25166

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATP8A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
30316390

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000463621 – 1188Phospholipid-transporting ATPase IBAdd BLAST1188

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei45PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NTI2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NTI2

PeptideAtlas

More...
PeptideAtlasi
Q9NTI2

PRoteomics IDEntifications database

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PRIDEi
Q9NTI2

ProteomicsDB human proteome resource

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ProteomicsDBi
82608
82609 [Q9NTI2-3]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q9NTI2-1 [Q9NTI2-1]

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Strongly expressed in the brain, cerebellum, retina and testis.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000132932 Expressed in 129 organ(s), highest expression level in pituitary gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NTI2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NTI2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040033

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit. Interacts with TMEM30A to form a flippase complex.2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119718, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NTI2, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000371070

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9NTI2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410ITKD Eukaryota
ENOG410XPYK LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157332

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000202528

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050601

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NTI2

KEGG Orthology (KO)

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KOi
K14802

Database of Orthologous Groups

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OrthoDBi
587717at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NTI2

TreeFam database of animal gene trees

More...
TreeFami
TF300654

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.1110.10, 1 hit
3.40.50.1000, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR023299 ATPase_P-typ_cyto_dom_N
IPR018303 ATPase_P-typ_P_site
IPR023298 ATPase_P-typ_TM_dom_sf
IPR008250 ATPase_P-typ_transduc_dom_A_sf
IPR036412 HAD-like_sf
IPR023214 HAD_sf
IPR006539 P-type_ATPase_IV
IPR032631 P-type_ATPase_N
IPR001757 P_typ_ATPase
IPR032630 P_typ_ATPase_c

The PANTHER Classification System

More...
PANTHERi
PTHR24092 PTHR24092, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16212 PhoLip_ATPase_C, 1 hit
PF16209 PhoLip_ATPase_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56784 SSF56784, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01652 ATPase-Plipid, 1 hit
TIGR01494 ATPase_P-type, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: Q9NTI2-4) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLNGAGLDKA LKMSLPRRSR IRSSVGPVRS SLGYKKAEDE MSRATSVGDQ
60 70 80 90 100
LEAPARTIYL NQPHLNKFRD NQISTAKYSV LTFLPRFLYE QIRRAANAFF
110 120 130 140 150
LFIALLQQIP DVSPTGRYTT LVPLIIILTI AGIKEIVEDF KRHKADNAVN
160 170 180 190 200
KKKTIVLRNG MWHTIMWKEV AVGDIVKVVN GQYLPADVVL LSSSEPQAMC
210 220 230 240 250
YVETANLDGE TNLKIRQGLS HTADMQTREV LMKLSGTIEC EGPNRHLYDF
260 270 280 290 300
TGNLNLDGKS LVALGPDQIL LRGTQLRNTQ WVFGIVVYTG HDTKLMQNST
310 320 330 340 350
KAPLKRSNVE KVTNVQILVL FGILLVMALV SSAGALYWNR SHGEKNWYIK
360 370 380 390 400
KMDTTSDNFG YNLLTFIILY NNLIPISLLV TLEVVKYTQA LFINWDTDMY
410 420 430 440 450
YIGNDTPAMA RTSNLNEELG QVKYLFSDKT GTLTCNIMNF KKCSIAGVTY
460 470 480 490 500
GHFPELAREP SSDDFCRMPP PCSDSCDFDD PRLLKNIEDR HPTAPCIQEF
510 520 530 540 550
LTLLAVCHTV VPEKDGDNII YQASSPDEAA LVKGAKKLGF VFTARTPFSV
560 570 580 590 600
IIEAMGQEQT FGILNVLEFS SDRKRMSVIV RTPSGRLRLY CKGADNVIFE
610 620 630 640 650
RLSKDSKYME ETLCHLEYFA TEGLRTLCVA YADLSENEYE EWLKVYQEAS
660 670 680 690 700
TILKDRAQRL EECYEIIEKN LLLLGATAIE DRLQAGVPET IATLLKAEIK
710 720 730 740 750
IWVLTGDKQE TAINIGYSCR LVSQNMALIL LKEDSLDATR AAITQHCTDL
760 770 780 790 800
GNLLGKENDV ALIIDGHTLK YALSFEVRRS FLDLALSCKA VICCRVSPLQ
810 820 830 840 850
KSEIVDVVKK RVKAITLAIG DGANDVGMIQ TAHVGVGISG NEGMQATNNS
860 870 880 890 900
DYAIAQFSYL EKLLLVHGAW SYNRVTKCIL YCFYKNVVLY IIELWFAFVN
910 920 930 940 950
GFSGQILFER WCIGLYNVIF TALPPFTLGI FERSCTQESM LRFPQLYKIT
960 970 980 990 1000
QNGEGFNTKV FWGHCINALV HSLILFWFPM KALEHDTVLT SGHATDYLFV
1010 1020 1030 1040 1050
GNIVYTYVVV TVCLKAGLET TAWTKFSHLA VWGSMLTWLV FFGIYSTIWP
1060 1070 1080 1090 1100
TIPIAPDMRG QATMVLSSAH FWLGLFLVPT ACLIEDVAWR AAKHTCKKTL
1110 1120 1130 1140 1150
LEEVQELETK SRVLGKAVLR DSNGKRLNER DRLIKRLGRK TPPTLFRGSS
1160 1170 1180
LQQGVPHGYA FSQEEHGAVS QEEVIRAYDT TKKKSRKK
Note: No experimental confirmation available.Curated
Length:1,188
Mass (Da):133,599
Last modified:September 12, 2018 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i93DF0640FB189CD9
GO
Isoform 1 (identifier: Q9NTI2-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: Missing.

Note: No experimental confirmation available. Gene prediction based on partial mRNA/EST data.Curated
Show »
Length:1,148
Mass (Da):129,242
Checksum:iE9F363B568C7EE82
GO
Isoform 2 (identifier: Q9NTI2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: Missing.
     555-568: MGQEQTFGILNVLE → VSNMRVHISDHLLL
     569-1188: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:528
Mass (Da):59,296
Checksum:i1CAD4BDC7B38F391
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VRS1F8VRS1_HUMAN
Phospholipid-transporting ATPase
ATP8A2
994Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W9B3F8W9B3_HUMAN
Phospholipid-transporting ATPase
ATP8A2
643Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Isoform 2 : The sequence AAF40215 differs from that shown. Reason: Frameshift at position 522.Curated
The sequence BAC04396 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti573R → K in BAC86905 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069928376I → M in CMARQ4. 1 PublicationCorresponds to variant dbSNP:rs546968533EnsemblClinVar.1
Natural variantiVAR_0555431069A → T. Corresponds to variant dbSNP:rs2296242Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0597181 – 40Missing in isoform 1 and isoform 2. Add BLAST40
Alternative sequenceiVSP_059719555 – 568MGQEQ…LNVLE → VSNMRVHISDHLLL in isoform 2. Add BLAST14
Alternative sequenceiVSP_059720569 – 1188Missing in isoform 2. Add BLAST620

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF236871 mRNA Translation: AAF40215.2 Frameshift.
AK094653 mRNA Translation: BAC04396.1 Different initiation.
AK127263 mRNA Translation: BAC86905.1
AL136438 Genomic DNA No translation available.
AL138815 Genomic DNA No translation available.
AL138958 Genomic DNA No translation available.
AL157366 Genomic DNA No translation available.
AL356316 Genomic DNA No translation available.
AL669971 Genomic DNA No translation available.
AL137256 mRNA Translation: CAB70658.1
AL390129 mRNA Translation: CAB99084.1
BX537836 mRNA Translation: CAD97848.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS41873.1 [Q9NTI2-4]

Protein sequence database of the Protein Information Resource

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PIRi
T46328
T51867

NCBI Reference Sequences

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RefSeqi
NP_001300670.1, NM_001313741.1
NP_057613.4, NM_016529.5 [Q9NTI2-4]
XP_005266476.1, XM_005266419.1 [Q9NTI2-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.444957
Hs.599723

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000381655; ENSP00000371070; ENSG00000132932 [Q9NTI2-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51761

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51761

UCSC genome browser

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UCSCi
uc001uqk.4 human [Q9NTI2-4]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF236871 mRNA Translation: AAF40215.2 Frameshift.
AK094653 mRNA Translation: BAC04396.1 Different initiation.
AK127263 mRNA Translation: BAC86905.1
AL136438 Genomic DNA No translation available.
AL138815 Genomic DNA No translation available.
AL138958 Genomic DNA No translation available.
AL157366 Genomic DNA No translation available.
AL356316 Genomic DNA No translation available.
AL669971 Genomic DNA No translation available.
AL137256 mRNA Translation: CAB70658.1
AL390129 mRNA Translation: CAB99084.1
BX537836 mRNA Translation: CAD97848.1
CCDSiCCDS41873.1 [Q9NTI2-4]
PIRiT46328
T51867
RefSeqiNP_001300670.1, NM_001313741.1
NP_057613.4, NM_016529.5 [Q9NTI2-4]
XP_005266476.1, XM_005266419.1 [Q9NTI2-1]
UniGeneiHs.444957
Hs.599723

3D structure databases

ProteinModelPortaliQ9NTI2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119718, 2 interactors
IntActiQ9NTI2, 1 interactor
STRINGi9606.ENSP00000371070

Polymorphism and mutation databases

BioMutaiATP8A2
DMDMi30316390

Proteomic databases

jPOSTiQ9NTI2
PaxDbiQ9NTI2
PeptideAtlasiQ9NTI2
PRIDEiQ9NTI2
ProteomicsDBi82608
82609 [Q9NTI2-3]
TopDownProteomicsiQ9NTI2-1 [Q9NTI2-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381655; ENSP00000371070; ENSG00000132932 [Q9NTI2-4]
GeneIDi51761
KEGGihsa:51761
UCSCiuc001uqk.4 human [Q9NTI2-4]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51761
DisGeNETi51761
EuPathDBiHostDB:ENSG00000132932.16

GeneCards: human genes, protein and diseases

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GeneCardsi
ATP8A2
HGNCiHGNC:13533 ATP8A2
HPAiHPA040033
MalaCardsiATP8A2
MIMi605870 gene
615268 phenotype
neXtProtiNX_Q9NTI2
OpenTargetsiENSG00000132932
Orphaneti1766 Dysequilibrium syndrome
PharmGKBiPA25166

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410ITKD Eukaryota
ENOG410XPYK LUCA
GeneTreeiENSGT00940000157332
HOGENOMiHOG000202528
HOVERGENiHBG050601
InParanoidiQ9NTI2
KOiK14802
OrthoDBi587717at2759
PhylomeDBiQ9NTI2
TreeFamiTF300654

Enzyme and pathway databases

BRENDAi3.6.3.1 2681
ReactomeiR-HSA-936837 Ion transport by P-type ATPases

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ATP8A2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
51761

Protein Ontology

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PROi
PR:Q9NTI2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000132932 Expressed in 129 organ(s), highest expression level in pituitary gland
ExpressionAtlasiQ9NTI2 baseline and differential
GenevisibleiQ9NTI2 HS

Family and domain databases

Gene3Di3.40.1110.10, 1 hit
3.40.50.1000, 1 hit
InterProiView protein in InterPro
IPR023299 ATPase_P-typ_cyto_dom_N
IPR018303 ATPase_P-typ_P_site
IPR023298 ATPase_P-typ_TM_dom_sf
IPR008250 ATPase_P-typ_transduc_dom_A_sf
IPR036412 HAD-like_sf
IPR023214 HAD_sf
IPR006539 P-type_ATPase_IV
IPR032631 P-type_ATPase_N
IPR001757 P_typ_ATPase
IPR032630 P_typ_ATPase_c
PANTHERiPTHR24092 PTHR24092, 1 hit
PfamiView protein in Pfam
PF16212 PhoLip_ATPase_C, 1 hit
PF16209 PhoLip_ATPase_N, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit
TIGRFAMsiTIGR01652 ATPase-Plipid, 1 hit
TIGR01494 ATPase_P-type, 2 hits
PROSITEiView protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAT8A2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NTI2
Secondary accession number(s): Q6ZSP3
, Q9H527, Q9NPU6, Q9NTL2, Q9NYM3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: September 12, 2018
Last modified: February 13, 2019
This is version 160 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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