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Q9NTI2

- AT8A2_HUMAN

UniProt

Q9NTI2 - AT8A2_HUMAN

Protein

Phospholipid-transporting ATPase IB

Gene

ATP8A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (30 Apr 2003)
      Previous versions | rss
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    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.

    Catalytic activityi

    ATP + H2O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).

    Enzyme 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)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei388 – 38814-aspartylphosphate intermediateBy similarity
    Metal bindingi781 – 7811MagnesiumBy similarity
    Metal bindingi785 – 7851MagnesiumBy similarity

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. cation-transporting ATPase activity Source: InterPro
    3. magnesium ion binding Source: InterPro
    4. phospholipid-translocating ATPase activity Source: UniProtKB-EC

    GO - Biological processi

    1. aging Source: Ensembl
    2. axonogenesis Source: Ensembl
    3. eating behavior Source: Ensembl
    4. involuntary skeletal muscle contraction Source: Ensembl
    5. negative regulation of cell proliferation Source: ProtInc
    6. neuromuscular process controlling posture Source: Ensembl
    7. positive regulation of multicellular organism growth Source: Ensembl
    8. skin development Source: Ensembl

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Lipid transport, Transport

    Keywords - Ligandi

    ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_25149. Ion transport by P-type ATPases.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phospholipid-transporting ATPase IB (EC:3.6.3.1)
    Alternative name(s):
    ATPase class I type 8A member 2
    ML-1
    P4-ATPase flippase complex alpha subunit ATP8A2
    Gene namesi
    Name:ATP8A2
    Synonyms:ATPIB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:13533. ATP8A2.

    Subcellular locationi

    Membrane Curated; Multi-pass membrane protein Curated. Golgi apparatus 1 Publication. Endosome By similarity. Cell projectionciliumphotoreceptor outer segment By similarity. Cell membrane 1 Publication
    Note: Localizes to the Golgi and endosomes in photoreceptor cells. Localizes to disk membranes of rod photoreceptor outer segments (ROS) By similarity.By similarity

    GO - Cellular componenti

    1. endosome Source: UniProtKB-SubCell
    2. Golgi apparatus Source: UniProtKB
    3. integral component of membrane Source: UniProtKB-KW
    4. photoreceptor outer segment Source: UniProtKB-SubCell
    5. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4) [MIM:615268]: A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti336 – 3361I → M in CMARQ4. 1 Publication
    VAR_069928
    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

    MIMi615268. phenotype.
    Orphaneti1766. Dysequilibrium syndrome.
    PharmGKBiPA25166.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11481148Phospholipid-transporting ATPase IBPRO_0000046362Add
    BLAST

    Proteomic databases

    PaxDbiQ9NTI2.
    PRIDEiQ9NTI2.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ9NTI2.
    BgeeiQ9NTI2.
    CleanExiHS_ATP8A2.
    GenevestigatoriQ9NTI2.

    Organism-specific databases

    HPAiHPA039926.

    Interactioni

    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

    BioGridi119718. 2 interactions.
    IntActiQ9NTI2. 1 interaction.
    STRINGi9606.ENSP00000371070.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NTI2.
    SMRiQ9NTI2. Positions 95-847.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4444CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini67 – 715Exoplasmic loopSequence Analysis
    Topological domaini95 – 276182CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini299 – 32325Exoplasmic loopSequence AnalysisAdd
    BLAST
    Topological domaini346 – 837492CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini859 – 87012Exoplasmic loopSequence AnalysisAdd
    BLAST
    Topological domaini891 – 92030CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini943 – 95614Exoplasmic loopSequence AnalysisAdd
    BLAST
    Topological domaini980 – 9856CytoplasmicSequence Analysis
    Topological domaini1007 – 102418Exoplasmic loopSequence AnalysisAdd
    BLAST
    Topological domaini1050 – 114899CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei45 – 6622HelicalSequence AnalysisAdd
    BLAST
    Transmembranei72 – 9423HelicalSequence AnalysisAdd
    BLAST
    Transmembranei277 – 29822HelicalSequence AnalysisAdd
    BLAST
    Transmembranei324 – 34522HelicalSequence AnalysisAdd
    BLAST
    Transmembranei838 – 85821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei871 – 89020HelicalSequence AnalysisAdd
    BLAST
    Transmembranei921 – 94222HelicalSequence AnalysisAdd
    BLAST
    Transmembranei957 – 97923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei986 – 100621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1025 – 104925HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0474.
    HOVERGENiHBG050601.
    InParanoidiQ9NTI2.
    KOiK14802.
    PhylomeDBiQ9NTI2.
    TreeFamiTF300654.

    Family and domain databases

    Gene3Di2.70.150.10. 2 hits.
    3.40.1110.10. 1 hit.
    3.40.50.1000. 2 hits.
    InterProiIPR023299. ATPase_P-typ_cyto_domN.
    IPR018303. ATPase_P-typ_P_site.
    IPR006539. ATPase_P-typ_Plipid-transp.
    IPR008250. ATPase_P-typ_transduc_dom_A.
    IPR001757. Cation_transp_P_typ_ATPase.
    IPR023214. HAD-like_dom.
    [Graphical view]
    PANTHERiPTHR24092. PTHR24092. 1 hit.
    PfamiPF00122. E1-E2_ATPase. 1 hit.
    [Graphical view]
    PRINTSiPR00119. CATATPASE.
    SUPFAMiSSF56784. SSF56784. 3 hits.
    SSF81660. SSF81660. 2 hits.
    TIGRFAMsiTIGR01652. ATPase-Plipid. 1 hit.
    TIGR01494. ATPase_P-type. 2 hits.
    PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NTI2-1) [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

    MSRATSVGDQ LEAPARTIYL NQPHLNKFRD NQISTAKYSV LTFLPRFLYE     50
    QIRRAANAFF LFIALLQQIP DVSPTGRYTT LVPLIIILTI AGIKEIVEDF 100
    KRHKADNAVN KKKTIVLRNG MWHTIMWKEV AVGDIVKVVN GQYLPADVVL 150
    LSSSEPQAMC YVETANLDGE TNLKIRQGLS HTADMQTREV LMKLSGTIEC 200
    EGPNRHLYDF TGNLNLDGKS LVALGPDQIL LRGTQLRNTQ WVFGIVVYTG 250
    HDTKLMQNST KAPLKRSNVE KVTNVQILVL FGILLVMALV SSAGALYWNR 300
    SHGEKNWYIK KMDTTSDNFG YNLLTFIILY NNLIPISLLV TLEVVKYTQA 350
    LFINWDTDMY YIGNDTPAMA RTSNLNEELG QVKYLFSDKT GTLTCNIMNF 400
    KKCSIAGVTY GHFPELAREP SSDDFCRMPP PCSDSCDFDD PRLLKNIEDR 450
    HPTAPCIQEF LTLLAVCHTV VPEKDGDNII YQASSPDEAA LVKGAKKLGF 500
    VFTARTPFSV IIEAMGQEQT FGILNVLEFS SDRKRMSVIV RTPSGRLRLY 550
    CKGADNVIFE RLSKDSKYME ETLCHLEYFA TEGLRTLCVA YADLSENEYE 600
    EWLKVYQEAS TILKDRAQRL EECYEIIEKN LLLLGATAIE DRLQAGVPET 650
    IATLLKAEIK IWVLTGDKQE TAINIGYSCR LVSQNMALIL LKEDSLDATR 700
    AAITQHCTDL GNLLGKENDV ALIIDGHTLK YALSFEVRRS FLDLALSCKA 750
    VICCRVSPLQ KSEIVDVVKK RVKAITLAIG DGANDVGMIQ TAHVGVGISG 800
    NEGMQATNNS DYAIAQFSYL EKLLLVHGAW SYNRVTKCIL YCFYKNVVLY 850
    IIELWFAFVN GFSGQILFER WCIGLYNVIF TALPPFTLGI FERSCTQESM 900
    LRFPQLYKIT QNGEGFNTKV FWGHCINALV HSLILFWFPM KALEHDTVLT 950
    SGHATDYLFV GNIVYTYVVV TVCLKAGLET TAWTKFSHLA VWGSMLTWLV 1000
    FFGIYSTIWP TIPIAPDMRG QATMVLSSAH FWLGLFLVPT ACLIEDVAWR 1050
    AAKHTCKKTL LEEVQELETK SRVLGKAVLR DSNGKRLNER DRLIKRLGRK 1100
    TPPTLFRGSS LQQGVPHGYA FSQEEHGAVS QEEVIRAYDT TKKKSRKK 1148

    Note: No experimental confirmation available.

    Length:1,148
    Mass (Da):129,242
    Last modified:April 30, 2003 - v2
    Checksum:iE9F363B568C7EE82
    GO
    Isoform 2 (identifier: Q9NTI2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         515-528: MGQEQTFGILNVLE → VSNMRVHISDHLLL
         529-1148: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:528
    Mass (Da):59,296
    Checksum:i1CAD4BDC7B38F391
    GO

    Sequence cautioni

    Isoform 2 : The sequence AAF40215.2 differs from that shown. Reason: Frameshift at position 522.
    The sequence BAC04396.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti336 – 3361I → M in CMARQ4. 1 Publication
    VAR_069928
    Natural varianti1029 – 10291A → T.
    Corresponds to variant rs2296242 [ dbSNP | Ensembl ].
    VAR_055543

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei515 – 52814MGQEQ…LNVLE → VSNMRVHISDHLLL in isoform 2. 1 PublicationVSP_037646Add
    BLAST
    Alternative sequencei529 – 1148620Missing in isoform 2. 1 PublicationVSP_037647Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF236871 mRNA. Translation: AAF40215.2. Frameshift.
    AL138815
    , AL136438, AL138958, AL157366, AL356316, AL669971 Genomic DNA. Translation: CAH70513.1.
    AL138958
    , AL136438, AL138815, AL157366, AL356316, AL669971 Genomic DNA. Translation: CAH71291.1.
    AL157366
    , AL136438, AL138815, AL138958, AL356316, AL669971 Genomic DNA. Translation: CAH74073.1.
    AL356316
    , AL136438, AL138815, AL138958, AL157366, AL669971 Genomic DNA. Translation: CAH70876.1.
    AL669971
    , AL136438, AL138815, AL138958, AL157366, AL356316 Genomic DNA. Translation: CAH73647.1.
    AL136438
    , AL138815, AL138958, AL157366, AL356316, AL669971 Genomic DNA. Translation: CAH70146.1.
    AL137256 mRNA. Translation: CAB70658.1.
    AL390129 mRNA. Translation: CAB99084.1.
    BX537836 mRNA. Translation: CAD97848.1.
    AK094653 mRNA. Translation: BAC04396.1. Different initiation.
    PIRiT46328.
    T51867.
    RefSeqiNP_057613.4. NM_016529.4.
    XP_005266476.1. XM_005266419.1. [Q9NTI2-1]
    XP_006719897.1. XM_006719834.1. [Q9NTI2-1]
    UniGeneiHs.444957.

    Genome annotation databases

    EnsembliENST00000381655; ENSP00000371070; ENSG00000132932.
    GeneIDi51761.
    KEGGihsa:51761.
    UCSCiuc001uql.1. human. [Q9NTI2-3]

    Polymorphism databases

    DMDMi30316390.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF236871 mRNA. Translation: AAF40215.2 . Frameshift.
    AL138815
    , AL136438 , AL138958 , AL157366 , AL356316 , AL669971 Genomic DNA. Translation: CAH70513.1 .
    AL138958
    , AL136438 , AL138815 , AL157366 , AL356316 , AL669971 Genomic DNA. Translation: CAH71291.1 .
    AL157366
    , AL136438 , AL138815 , AL138958 , AL356316 , AL669971 Genomic DNA. Translation: CAH74073.1 .
    AL356316
    , AL136438 , AL138815 , AL138958 , AL157366 , AL669971 Genomic DNA. Translation: CAH70876.1 .
    AL669971
    , AL136438 , AL138815 , AL138958 , AL157366 , AL356316 Genomic DNA. Translation: CAH73647.1 .
    AL136438
    , AL138815 , AL138958 , AL157366 , AL356316 , AL669971 Genomic DNA. Translation: CAH70146.1 .
    AL137256 mRNA. Translation: CAB70658.1 .
    AL390129 mRNA. Translation: CAB99084.1 .
    BX537836 mRNA. Translation: CAD97848.1 .
    AK094653 mRNA. Translation: BAC04396.1 . Different initiation.
    PIRi T46328.
    T51867.
    RefSeqi NP_057613.4. NM_016529.4.
    XP_005266476.1. XM_005266419.1. [Q9NTI2-1 ]
    XP_006719897.1. XM_006719834.1. [Q9NTI2-1 ]
    UniGenei Hs.444957.

    3D structure databases

    ProteinModelPortali Q9NTI2.
    SMRi Q9NTI2. Positions 95-847.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119718. 2 interactions.
    IntActi Q9NTI2. 1 interaction.
    STRINGi 9606.ENSP00000371070.

    Polymorphism databases

    DMDMi 30316390.

    Proteomic databases

    PaxDbi Q9NTI2.
    PRIDEi Q9NTI2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000381655 ; ENSP00000371070 ; ENSG00000132932 .
    GeneIDi 51761.
    KEGGi hsa:51761.
    UCSCi uc001uql.1. human. [Q9NTI2-3 ]

    Organism-specific databases

    CTDi 51761.
    GeneCardsi GC13P025946.
    HGNCi HGNC:13533. ATP8A2.
    HPAi HPA039926.
    MIMi 605870. gene.
    615268. phenotype.
    neXtProti NX_Q9NTI2.
    Orphaneti 1766. Dysequilibrium syndrome.
    PharmGKBi PA25166.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0474.
    HOVERGENi HBG050601.
    InParanoidi Q9NTI2.
    KOi K14802.
    PhylomeDBi Q9NTI2.
    TreeFami TF300654.

    Enzyme and pathway databases

    Reactomei REACT_25149. Ion transport by P-type ATPases.

    Miscellaneous databases

    ChiTaRSi ATP8A2. human.
    GenomeRNAii 51761.
    NextBioi 55870.
    PROi Q9NTI2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NTI2.
    Bgeei Q9NTI2.
    CleanExi HS_ATP8A2.
    Genevestigatori Q9NTI2.

    Family and domain databases

    Gene3Di 2.70.150.10. 2 hits.
    3.40.1110.10. 1 hit.
    3.40.50.1000. 2 hits.
    InterProi IPR023299. ATPase_P-typ_cyto_domN.
    IPR018303. ATPase_P-typ_P_site.
    IPR006539. ATPase_P-typ_Plipid-transp.
    IPR008250. ATPase_P-typ_transduc_dom_A.
    IPR001757. Cation_transp_P_typ_ATPase.
    IPR023214. HAD-like_dom.
    [Graphical view ]
    PANTHERi PTHR24092. PTHR24092. 1 hit.
    Pfami PF00122. E1-E2_ATPase. 1 hit.
    [Graphical view ]
    PRINTSi PR00119. CATATPASE.
    SUPFAMi SSF56784. SSF56784. 3 hits.
    SSF81660. SSF81660. 2 hits.
    TIGRFAMsi TIGR01652. ATPase-Plipid. 1 hit.
    TIGR01494. ATPase_P-type. 2 hits.
    PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Sun X.L., Milo G.E., Li D.
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Changes in levels of normal ML-1 gene transcripts associated with the conversion of human nontumorigenic to tumorigenic phenotypes."
      Sun X.L., Li D., Fang J., Noyes I., Casto B., Theil K., Shuler C., Milo G.E.
      Gene Expr. 8:129-139(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 155-1148 (ISOFORM 1).
      Tissue: Amygdala and Testis.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 319-1148 (ISOFORM 1).
      Tissue: Amygdala.
    6. "Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype."
      Cacciagli P., Haddad M.R., Mignon-Ravix C., El-Waly B., Moncla A., Missirian C., Chabrol B., Villard L.
      Eur. J. Hum. Genet. 18:1360-1363(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION.
    7. "Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases."
      van der Velden L.M., Wichers C.G., van Breevoort A.E., Coleman J.A., Molday R.S., Berger R., Klomp L.W., van de Graaf S.F.
      J. Biol. Chem. 285:40088-40096(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TMEM30A, SUBCELLULAR LOCATION.
    8. "Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2."
      Coleman J.A., Molday R.S.
      J. Biol. Chem. 286:17205-17216(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TMEM30A.
    9. "Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion."
      Onat O.E., Gulsuner S., Bilguvar K., Nazli Basak A., Topaloglu H., Tan M., Tan U., Gunel M., Ozcelik T.
      Eur. J. Hum. Genet. 21:281-285(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, VARIANT CMARQ4 MET-336.

    Entry informationi

    Entry nameiAT8A2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NTI2
    Secondary accession number(s): Q9H527
    , Q9NPU6, Q9NTL2, Q9NYM3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 18, 2001
    Last sequence update: April 30, 2003
    Last modified: October 1, 2014
    This is version 121 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3